#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	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_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	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_Start_position_hg18	i_TranscriptID	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
KCND2	3751	hgsc.bcm.edu	37	7	119915719	119915719	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr7:119915719G>A	ENST00000331113.4	+	1	1998	c.1033G>A	c.(1033-1035)Gca>Aca	p.A345T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	345					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.A345T(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	TATGTTCTACGCAGAGAAGGG	0.502																																					p.A345T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1033A	7						.						151.0	120.0	131.0					7																	119915719		2203	4300	6503	119702955	SO:0001583	missense	3751	exon1			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1033G>A	7.37:g.119915719G>A	ENSP00000333496:p.Ala345Thr	Somatic		Capture	SOLID	Phase_I	119702955	NM_012281	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	G	31	5.090232	0.94149	.	.	ENSG00000184408	ENST00000331113	D	0.98419	-4.92	5.4	5.4	0.78164	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98632	0.9542	M	0.78344	2.41	0.80722	D	1	D	0.56968	0.978	P	0.58077	0.832	D	0.98813	1.0744	9	.	.	.	.	19.5371	0.95257	0.0:0.0:1.0:0.0	.	345	Q9NZV8	KCND2_HUMAN	T	345	ENSP00000333496:A345T	.	A	+	1	0	KCND2	119702955	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.706000	0.92434	0.557000	0.71058	GCA		0.502	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281	
GIMAP5	55340	hgsc.bcm.edu	37	7	150439676	150439676	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr7:150439676T>C	ENST00000358647.3	+	3	816	c.449T>C	c.(448-450)tTc>tCc	p.F150S	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	150	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)	p.F150S(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTCATCCTCTTCACCCACAAA	0.562																																					p.F354S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1061C	7						.						96.0	91.0	92.0					7																	150439676		2203	4300	6503	150070609	SO:0001583	missense	55340	exon6			AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.449T>C	7.37:g.150439676T>C	ENSP00000351473:p.Phe150Ser	Somatic		Capture	SOLID	Phase_I	150070609	NM_001199577	D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.930600	0.73327	.	.	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.11169	2.8	4.15	4.15	0.48705	AIG1 (1);	0.000000	0.85682	D	0.000000	T	0.43964	0.1271	H	0.96633	3.855	0.41567	D	0.988666	D	0.89917	1.0	D	0.97110	1.0	T	0.57642	-0.7776	10	0.87932	D	0	.	9.4776	0.38880	0.0:0.0:0.0:1.0	.	150	Q96F15	GIMA5_HUMAN	S	150;186	ENSP00000351473:F150S	ENSP00000351473:F150S	F	+	2	0	GIMAP5	150070609	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	4.173000	0.58249	1.740000	0.51718	0.533000	0.62120	TTC		0.562	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384	
ZNF335	63925	hgsc.bcm.edu	37	20	44590783	44590783	+	Silent	SNP	C	C	T			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr20:44590783C>T	ENST00000322927.2	-	10	1672	c.1572G>A	c.(1570-1572)aaG>aaA	p.K524K	ZNF335_ENST00000426788.1_Silent_p.K369K	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	524					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)	p.K524K(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				ACTCGTCACACTTGTAGGGCT	0.632																																					p.K524K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1572A	20						.						196.0	148.0	164.0					20																	44590783		2203	4300	6503	44024190	SO:0001819	synonymous_variant	63925	exon10			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.1572G>A	20.37:g.44590783C>T		Somatic		Capture	SOLID	Phase_I	44024190	NM_022095	B4DLG7|Q548D0|Q9H684	Silent	SNP	ENST00000322927.2	37	CCDS13389.1																																																																																				0.632	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079553.1	NM_022095	
PREX1	57580	hgsc.bcm.edu	37	20	47271867	47271867	+	Missense_Mutation	SNP	G	G	A	rs377520743		TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr20:47271867G>A	ENST00000371941.3	-	19	2192	c.2170C>T	c.(2170-2172)Cgt>Tgt	p.R724C	PREX1_ENST00000396220.1_Missense_Mutation_p.R724C	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	724					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R724C(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCAGCTCCACGAATCTGGAAG	0.562																																					p.R724C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C2170T	20						.	G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	134.0	94.0	107.0		2170	4.8	0.9	20		107	0,8600		0,0,4300	no	missense	PREX1	NM_020820.3	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	724/1660	47271867	1,13005	2203	4300	6503	46705274	SO:0001583	missense	57580	exon19			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.2170C>T	20.37:g.47271867G>A	ENSP00000361009:p.Arg724Cys	Somatic		Capture	SOLID	Phase_I	46705274	NM_020820	E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	G	12.56	1.975735	0.34848	2.27E-4	0.0	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.41758	0.99;0.99	4.85	4.85	0.62838	PDZ/DHR/GLGF (2);	0.124035	0.33834	U	0.004515	T	0.45155	0.1328	M	0.78049	2.395	0.46011	D	0.998818	B;B	0.26547	0.152;0.058	B;B	0.20184	0.028;0.014	T	0.51309	-0.8722	10	0.87932	D	0	.	13.0203	0.58781	0.0:0.0:0.8389:0.1611	.	724;21	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	C	724	ENSP00000361009:R724C;ENSP00000379522:R724C	ENSP00000361009:R724C	R	-	1	0	PREX1	46705274	1.000000	0.71417	0.909000	0.35828	0.238000	0.25445	5.016000	0.64041	2.228000	0.72767	0.655000	0.94253	CGT		0.562	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
ZFP64	55734	hgsc.bcm.edu	37	20	50705005	50705005	+	Missense_Mutation	SNP	G	G	A	rs370373546		TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr20:50705005G>A	ENST00000361387.2	-	8	1214	c.1154C>T	c.(1153-1155)cCg>cTg	p.P385L	ZFP64_ENST00000371518.2_Missense_Mutation_p.P385L|ZFP64_ENST00000477786.1_5'Flank|ZFP64_ENST00000371523.4_Missense_Mutation_p.P166L	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	342					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.P385L(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GCATTTGTACGGCCGCTCATC	0.592																																					p.P385L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1154T	20						.	G	LEU/PRO	1,4405	2.1+/-5.4	0,1,2202	102.0	99.0	100.0		1154	4.6	1.0	20		100	0,8600		0,0,4300	no	missense	ZFP64	NM_199427.2	98	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		385/646	50705005	1,13005	2203	4300	6503	50138412	SO:0001583	missense	55734	exon8			AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000361387.2:c.1154C>T	20.37:g.50705005G>A	ENSP00000355179:p.Pro385Leu	Somatic		Capture	SOLID	Phase_I	50138412	NM_199427	Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000361387.2	37	CCDS13439.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971289	0.92919	2.27E-4	0.0	ENSG00000020256	ENST00000371518;ENST00000371523;ENST00000361387;ENST00000395989	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	4.63	4.63	0.57726	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42177	0.1191	M	0.66297	2.02	0.80722	D	1	D;D	0.89917	1.0;0.994	D;P	0.87578	0.998;0.689	T	0.35425	-0.9789	9	0.72032	D	0.01	.	18.037	0.89307	0.0:0.0:1.0:0.0	.	385;166	Q9NTW7;Q9NTW7-2	ZF64B_HUMAN;.	L	385;166;385;188	ENSP00000360573:P385L;ENSP00000360578:P166L;ENSP00000355179:P385L;ENSP00000379312:P188L	ENSP00000355179:P385L	P	-	2	0	ZFP64	50138412	1.000000	0.71417	0.959000	0.39883	0.967000	0.64934	9.463000	0.97652	2.555000	0.86185	0.655000	0.94253	CCG		0.592	ZFP64-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079743.2	NM_018197	
NID2	22795	hgsc.bcm.edu	37	14	52520821	52520821	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr14:52520821G>A	ENST00000216286.5	-	4	985	c.986C>T	c.(985-987)cCg>cTg	p.P329L	NID2_ENST00000541773.1_Missense_Mutation_p.P276L	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	329					basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)	p.P329L(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TGGTTCACCCGGAAGGTATTC	0.478																																					p.P329L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C986T	14						.						91.0	85.0	87.0					14																	52520821		2203	4300	6503	51590571	SO:0001583	missense	22795	exon4			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.986C>T	14.37:g.52520821G>A	ENSP00000216286:p.Pro329Leu	Somatic		Capture	SOLID	Phase_I	51590571	NM_007361	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	CCDS9706.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.101154	0.56183	.	.	ENSG00000087303	ENST00000216286;ENST00000541773;ENST00000395707	D;D	0.83837	-1.77;-1.67	5.82	4.93	0.64822	.	0.528157	0.20712	N	0.087070	D	0.84211	0.5422	L	0.34521	1.04	0.22017	N	0.99942	D;D;P	0.76494	0.999;0.996;0.895	P;P;B	0.59115	0.852;0.595;0.191	T	0.77635	-0.2514	10	0.66056	D	0.02	.	13.5915	0.61964	0.0754:0.0:0.9246:0.0	.	276;331;329	Q14112-2;Q5CZI2;Q14112	.;.;NID2_HUMAN	L	329;276;331	ENSP00000216286:P329L;ENSP00000443730:P276L	ENSP00000216286:P329L	P	-	2	0	NID2	51590571	0.801000	0.28930	0.057000	0.19452	0.010000	0.07245	2.788000	0.47806	1.452000	0.47756	0.655000	0.94253	CCG		0.478	NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1		
GOLGA5	9950	hgsc.bcm.edu	37	14	93299668	93299668	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr14:93299668A>C	ENST00000163416.2	+	10	2177	c.1921A>C	c.(1921-1923)Atg>Ctg	p.M641L	GOLGA5_ENST00000355976.2_Missense_Mutation_p.M641L	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	641					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)	p.M641L(2)		large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TTCGATTAATATGTCTGGAAT	0.383			T	RET	papillary thyroid																																p.M641L			Dom	yes		14	14q	9950	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""		E	.	.	2	Substitution - Missense(2)	large_intestine(2)	c.A1921C	14						.						99.0	99.0	99.0					14																	93299668		2203	4300	6503	92369421	SO:0001583	missense	9950	exon10			AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.1921A>C	14.37:g.93299668A>C	ENSP00000163416:p.Met641Leu	Somatic		Capture	SOLID	Phase_I	92369421	NM_005113	C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	ENST00000163416.2	37	CCDS9905.1	.	.	.	.	.	.	.	.	.	.	A	16.72	3.201083	0.58234	.	.	ENSG00000066455	ENST00000163416;ENST00000355976;ENST00000439315	T;T	0.43688	0.94;0.94	5.18	5.18	0.71444	.	0.000000	0.56097	D	0.000021	T	0.39809	0.1092	L	0.55834	1.745	0.80722	D	1	B	0.31769	0.339	B	0.36378	0.223	T	0.18713	-1.0328	10	0.09084	T	0.74	-18.0296	15.0438	0.71811	1.0:0.0:0.0:0.0	.	641	Q8TBA6	GOGA5_HUMAN	L	641;641;550	ENSP00000163416:M641L;ENSP00000348252:M641L	ENSP00000163416:M641L	M	+	1	0	GOLGA5	92369421	1.000000	0.71417	0.293000	0.24932	0.271000	0.26615	8.384000	0.90160	1.958000	0.56883	0.477000	0.44152	ATG		0.383	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412365.1		
BRF1	2972	hgsc.bcm.edu	37	14	105686435	105686435	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr14:105686435T>C	ENST00000546474.1	-	12	16307	c.1348A>G	c.(1348-1350)Agt>Ggt	p.S450G	BRF1_ENST00000392557.4_Missense_Mutation_p.S246G|BRF1_ENST00000446501.2_Missense_Mutation_p.S212G|BRF1_ENST00000440513.3_Missense_Mutation_p.S335G|BRF1_ENST00000547530.1_5'UTR|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000549044.1_5'UTR|BRF1_ENST00000379937.2_Missense_Mutation_p.S423G|BRF1_ENST00000327359.3_Missense_Mutation_p.S335G	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	450					gene expression (GO:0010467)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|tRNA transcription (GO:0009304)	nucleoplasm (GO:0005654)|transcription factor TFIIIB complex (GO:0000126)	zinc ion binding (GO:0008270)	p.S450G(1)		NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		TCAATGCCACTGAGGTCCAGC	0.617																																					p.S246G												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A736G	14						.						168.0	114.0	133.0					14																	105686435		2203	4300	6503	104757480	SO:0001583	missense	2972	exon8			U28838	CCDS10001.1, CCDS42001.1, CCDS55949.1, CCDS55950.1, CCDS55951.1, CCDS55952.1, CCDS55953.1	14q32.33	2014-04-02	2013-05-29	2001-12-07	ENSG00000185024	ENSG00000185024		"""General transcription factors"""	11551	protein-coding gene	gene with protein product		604902	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 2"", ""BRF1 homolog, subunit of RNA polymerase III transcription initiation factor IIIB (S. cerevisiae)"""	TAF3B2, TAF3C, GTF3B		7624363, 8943358	Standard	NM_145685		Approved	TFIIIB90, BRF, hBRF	uc001yqp.2	Q92994	OTTHUMG00000029884	ENST00000546474.1:c.1348A>G	14.37:g.105686435T>C	ENSP00000448323:p.Ser450Gly	Somatic		Capture	SOLID	Phase_I	104757480	NM_145685	B3KU36|B4DIG5|B7Z2N3|F5H5Z7|F8WA46|Q13223|Q3SYD9|Q5PR24|Q6IQ02|Q96KX3|Q9HCW6|Q9HCW7|Q9HCW8	Missense_Mutation	SNP	ENST00000546474.1	37	CCDS10001.1	.	.	.	.	.	.	.	.	.	.	T	12.63	1.995499	0.35226	.	.	ENSG00000185024	ENST00000392557;ENST00000379937;ENST00000546474;ENST00000446501;ENST00000327359;ENST00000440513;ENST00000547562	.	.	.	5.6	5.6	0.85130	.	0.293627	0.43747	D	0.000534	T	0.59932	0.2230	L	0.56769	1.78	0.80722	D	1	B;B;B	0.32693	0.38;0.202;0.128	B;B;B	0.35550	0.164;0.205;0.065	T	0.58707	-0.7589	9	0.32370	T	0.25	.	13.7235	0.62743	0.0:0.0:0.0:1.0	.	335;423;450	F5H5Z7;Q92994-5;Q92994	.;.;TF3B_HUMAN	G	246;423;450;212;335;335;170	.	ENSP00000329029:S335G	S	-	1	0	BRF1	104757480	0.914000	0.31030	1.000000	0.80357	0.476000	0.33039	1.992000	0.40737	2.132000	0.65825	0.459000	0.35465	AGT		0.617	BRF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074548.4	NM_001519	
PTPRS	5802	hgsc.bcm.edu	37	19	5207955	5207955	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr19:5207955C>T	ENST00000587303.1	-	36	5855	c.5756G>A	c.(5755-5757)cGg>cAg	p.R1919Q	PTPRS_ENST00000592099.1_Missense_Mutation_p.R1472Q|PTPRS_ENST00000353284.2_Missense_Mutation_p.R1472Q|PTPRS_ENST00000262963.6_Missense_Mutation_p.R1899Q|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Missense_Mutation_p.R1919Q|PTPRS_ENST00000588012.1_Missense_Mutation_p.R1881Q|PTPRS_ENST00000348075.2_Missense_Mutation_p.R1881Q|PTPRS_ENST00000372412.4_Missense_Mutation_p.R1920Q			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1919	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|corpus callosum development (GO:0022038)|extracellular matrix organization (GO:0030198)|hippocampus development (GO:0021766)|peptidyl-tyrosine dephosphorylation (GO:0035335)|spinal cord development (GO:0021510)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.R1919Q(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)	Alendronate(DB00630)|Etidronic acid(DB01077)	CATGGCCGGCCGCTGGGTTCG	0.607																																					p.R1919Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5756A	19						.						128.0	108.0	115.0					19																	5207955		2203	4300	6503	5158955	SO:0001583	missense	5802	exon37			U35234	CCDS12139.1, CCDS12140.1, CCDS45930.1, CCDS74265.1	19p13.3	2013-02-11				ENSG00000105426		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9681	protein-coding gene	gene with protein product		601576				8954782, 8524829	Standard	NM_002850		Approved		uc002mbv.3	Q13332		ENST00000587303.1:c.5756G>A	19.37:g.5207955C>T	ENSP00000467537:p.Arg1919Gln	Somatic		Capture	SOLID	Phase_I	5158955	NM_002850	O75255|O75870|Q15718|Q16341|Q2M3R7	Missense_Mutation	SNP	ENST00000587303.1	37	CCDS45930.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957946	0.92726	.	.	ENSG00000105426	ENST00000536396;ENST00000372412;ENST00000357368;ENST00000355005;ENST00000356037;ENST00000262963;ENST00000348075;ENST00000355322;ENST00000544524;ENST00000353284	T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62	2.88	2.88	0.33553	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.64402	U	0.000005	T	0.77572	0.4150	H	0.97158	3.95	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.999;0.983;0.999;0.999	D	0.85800	0.1373	10	0.87932	D	0	.	13.8518	0.63501	0.0:1.0:0.0:0.0	.	1501;1472;1476;1881;1919;1514	F8W800;Q13332-7;F5H2T4;Q13332-6;Q13332;Q59FX6	.;.;.;.;PTPRS_HUMAN;.	Q	1514;1920;1919;1919;1910;1899;1881;1501;1476;1472	ENSP00000361489:R1920Q;ENSP00000349932:R1919Q;ENSP00000262963:R1899Q;ENSP00000269907:R1881Q;ENSP00000327313:R1472Q	ENSP00000262963:R1899Q	R	-	2	0	PTPRS	5158955	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.562000	0.82300	1.458000	0.47871	0.471000	0.43371	CGG		0.607	PTPRS-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450762.2		
UBR5	51366	hgsc.bcm.edu	37	8	103300407	103300407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr8:103300407G>A	ENST00000520539.1	-	36	5407	c.4801C>T	c.(4801-4803)Caa>Taa	p.Q1601*	UBR5_ENST00000220959.4_Nonsense_Mutation_p.Q1601*|UBR5_ENST00000521922.1_Nonsense_Mutation_p.Q1595*|UBR5_ENST00000519528.1_5'UTR	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1601					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)	p.Q1601*(1)		NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TCATCATGTTGTCCCTCTGCC	0.423																																					p.Q1601X	Ovarian(131;96 1741 5634 7352 27489)											.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C4801T	8						.						237.0	215.0	222.0					8																	103300407		2203	4300	6503	103369583	SO:0001587	stop_gained	51366	exon36			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.4801C>T	8.37:g.103300407G>A	ENSP00000429084:p.Gln1601*	Somatic		Capture	SOLID	Phase_I	103369583	NM_015902	B2RP24|J3KMW7|O94970|Q9NPL3	Nonsense_Mutation	SNP	ENST00000520539.1	37	CCDS34933.1	.	.	.	.	.	.	.	.	.	.	G	48	14.061544	0.99777	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	.	.	.	5.05	5.05	0.67936	.	0.061993	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06625	T	0.88	.	18.7815	0.91934	0.0:0.0:1.0:0.0	.	.	.	.	X	1601;1601;1595	.	ENSP00000220959:Q1601X	Q	-	1	0	UBR5	103369583	1.000000	0.71417	0.832000	0.32986	0.528000	0.34623	9.657000	0.98554	2.531000	0.85337	0.655000	0.94253	CAA		0.423	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380075.2	NM_015902	
RHOBTB2	23221	hgsc.bcm.edu	37	8	22865062	22865062	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr8:22865062C>T	ENST00000251822.6	+	5	1841	c.1304C>T	c.(1303-1305)aCg>aTg	p.T435M	RP11-875O11.1_ENST00000523884.1_RNA|RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Missense_Mutation_p.T457M|RHOBTB2_ENST00000522948.1_Missense_Mutation_p.T442M	NM_015178.2	NP_055993.2	Q9BYZ6	RHBT2_HUMAN	Rho-related BTB domain containing 2	435	BTB 1. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)	p.T435M(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TACCTGTACACGGGGGAGCTA	0.562																																					p.T457M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1370T	8						.						111.0	110.0	110.0					8																	22865062		2203	4300	6503	22921007	SO:0001583	missense	23221	exon7			AF315385	CCDS6034.1, CCDS55210.1, CCDS55211.1	8p21.2	2013-01-08			ENSG00000008853	ENSG00000008853		"""BTB/POZ domain containing"""	18756	protein-coding gene	gene with protein product		607352				11222756	Standard	NM_001160036		Approved	KIAA0717, DBC2	uc011kzp.1	Q9BYZ6	OTTHUMG00000097827	ENST00000251822.6:c.1304C>T	8.37:g.22865062C>T	ENSP00000251822:p.Thr435Met	Somatic		Capture	SOLID	Phase_I	22921007	NM_001160036	A8K9Z8|D3DSR8|E9PBU2|E9PEI7|O94825|Q8N4A8|Q9BZK6	Missense_Mutation	SNP	ENST00000251822.6	37	CCDS6034.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.002550	0.74932	.	.	ENSG00000008853	ENST00000519685;ENST00000522948;ENST00000251822	T;T;T	0.72505	-0.66;-0.66;-0.66	4.89	4.89	0.63831	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.046408	0.85682	D	0.000000	D	0.83390	0.5244	M	0.69823	2.125	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.997;0.998	D	0.85609	0.1257	10	0.87932	D	0	.	16.971	0.86300	0.0:1.0:0.0:0.0	.	442;435;457	E9PEI7;Q9BYZ6;E9PBU2	.;RHBT2_HUMAN;.	M	457;442;435	ENSP00000427926:T457M;ENSP00000429141:T442M;ENSP00000251822:T435M	ENSP00000251822:T435M	T	+	2	0	RHOBTB2	22921007	1.000000	0.71417	0.984000	0.44739	0.986000	0.74619	5.993000	0.70616	2.393000	0.81446	0.655000	0.94253	ACG		0.562	RHOBTB2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215101.2		
ANK1	286	hgsc.bcm.edu	37	8	41552139	41552139	+	Missense_Mutation	SNP	C	C	T	rs147741842		TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr8:41552139C>T	ENST00000347528.4	-	28	3381	c.3298G>A	c.(3298-3300)Gtc>Atc	p.V1100I	ANK1_ENST00000265709.8_Missense_Mutation_p.V1141I|ANK1_ENST00000379758.2_Missense_Mutation_p.V1100I|ANK1_ENST00000289734.7_Missense_Mutation_p.V1100I|ANK1_ENST00000396942.1_Missense_Mutation_p.V1100I|ANK1_ENST00000396945.1_Missense_Mutation_p.V1100I|ANK1_ENST00000352337.4_Missense_Mutation_p.V1100I	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1100	ZU5 2. {ECO:0000255|PROSITE- ProRule:PRU00485}.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.V1100I(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CTCTTGGTGACGGCATTCTCC	0.647													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17839	0.0		0.0	False		,,,				2504	0.0				p.V1100I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3298A	8						.	C	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	2,4404	2.1+/-5.4	0,2,2201	70.0	64.0	66.0		3298,3421,3298,3298,3298	5.1	1.0	8	dbSNP_134	66	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	ANK1	NM_000037.3,NM_001142446.1,NM_020475.2,NM_020476.2,NM_020477.2	29,29,29,29,29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	1100/1881,1141/1898,1100/1857,1100/1882,1100/1720	41552139	2,13004	2203	4300	6503	41671296	SO:0001583	missense	286	exon28			M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.3298G>A	8.37:g.41552139C>T	ENSP00000339620:p.Val1100Ile	Somatic		Capture	SOLID	Phase_I	41671296	NM_020475	A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Missense_Mutation	SNP	ENST00000347528.4	37	CCDS6119.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.5|21.5	4.160446|4.160446	0.78226|0.78226	4.54E-4|4.54E-4	0.0|0.0	ENSG00000029534|ENSG00000029534	ENST00000520299|ENST00000347528;ENST00000289734;ENST00000379758;ENST00000396945;ENST00000396942;ENST00000352337;ENST00000265709;ENST00000358820	.|T;T;T;T;T;T;T	.|0.73152	.|-0.72;-0.72;-0.72;-0.72;-0.72;-0.72;-0.72	5.05|5.05	5.05|5.05	0.67936|0.67936	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.83008|0.83008	0.5161|0.5161	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;0.987;0.99;1.0;0.982	.|D;D;P;P;D;P	.|0.87578	.|0.998;0.942;0.701;0.576;0.998;0.759	D|D	0.84797|0.84797	0.0782|0.0782	5|10	.|0.87932	.|D	.|0	.|.	18.7799|18.7799	0.91928|0.91928	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1141;1100;1100;1100;1100;416	.|P16157-21;P16157-4;P16157;P16157-5;P16157-3;B3KX39	.|.;.;ANK1_HUMAN;.;.;.	H|I	421|1100;1100;1100;1100;1100;1100;1141;1100	.|ENSP00000339620:V1100I;ENSP00000289734:V1100I;ENSP00000369082:V1100I;ENSP00000380149:V1100I;ENSP00000380147:V1100I;ENSP00000309131:V1100I;ENSP00000265709:V1141I	.|ENSP00000265709:V1141I	R|V	-|-	2|1	0|0	ANK1|ANK1	41671296|41671296	1.000000|1.000000	0.71417|0.71417	0.955000|0.955000	0.39395|0.39395	0.551000|0.551000	0.35334|0.35334	4.849000|4.849000	0.62882|0.62882	2.495000|2.495000	0.84180|0.84180	0.462000|0.462000	0.41574|0.41574	CGT|GTC		0.647	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475	
TG	7038	hgsc.bcm.edu	37	8	133919102	133919102	+	Silent	SNP	C	C	T	rs61747461	byFrequency	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr8:133919102C>T	ENST00000220616.4	+	17	3844	c.3804C>T	c.(3802-3804)agC>agT	p.S1268S	TG_ENST00000377869.1_Silent_p.S1268S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1268					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)		p.S1268S(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCCTGGAGAGCGGACGCTGGG	0.652													C|||	10	0.00199681	0.0076	0.0	5008	,	,		18140	0.0		0.0	False		,,,				2504	0.0				p.S1268S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3804T	8						.	C		15,4391	21.2+/-45.6	0,15,2188	38.0	32.0	34.0		3804	-7.9	0.0	8	dbSNP_129	34	0,8600		0,0,4300	no	coding-synonymous	TG	NM_003235.4		0,15,6488	TT,TC,CC		0.0,0.3404,0.1153		1268/2769	133919102	15,12991	2203	4300	6503	133988284	SO:0001819	synonymous_variant	7038	exon17			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.3804C>T	8.37:g.133919102C>T		Somatic		Capture	SOLID	Phase_I	133988284	NM_003235	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	ENST00000220616.4	37	CCDS34944.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	6.388	0.439665	0.12104	0.003404	0.0	ENSG00000042832	ENST00000518505	.	.	.	5.42	-7.88	0.01178	.	.	.	.	.	T	0.26122	0.0637	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34004	-0.9846	4	.	.	.	.	8.7044	0.34345	0.0:0.4624:0.287:0.2507	rs61747461	.	.	.	V	212	.	.	A	+	2	0	TG	133988284	0.000000	0.05858	0.000000	0.03702	0.682000	0.39822	-1.341000	0.02647	-1.297000	0.02351	-0.320000	0.08662	GCG		0.652	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
NOTCH2	4853	hgsc.bcm.edu	37	1	120480046	120480046	+	Silent	SNP	G	G	A			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr1:120480046G>A	ENST00000256646.2	-	21	3600	c.3381C>T	c.(3379-3381)atC>atT	p.I1127I		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1127	EGF-like 29. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.I1127I(1)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCCAGCATTGATGCAGACAC	0.537			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																												p.I1127I			Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3381T	1						.						70.0	59.0	63.0					1																	120480046		2203	4300	6503	120281569	SO:0001819	synonymous_variant	4853	exon21	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.3381C>T	1.37:g.120480046G>A		Somatic		Capture	SOLID	Phase_I	120281569	NM_024408	Q5T3X7|Q99734|Q9H240	Silent	SNP	ENST00000256646.2	37	CCDS908.1																																																																																				0.537	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	
CFAP45	25790	hgsc.bcm.edu	37	1	159846377	159846377	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr1:159846377G>A	ENST00000368099.4	-	10	1385	c.1321C>T	c.(1321-1323)Cgg>Tgg	p.R441W	CCDC19_ENST00000426543.2_Missense_Mutation_p.R356W|CCDC19_ENST00000476696.1_5'UTR	NM_012337.2	NP_036469.2												p.R441W(1)		endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			TCCCGGTCCCGTTGCACCTGA	0.537																																					p.R441W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1321T	1						.						104.0	91.0	96.0					1																	159846377		2203	4300	6503	158113001	SO:0001583	missense	25790	exon10																														ENST00000368099.4:c.1321C>T	1.37:g.159846377G>A	ENSP00000357079:p.Arg441Trp	Somatic		Capture	SOLID	Phase_I	158113001	NM_012337		Missense_Mutation	SNP	ENST00000368099.4	37	CCDS30914.1	.	.	.	.	.	.	.	.	.	.	g	20.1	3.936854	0.73557	.	.	ENSG00000213085	ENST00000368099;ENST00000426543	T;T	0.10477	2.87;2.87	5.16	4.18	0.49190	.	0.300838	0.33792	N	0.004551	T	0.21718	0.0523	M	0.77313	2.365	0.49798	D	0.999827	D	0.89917	1.0	D	0.78314	0.991	T	0.00205	-1.1922	9	.	.	.	-19.9268	10.4734	0.44650	0.0:0.0:0.693:0.307	.	441	Q9UL16	CCD19_HUMAN	W	441;356	ENSP00000357079:R441W;ENSP00000403044:R356W	.	R	-	1	2	CCDC19	158113001	1.000000	0.71417	0.999000	0.59377	0.858000	0.48976	4.004000	0.57068	2.571000	0.86741	0.486000	0.48141	CGG		0.537	CCDC19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085979.1		
ECE1	1889	hgsc.bcm.edu	37	1	21586805	21586805	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr1:21586805C>T	ENST00000374893.6	-	5	648	c.574G>A	c.(574-576)Gag>Aag	p.E192K	ECE1_ENST00000357071.4_Missense_Mutation_p.E180K|ECE1_ENST00000415912.2_Missense_Mutation_p.E176K|ECE1_ENST00000436918.2_Missense_Mutation_p.E192K|ECE1_ENST00000264205.6_Missense_Mutation_p.E189K	NM_001397.2	NP_001388.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	192					bradykinin catabolic process (GO:0010815)|calcitonin catabolic process (GO:0010816)|ear development (GO:0043583)|embryonic digit morphogenesis (GO:0042733)|endothelin maturation (GO:0034959)|heart development (GO:0007507)|hormone catabolic process (GO:0042447)|peptide hormone processing (GO:0016486)|pharyngeal system development (GO:0060037)|positive regulation of receptor recycling (GO:0001921)|protein processing (GO:0016485)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|substance P catabolic process (GO:0010814)	early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endosome membrane (GO:0031302)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)|Weibel-Palade body (GO:0033093)	endopeptidase activity (GO:0004175)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide hormone binding (GO:0017046)|protein homodimerization activity (GO:0042803)	p.E192K(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CTGAGCTCCTCGATCCTGGTC	0.607																																					p.E176K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G526A	1						.						293.0	262.0	272.0					1																	21586805		2203	4300	6503	21459392	SO:0001583	missense	1889	exon5			D49471	CCDS215.1, CCDS44081.1, CCDS44082.1, CCDS44083.1	1p36.1	2008-02-05			ENSG00000117298	ENSG00000117298			3146	protein-coding gene	gene with protein product		600423		ECE		7805846, 7864876, 17592116	Standard	NM_001397		Approved		uc001bei.2	P42892	OTTHUMG00000002625	ENST00000374893.6:c.574G>A	1.37:g.21586805C>T	ENSP00000364028:p.Glu192Lys	Somatic		Capture	SOLID	Phase_I	21459392	NM_001113348	A8K3P1|B4E291|Q14217|Q17RN5|Q2Z2K8|Q58GE7|Q5THM5|Q5THM7|Q5THM8|Q9UJQ6|Q9UPF4|Q9UPM4|Q9Y501	Missense_Mutation	SNP	ENST00000374893.6	37	CCDS215.1	.	.	.	.	.	.	.	.	.	.	C	35	5.487389	0.96323	.	.	ENSG00000117298	ENST00000415912;ENST00000357071;ENST00000374893;ENST00000436918;ENST00000264205	T;T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91;-0.91	5.4	5.4	0.78164	Peptidase M13 (1);	0.000000	0.85682	D	0.000000	D	0.88407	0.6428	M	0.88031	2.925	0.80722	D	1	D;D;D;D;D	0.76494	0.999;0.998;0.994;0.997;0.997	D;D;P;P;P	0.72338	0.977;0.941;0.822;0.902;0.902	D	0.90310	0.4336	10	0.72032	D	0.01	-37.3003	17.7529	0.88440	0.0:1.0:0.0:0.0	.	192;176;192;180;189	B4DKB2;Q2Z2K8;P42892;P42892-2;P42892-4	.;.;ECE1_HUMAN;.;.	K	176;180;192;192;189	ENSP00000405088:E176K;ENSP00000349581:E180K;ENSP00000364028:E192K;ENSP00000388439:E192K;ENSP00000264205:E189K	ENSP00000264205:E189K	E	-	1	0	ECE1	21459392	0.998000	0.40836	0.999000	0.59377	0.694000	0.40290	3.781000	0.55394	2.532000	0.85374	0.313000	0.20887	GAG		0.607	ECE1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007470.2	NM_001397	
LUZP1	7798	hgsc.bcm.edu	37	1	23417829	23417829	+	Nonsense_Mutation	SNP	G	G	A	rs150118576		TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr1:23417829G>A	ENST00000302291.4	-	4	3727	c.2926C>T	c.(2926-2928)Cga>Tga	p.R976*	LUZP1_ENST00000374623.3_Nonsense_Mutation_p.R976*|LUZP1_ENST00000418342.1_Nonsense_Mutation_p.R976*|LUZP1_ENST00000314174.5_Nonsense_Mutation_p.R976*			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	976					artery development (GO:0060840)|neural fold bending (GO:0021503)|ventricular septum development (GO:0003281)	membrane (GO:0016020)|nucleus (GO:0005634)		p.R976*(1)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CCTACCCTTCGAGTGCCCTGC	0.552																																					p.R976X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C2926T	1						.						98.0	85.0	90.0					1																	23417829		2203	4300	6503	23290416	SO:0001587	stop_gained	7798	exon4			BC051733	CCDS30628.1	1p36	2008-02-05			ENSG00000169641	ENSG00000169641			14985	protein-coding gene	gene with protein product		601422				8812416	Standard	NM_033631		Approved	LUZP	uc010odv.1	Q86V48	OTTHUMG00000003227	ENST00000302291.4:c.2926C>T	1.37:g.23417829G>A	ENSP00000303758:p.Arg976*	Somatic		Capture	SOLID	Phase_I	23290416	NM_033631	Q5TH93|Q8N4X3|Q8TEH1	Nonsense_Mutation	SNP	ENST00000302291.4	37	CCDS30628.1	.	.	.	.	.	.	.	.	.	.	G	40	8.060277	0.98635	.	.	ENSG00000169641	ENST00000418342;ENST00000374623;ENST00000302291;ENST00000314174	.	.	.	4.93	4.0	0.46444	.	0.191414	0.25851	N	0.027897	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.1504	0.54046	0.0:0.0:0.8286:0.1714	.	.	.	.	X	976	.	ENSP00000303758:R976X	R	-	1	2	LUZP1	23290416	0.001000	0.12720	0.074000	0.20217	0.988000	0.76386	0.459000	0.21908	1.287000	0.44583	0.585000	0.79938	CGA		0.552	LUZP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008900.3	NM_033631	
HSD17B7	51478	hgsc.bcm.edu	37	1	162766411	162766411	+	Silent	SNP	G	G	T	rs532041312		TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr1:162766411G>T	ENST00000254521.3	+	3	331	c.276G>T	c.(274-276)ggG>ggT	p.G92G	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000367913.1_Silent_p.G92G|HSD17B7_ENST00000367917.3_Silent_p.G92G	NM_016371.2	NP_057455.1	P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	92					cholesterol biosynthetic process (GO:0006695)|estrogen biosynthetic process (GO:0006703)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	3-keto sterol reductase activity (GO:0000253)|estradiol 17-beta-dehydrogenase activity (GO:0004303)	p.G92G(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)					TAAATGCTGGGATCATGCCTA	0.358																																					p.G92G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G276T	1						.						152.0	134.0	140.0					1																	162766411		2203	4300	6503	161033035	SO:0001819	synonymous_variant	51478	exon3			AF098786	CCDS1242.1	1q23	2011-09-14			ENSG00000132196	ENSG00000132196	1.1.1.270	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5215	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 37C, member 1"""	606756				10544267, 10419022, 19027726	Standard	NM_016371		Approved	PRAP, SDR37C1	uc001gci.3	P56937	OTTHUMG00000034420	ENST00000254521.3:c.276G>T	1.37:g.162766411G>T		Somatic		Capture	SOLID	Phase_I	161033035	NM_016371	Q5T246|Q7Z4V9|Q8WWS2|Q9UF00	Silent	SNP	ENST00000254521.3	37	CCDS1242.1																																																																																				0.358	HSD17B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083207.1	NM_016371	
ACTN2	88	hgsc.bcm.edu	37	1	236918396	236918396	+	Missense_Mutation	SNP	C	C	A	rs202135204		TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr1:236918396C>A	ENST00000366578.4	+	17	2218	c.2052C>A	c.(2050-2052)aaC>aaA	p.N684K	ACTN2_ENST00000542672.1_Missense_Mutation_p.N684K|ACTN2_ENST00000546208.1_Missense_Mutation_p.N178K	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	684					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.N684K(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ATGAGCACAACATCATCAACT	0.532																																					p.N684K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2052A	1						.						189.0	181.0	184.0					1																	236918396		2203	4300	6503	234985019	SO:0001583	missense	88	exon17			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.2052C>A	1.37:g.236918396C>A	ENSP00000355537:p.Asn684Lys	Somatic		Capture	SOLID	Phase_I	234985019	NM_001103	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Missense_Mutation	SNP	ENST00000366578.4	37	CCDS1613.1	.	.	.	.	.	.	.	.	.	.	C	12.10	1.835526	0.32421	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000546208;ENST00000545611	T;T;T	0.41758	0.99;0.99;0.99	4.62	4.62	0.57501	.	0.371203	0.33235	N	0.005138	T	0.52789	0.1756	L	0.59436	1.845	0.51767	D	0.999936	D;B;D;P	0.60575	0.962;0.074;0.988;0.92	D;B;D;P	0.63957	0.92;0.041;0.92;0.662	T	0.48234	-0.9053	10	0.27785	T	0.31	.	9.0351	0.36282	0.0:0.8585:0.0:0.1415	.	469;684;454;684	B7Z4K1;B2RCS5;Q59FD9;P35609	.;.;.;ACTN2_HUMAN	K	684;684;178;453	ENSP00000443495:N684K;ENSP00000355537:N684K;ENSP00000438384:N178K	ENSP00000355537:N684K	N	+	3	2	ACTN2	234985019	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.027000	0.41078	2.100000	0.63781	0.557000	0.71058	AAC		0.532	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103	
DKK3	27122	hgsc.bcm.edu	37	11	11989955	11989955	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr11:11989955C>T	ENST00000396505.2	-	5	753	c.515G>A	c.(514-516)cGg>cAg	p.R172Q	DKK3_ENST00000527132.1_Intron|DKK3_ENST00000450094.2_Missense_Mutation_p.R144Q|DKK3_ENST00000525493.1_Missense_Mutation_p.R172Q|DKK3_ENST00000326932.4_Missense_Mutation_p.R172Q	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	172	DKK-type Cys-1.				adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)		p.R172Q(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		CCTCTGGCCCCGGCATGGCTG	0.652																																					p.R172Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G515A	11						.						56.0	51.0	53.0					11																	11989955		2201	4294	6495	11946531	SO:0001583	missense	27122	exon4			AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"""regulated in glioma"""	605416	"""dickkopf (Xenopus laevis) homolog 3"", ""dickkopf 3 homolog (Xenopus laevis)"""			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.515G>A	11.37:g.11989955C>T	ENSP00000379762:p.Arg172Gln	Somatic		Capture	SOLID	Phase_I	11946531	NM_001018057	A8K1I2|D3DQW1|Q9ULB7	Missense_Mutation	SNP	ENST00000396505.2	37	CCDS7808.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969512	0.53614	.	.	ENSG00000050165	ENST00000396505;ENST00000326932;ENST00000366345;ENST00000525493;ENST00000450094;ENST00000326914;ENST00000533813;ENST00000534511	T;T;T;T;T;T	0.46063	1.97;1.97;1.98;1.32;1.77;0.88	5.45	3.34	0.38264	Dickkopf, N-terminal cysteine-rich (1);	0.300218	0.34245	N	0.004130	T	0.34658	0.0905	L	0.34521	1.04	0.30099	N	0.807613	D;D;D	0.59357	0.985;0.968;0.985	P;B;P	0.49597	0.616;0.248;0.489	T	0.30119	-0.9989	10	0.52906	T	0.07	-21.3197	4.5846	0.12277	0.0:0.5832:0.0:0.4168	.	172;144;172	F6SYF8;E7EUD0;Q9UBP4	.;.;DKK3_HUMAN	Q	172;172;115;172;144;16;172;144	ENSP00000379762:R172Q;ENSP00000314910:R172Q;ENSP00000433112:R172Q;ENSP00000398365:R144Q;ENSP00000435269:R172Q;ENSP00000436645:R144Q	ENSP00000314730:R16Q	R	-	2	0	DKK3	11946531	0.978000	0.34361	1.000000	0.80357	0.344000	0.29017	1.371000	0.34250	1.298000	0.44778	0.655000	0.94253	CGG		0.652	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385863.1	NM_013253	
SCN3B	55800	hgsc.bcm.edu	37	11	123513183	123513183	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr11:123513183C>T	ENST00000392770.2	-	3	1218	c.416G>A	c.(415-417)cGg>cAg	p.R139Q	SCN3B_ENST00000530277.1_Missense_Mutation_p.R139Q|SCN3B_ENST00000299333.3_Missense_Mutation_p.R139Q	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	139	Ig-like C2-type.				atrial cardiac muscle cell action potential (GO:0086014)|axon guidance (GO:0007411)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|positive regulation of heart rate (GO:0010460)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|ventricular cardiac muscle cell action potential (GO:0086005)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ion channel binding (GO:0044325)|sodium channel regulator activity (GO:0017080)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)	p.R139Q(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)	Valproic Acid(DB00313)|Zonisamide(DB00909)	GGGGATCAGCCGCGTCGTCTT	0.582																																					p.R139Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G416A	11						.						70.0	66.0	67.0					11																	123513183		2202	4299	6501	123018393	SO:0001583	missense	55800	exon3			AJ243396	CCDS8442.1	11q24.1	2014-09-17	2012-02-28		ENSG00000166257	ENSG00000166257		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"", ""Immunoglobulin superfamily / V-set domain containing"""	20665	protein-coding gene	gene with protein product		608214	"""sodium channel, voltage-gated, type III, beta"""			10688874	Standard	XR_428980		Approved	HSA243396	uc001pzb.1	Q9NY72	OTTHUMG00000166006	ENST00000392770.2:c.416G>A	11.37:g.123513183C>T	ENSP00000376523:p.Arg139Gln	Somatic		Capture	SOLID	Phase_I	123018393	NM_018400	A5H1I5|Q17RL3|Q9ULR2	Missense_Mutation	SNP	ENST00000392770.2	37	CCDS8442.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.094980	0.76870	.	.	ENSG00000166257	ENST00000392770;ENST00000299333;ENST00000530277;ENST00000527836	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	6.03	6.03	0.97812	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.245663	0.45126	D	0.000392	T	0.43787	0.1263	L	0.36672	1.1	0.39751	D	0.971882	P	0.42993	0.797	B	0.32022	0.139	T	0.42292	-0.9460	10	0.17832	T	0.49	-4.7666	10.1542	0.42812	0.0:0.7921:0.1376:0.0703	.	139	Q9NY72	SCN3B_HUMAN	Q	139	ENSP00000376523:R139Q;ENSP00000299333:R139Q;ENSP00000432785:R139Q;ENSP00000435554:R139Q	ENSP00000299333:R139Q	R	-	2	0	SCN3B	123018393	0.998000	0.40836	1.000000	0.80357	0.986000	0.74619	2.986000	0.49370	2.854000	0.98071	0.655000	0.94253	CGG		0.582	SCN3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387412.1	NM_018400	
OR8B8	26493	hgsc.bcm.edu	37	11	124310897	124310897	+	Missense_Mutation	SNP	A	A	C	rs530175526		TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr11:124310897A>C	ENST00000328064.2	-	1	157	c.85T>G	c.(85-87)Ttc>Gtc	p.F29V		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	29					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.F29V(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AGAAACAGGAAGAAGAGGGGG	0.498																																					p.F29V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T85G	11						.						71.0	71.0	71.0					11																	124310897		2201	4299	6500	123816107	SO:0001583	missense	26493	exon1			AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.85T>G	11.37:g.124310897A>C	ENSP00000330280:p.Phe29Val	Somatic		Capture	SOLID	Phase_I	123816107	NM_012378	A1L446|Q96RC8	Missense_Mutation	SNP	ENST00000328064.2	37	CCDS8446.1	.	.	.	.	.	.	.	.	.	.	A	12.30	1.896201	0.33442	.	.	ENSG00000197125	ENST00000328064	T	0.07800	3.16	4.08	2.96	0.34315	.	0.612564	0.14448	N	0.318950	T	0.02380	0.0073	N	0.00980	-1.08	0.26329	N	0.977549	P	0.38420	0.63	B	0.39027	0.288	T	0.26780	-1.0093	10	0.22706	T	0.39	.	2.4367	0.04485	0.6085:0.1541:0.088:0.1494	.	29	Q15620	OR8B8_HUMAN	V	29	ENSP00000330280:F29V	ENSP00000330280:F29V	F	-	1	0	OR8B8	123816107	0.000000	0.05858	0.998000	0.56505	0.799000	0.45148	-0.401000	0.07232	0.910000	0.36722	0.455000	0.32223	TTC		0.498	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387056.1	NM_012378	
SYT9	143425	hgsc.bcm.edu	37	11	7334771	7334771	+	Missense_Mutation	SNP	C	C	T	rs188796269	byFrequency	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr11:7334771C>T	ENST00000318881.6	+	3	880	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	SYT9_ENST00000396716.2_Missense_Mutation_p.R183W	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	215					positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)	p.R215W(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGACGGGAGACGGAGTAACAG	0.398													C|||	3	0.000599042	0.0	0.0	5008	,	,		19696	0.003		0.0	False		,,,				2504	0.0				p.R215W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C643T	11						.						129.0	132.0	131.0					11																	7334771		2201	4296	6497	7291347	SO:0001583	missense	143425	exon3			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.643C>T	11.37:g.7334771C>T	ENSP00000324419:p.Arg215Trp	Somatic		Capture	SOLID	Phase_I	7291347	NM_175733		Missense_Mutation	SNP	ENST00000318881.6	37	CCDS7778.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	17.34	3.364978	0.61513	.	.	ENSG00000170743	ENST00000396716;ENST00000318881	T;T	0.08008	3.14;3.14	5.85	4.73	0.59995	.	0.137512	0.51477	D	0.000085	T	0.15349	0.0370	L	0.54323	1.7	0.35292	D	0.782231	P	0.52463	0.953	P	0.50934	0.654	T	0.12400	-1.0549	10	0.72032	D	0.01	.	11.6229	0.51128	0.8441:0.1559:0.0:0.0	.	215	Q86SS6	SYT9_HUMAN	W	183;215	ENSP00000379944:R183W;ENSP00000324419:R215W	ENSP00000324419:R215W	R	+	1	2	SYT9	7291347	1.000000	0.71417	0.995000	0.50966	0.911000	0.54048	2.566000	0.45948	1.155000	0.42497	-0.281000	0.10026	CGG		0.398	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384483.1	NM_175733	
MRGPRD	116512	hgsc.bcm.edu	37	11	68747645	68747645	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr11:68747645C>T	ENST00000309106.3	-	1	810	c.811G>A	c.(811-813)Gcc>Acc	p.A271T		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	271						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A271T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACGGGGTTGGCGCTGCTGCTT	0.637																																					p.A271T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G811A	11						.						51.0	47.0	48.0					11																	68747645		2200	4294	6494	68504221	SO:0001583	missense	116512	exon1			AB083627	CCDS31625.1	11q13.3	2012-08-21			ENSG00000172938	ENSG00000172938		"""GPCR / Class A : Orphans"""	29626	protein-coding gene	gene with protein product		607231				11551509, 12909716	Standard	NM_198923		Approved	mrgD	uc010rqf.2	Q8TDS7	OTTHUMG00000167896	ENST00000309106.3:c.811G>A	11.37:g.68747645C>T	ENSP00000310631:p.Ala271Thr	Somatic		Capture	SOLID	Phase_I	68504221	NM_198923	Q8NGK7	Missense_Mutation	SNP	ENST00000309106.3	37	CCDS31625.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116344	0.37339	.	.	ENSG00000172938	ENST00000309106	T	0.37752	1.18	4.85	1.91	0.25777	GPCR, rhodopsin-like superfamily (1);	0.321368	0.22055	U	0.065257	T	0.52948	0.1766	M	0.89534	3.04	0.20196	N	0.999924	D	0.59767	0.986	P	0.57057	0.812	T	0.42430	-0.9452	10	0.29301	T	0.29	-16.5744	6.4462	0.21877	0.0:0.6296:0.0:0.3704	.	271	Q8TDS7	MRGRD_HUMAN	T	271	ENSP00000310631:A271T	ENSP00000310631:A271T	A	-	1	0	MRGPRD	68504221	0.058000	0.20735	0.109000	0.21407	0.030000	0.12068	0.307000	0.19296	1.041000	0.40125	0.446000	0.29264	GCC		0.637	MRGPRD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396874.1	NM_198923	
OPCML	4978	hgsc.bcm.edu	37	11	132307168	132307168	+	Silent	SNP	C	C	T	rs148098619		TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr11:132307168C>T	ENST00000331898.7	-	4	1190	c.612G>A	c.(610-612)gcG>gcA	p.A204A	OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000541867.1_Silent_p.A204A|OPCML_ENST00000524381.1_Silent_p.A197A|OPCML_ENST00000374778.4_Silent_p.A163A	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	204	Ig-like C2-type 2.				cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)	p.A204A(2)		endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CATCGTTCAACGCGCTGCATT	0.547																																					p.A197A												.	.	2	Substitution - coding silent(2)	ovary(1)|large_intestine(1)	c.G591A	11						.	C	,	0,4402		0,0,2201	118.0	101.0	107.0		591,612	-1.2	0.9	11	dbSNP_134	107	1,8593	1.2+/-3.3	0,1,4296	no	coding-synonymous,coding-synonymous	OPCML	NM_001012393.1,NM_002545.3	,	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	,	197/339,204/346	132307168	1,12995	2201	4297	6498	131812378	SO:0001819	synonymous_variant	4978	exon5			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000331898.7:c.612G>A	11.37:g.132307168C>T		Somatic		Capture	SOLID	Phase_I	131812378	NM_001012393	B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	Silent	SNP	ENST00000331898.7	37	CCDS8492.1																																																																																				0.547	OPCML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374689.3	NM_001012393	
KIAA0319	9856	hgsc.bcm.edu	37	6	24596282	24596282	+	Missense_Mutation	SNP	G	G	A	rs141114963		TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr6:24596282G>A	ENST00000378214.3	-	3	1144	c.620C>T	c.(619-621)gCg>gTg	p.A207V	KIAA0319_ENST00000430948.2_Missense_Mutation_p.A162V|KIAA0319_ENST00000543707.1_Missense_Mutation_p.A207V|KIAA0319_ENST00000535378.1_Missense_Mutation_p.A198V|KIAA0319_ENST00000537886.1_Missense_Mutation_p.A207V	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	207					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A207V(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTGCGTCTCCGCTGGCACCGC	0.622																																					p.A207V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C620T	6						.	G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	41.0	37.0	38.0		593,620,485,620,620	-8.1	0.0	6	dbSNP_134	38	0,8600		0,0,4300	no	missense,missense,missense,missense,missense	KIAA0319	NM_001168374.1,NM_001168375.1,NM_001168376.1,NM_001168377.1,NM_014809.3	64,64,64,64,64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign,benign	198/1064,207/1073,162/1028,207/1012,207/1073	24596282	1,13005	2203	4300	6503	24704261	SO:0001583	missense	9856	exon3			AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.620C>T	6.37:g.24596282G>A	ENSP00000367459:p.Ala207Val	Somatic		Capture	SOLID	Phase_I	24704261	NM_001168377	A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	G	9.494	1.101409	0.20632	2.27E-4	0.0	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.06933	3.24;3.24;3.25;3.24;3.24	4.03	-8.06	0.01102	.	1.685840	0.03421	N	0.206303	T	0.01523	0.0049	L	0.29908	0.895	0.09310	N	1	B;B;B	0.21309	0.054;0.054;0.032	B;B;B	0.12156	0.007;0.004;0.003	T	0.36841	-0.9731	10	0.39692	T	0.17	2.2252	6.1653	0.20386	0.2774:0.0:0.2625:0.46	.	207;198;207	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	V	207;198;162;207;207	ENSP00000439700:A207V;ENSP00000442403:A198V;ENSP00000401086:A162V;ENSP00000367459:A207V;ENSP00000437656:A207V	ENSP00000367459:A207V	A	-	2	0	KIAA0319	24704261	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.662000	0.01970	-1.790000	0.01263	-0.913000	0.02753	GCG		0.622	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809	
ITPR3	3710	hgsc.bcm.edu	37	6	33635629	33635629	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr6:33635629G>A	ENST00000374316.5	+	17	2834	c.1774G>A	c.(1774-1776)Gag>Aag	p.E592K	ITPR3_ENST00000605930.1_Missense_Mutation_p.E592K			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	592					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport into cytosol (GO:0060402)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|response to calcium ion (GO:0051592)|sensory perception of bitter taste (GO:0050913)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nuclear outer membrane (GO:0005640)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)	inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|inositol 1,4,5 trisphosphate binding (GO:0070679)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|inositol hexakisphosphate binding (GO:0000822)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.E592K(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85					Caffeine(DB00201)	CATCCTGGCCGAGGACACCAT	0.582																																					p.E592K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1774A	6						.						182.0	136.0	152.0					6																	33635629		2203	4300	6503	33743607	SO:0001583	missense	3710	exon16			D26351	CCDS4783.1	6p21.31	2011-11-24	2011-04-28		ENSG00000096433	ENSG00000096433		"""Ion channels / Inositol triphosphate receptors"""	6182	protein-coding gene	gene with protein product		147267	"""inositol 1,4,5-triphosphate receptor, type 3"""			8081734, 8288584	Standard	NM_002224		Approved	IP3R3	uc021ywr.1	Q14573	OTTHUMG00000014532	ENST00000374316.5:c.1774G>A	6.37:g.33635629G>A	ENSP00000363435:p.Glu592Lys	Somatic		Capture	SOLID	Phase_I	33743607	NM_002224	Q14649|Q5TAQ2	Missense_Mutation	SNP	ENST00000374316.5	37	CCDS4783.1	.	.	.	.	.	.	.	.	.	.	G	19.52	3.842318	0.71488	.	.	ENSG00000096433	ENST00000374316	D	0.95724	-3.79	5.27	4.4	0.53042	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.96703	0.8924	M	0.92219	3.285	0.80722	D	1	D	0.58268	0.982	P	0.52109	0.69	D	0.96841	0.9618	10	0.87932	D	0	-20.9144	14.0802	0.64917	0.0731:0.0:0.9269:0.0	.	592	Q14573	ITPR3_HUMAN	K	592	ENSP00000363435:E592K	ENSP00000363435:E592K	E	+	1	0	ITPR3	33743607	1.000000	0.71417	0.574000	0.28523	0.134000	0.20937	9.833000	0.99426	1.231000	0.43661	-0.263000	0.10527	GAG		0.582	ITPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040204.2	NM_002224	
TCTE1	202500	hgsc.bcm.edu	37	6	44248004	44248004	+	Nonsense_Mutation	SNP	G	G	A	rs200125637		TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr6:44248004G>A	ENST00000371505.4	-	5	1542	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*	TCTE1_ENST00000371504.1_Nonsense_Mutation_p.R171*|TCTE1_ENST00000371503.3_Nonsense_Mutation_p.R171*|TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	474								p.R474*(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCTGCTTCTCGGTTTGCGTAG	0.552																																					p.R474X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1420T	6						.	G	stop/ARG	0,4406		0,0,2203	91.0	96.0	94.0		1420	3.3	0.9	6		94	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	TCTE1	NM_182539.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		474/502	44248004	1,13005	2203	4300	6503	44355982	SO:0001587	stop_gained	202500	exon5			BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.1420C>T	6.37:g.44248004G>A	ENSP00000360560:p.Arg474*	Somatic		Capture	SOLID	Phase_I	44355982	NM_182539	B4DX59|Q8IYS6	Nonsense_Mutation	SNP	ENST00000371505.4	37	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	G	15.97	2.990136	0.54041	0.0	1.16E-4	ENSG00000146221	ENST00000371505;ENST00000371503;ENST00000371504	.	.	.	5.17	3.31	0.37934	.	0.398379	0.25433	N	0.030714	.	.	.	.	.	.	0.53688	D	0.999979	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	-7.7767	14.1913	0.65639	0.0:0.0:0.6115:0.3885	.	.	.	.	X	474;171;171	.	ENSP00000360558:R171X	R	-	1	2	TCTE1	44355982	1.000000	0.71417	0.925000	0.36789	0.577000	0.36160	2.917000	0.48821	0.632000	0.30432	0.563000	0.77884	CGA		0.552	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539	
NT5DC1	221294	hgsc.bcm.edu	37	6	116559379	116559379	+	Silent	SNP	A	A	G			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr6:116559379A>G	ENST00000319550.4	+	10	1033	c.951A>G	c.(949-951)tcA>tcG	p.S317S		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	317							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.S317S(1)		large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		GCATGCATTCAGATATTTTCC	0.443																																					p.S317S	Colon(128;1440 1664 38087 41475 42869)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A951G	6						.						170.0	156.0	161.0					6																	116559379		2203	4300	6503	116666072	SO:0001819	synonymous_variant	221294	exon10			BC015138	CCDS5104.1	6q22.31	2008-02-05	2006-01-27	2006-01-27	ENSG00000178425	ENSG00000178425			21556	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic II-like 1"""	NT5C2L1			Standard	NM_152729		Approved	dJ486I3.1, MGC24302	uc003pwj.3	Q5TFE4	OTTHUMG00000015428	ENST00000319550.4:c.951A>G	6.37:g.116559379A>G		Somatic		Capture	SOLID	Phase_I	116666072	NM_152729	B2RND9|B3KR35|Q6XYD5	Silent	SNP	ENST00000319550.4	37	CCDS5104.1																																																																																				0.443	NT5DC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041931.3	NM_152729	
TP53	7157	hgsc.bcm.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575|rs397516437		TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr17:7577548C>T	ENST00000269305.4	-	7	922	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000420246.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											p.G245S	Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	TP53,central_nervous_system,brain,Substitution - Missense,0	.	420	Substitution - Missense(390)|Deletion - Frameshift(8)|Whole gene deletion(8)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)|Insertion - Frameshift(1)	large_intestine(119)|lung(51)|breast(38)|ovary(29)|central_nervous_system(27)|upper_aerodigestive_tract(25)|stomach(25)|haematopoietic_and_lymphoid_tissue(23)|oesophagus(22)|urinary_tract(14)|skin(9)|liver(7)|prostate(7)|biliary_tract(5)|bone(5)|pancreas(4)|soft_tissue(3)|vulva(2)|endometrium(2)|kidney(1)|cervix(1)|salivary_gland(1)	c.G733A	17	GRCh37	CM010463|CM900210|CM920674	TP53	M	rs28934575	.	C	SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY,SER/GLY	0,4406		0,0,2203	149.0	112.0	125.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	733,733,733,733,337,337,337	4.6	1.0	17	dbSNP_125	125	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	56,56,56,56,56,56,56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	245/394,245/394,245/347,245/342,113/262,113/210,113/215	7577548	1,13005	2203	4300	6503	7518273	SO:0001583	missense	7157	exon7	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.733G>A	17.37:g.7577548C>T	ENSP00000269305:p.Gly245Ser	Somatic		Capture	SOLID	Phase_I	7518273	NM_001126114	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	33	5.259904	0.95368	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99894	-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58;-7.58	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99878	0.9942	M	0.84585	2.705	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.976;0.992;0.999;0.999;1.0	D	0.96039	0.9023	10	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	rs28934575	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	S	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245S;ENSP00000352610:G245S;ENSP00000269305:G245S;ENSP00000398846:G245S;ENSP00000391127:G245S;ENSP00000391478:G245S;ENSP00000425104:G113S;ENSP00000423862:G152S	ENSP00000269305:G245S	G	-	1	0	TP53	7518273	1.000000	0.71417	0.965000	0.40720	0.974000	0.67602	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
DNAH2	146754	hgsc.bcm.edu	37	17	7708621	7708621	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr17:7708621C>T	ENST00000572933.1	+	61	10812	c.9352C>T	c.(9352-9354)Cgg>Tgg	p.R3118W	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3118W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3118	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R3118W(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTCTTATGGACGGCCCCCAGC	0.532																																					p.R3118W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C9352T	17						.						107.0	105.0	106.0					17																	7708621		2203	4300	6503	7649346	SO:0001583	missense	146754	exon60			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.9352C>T	17.37:g.7708621C>T	ENSP00000458355:p.Arg3118Trp	Somatic		Capture	SOLID	Phase_I	7649346	NM_020877	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	ENST00000572933.1	37	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.295865	0.81025	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.74526	-0.85	5.52	5.52	0.82312	Dynein heavy chain, coiled coil stalk (1);	0.061993	0.64402	D	0.000004	D	0.89008	0.6593	M	0.90145	3.09	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.968;0.987	D	0.90931	0.4790	10	0.87932	D	0	.	18.2114	0.89871	0.0:1.0:0.0:0.0	.	3079;3118	Q9P225-2;Q9P225	.;DYH2_HUMAN	W	3079;3118	ENSP00000373825:R3118W	ENSP00000353818:R3079W	R	+	1	2	DNAH2	7649346	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.110000	0.50352	2.605000	0.88082	0.591000	0.81541	CGG		0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877	
BLMH	642	hgsc.bcm.edu	37	17	28599596	28599596	+	Silent	SNP	G	G	A			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr17:28599596G>A	ENST00000261714.6	-	9	1185	c.1011C>T	c.(1009-1011)ggC>ggT	p.G337G	BLMH_ENST00000582669.1_5'Flank|BLMH_ENST00000394819.3_Silent_p.G250G	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	337					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|carboxypeptidase activity (GO:0004180)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)	p.G337G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13					Bleomycin(DB00290)	TGTCACTGAGGCCCAGCTTGC	0.433																																					p.G337G	Pancreas(127;628 1772 12912 33293 36203)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1011T	17						.						227.0	226.0	227.0					17																	28599596		2203	4300	6503	25623722	SO:0001819	synonymous_variant	642	exon9			X92106	CCDS32604.1	17q11.2	2004-02-16				ENSG00000108578			1059	protein-coding gene	gene with protein product		602403				9407121, 9331073	Standard	NM_000386		Approved	BH	uc002hez.2	Q13867		ENST00000261714.6:c.1011C>T	17.37:g.28599596G>A		Somatic		Capture	SOLID	Phase_I	25623722	NM_000386	B2R796|Q53F86|Q9UER9	Silent	SNP	ENST00000261714.6	37	CCDS32604.1																																																																																				0.433	BLMH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447940.1	NM_000386	
TIAM1	7074	hgsc.bcm.edu	37	21	32502559	32502559	+	Silent	SNP	C	C	T	rs145341566		TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr21:32502559C>T	ENST00000286827.3	-	26	4488	c.4017G>A	c.(4015-4017)gcG>gcA	p.A1339A	TIAM1_ENST00000541036.1_Silent_p.A1279A	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1339	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.		A -> V (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A1339A(5)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GAACCTGCAGCGCTTCCGTGG	0.488																																					p.A1339A												TIAM1,large_intestine,rectum,Substitution - Missense,-1	.	5	Substitution - coding silent(5)	large_intestine(4)|breast(1)	c.G4017A	21						.	C		0,4406		0,0,2203	180.0	178.0	179.0		4017	-10.5	0.4	21	dbSNP_134	179	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TIAM1	NM_003253.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1339/1592	32502559	1,13005	2203	4300	6503	31424430	SO:0001819	synonymous_variant	7074	exon26				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869	ENST00000286827.3:c.4017G>A	21.37:g.32502559C>T		Somatic		Capture	SOLID	Phase_I	31424430	NM_003253	B7ZLR6|F5GZ53|Q17RT7	Silent	SNP	ENST00000286827.3	37	CCDS13609.1																																																																																				0.488	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000192552.1	NM_003253	
GP2	2813	hgsc.bcm.edu	37	16	20335421	20335421	+	Silent	SNP	C	C	T			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr16:20335421C>T	ENST00000381362.4	-	3	328	c.252G>A	c.(250-252)ggG>ggA	p.G84G	GP2_ENST00000381360.5_Intron|GP2_ENST00000341642.5_Intron|GP2_ENST00000302555.5_Silent_p.G84G|GP2_ENST00000573897.1_5'Flank	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	84					antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)	p.G84G(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TTTTATCGCACCCCTGGGACC	0.567																																					p.G84G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G252A	16						.						72.0	62.0	65.0					16																	20335421		2203	4300	6503	20242922	SO:0001819	synonymous_variant	2813	exon3			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.252G>A	16.37:g.20335421C>T		Somatic		Capture	SOLID	Phase_I	20242922	NM_001502	A6NFM9|A6NJA8|Q13338|Q9UIF1	Silent	SNP	ENST00000381362.4	37	CCDS42128.1																																																																																				0.567	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000436920.1	NM_016295	
DSG1	1828	hgsc.bcm.edu	37	18	28926138	28926138	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr18:28926138T>G	ENST00000257192.4	+	14	2289	c.2077T>G	c.(2077-2079)Ttc>Gtc	p.F693V	DSG1_ENST00000462981.2_Missense_Mutation_p.F52V|RP11-534N16.1_ENST00000581856.1_RNA|RNU6-167P_ENST00000384292.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	693					apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)	p.F693V(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GAATATGAATTTCATGGAAAG	0.413																																					p.F693V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2077G	18						.						94.0	96.0	96.0					18																	28926138		2203	4300	6503	27180136	SO:0001583	missense	1828	exon14			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.2077T>G	18.37:g.28926138T>G	ENSP00000257192:p.Phe693Val	Somatic		Capture	SOLID	Phase_I	27180136	NM_001942	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	T	14.56	2.570927	0.45798	.	.	ENSG00000134760	ENST00000257192	T	0.75821	-0.97	6.06	6.06	0.98353	Cadherin, cytoplasmic domain (1);	0.000000	0.64402	D	0.000001	D	0.83445	0.5256	L	0.60904	1.88	0.49582	D	0.999805	D	0.76494	0.999	D	0.72625	0.978	D	0.84824	0.0798	10	0.72032	D	0.01	.	14.3563	0.66740	0.0:0.0:0.0:1.0	.	693	Q02413	DSG1_HUMAN	V	693	ENSP00000257192:F693V	ENSP00000257192:F693V	F	+	1	0	DSG1	27180136	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.663000	0.61532	2.315000	0.78130	0.533000	0.62120	TTC		0.413	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942	
LSAMP	4045	hgsc.bcm.edu	37	3	115738438	115738438	+	Silent	SNP	G	G	T			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr3:115738438G>T	ENST00000490035.2	-	3	937	c.438C>A	c.(436-438)ggC>ggA	p.G146G	LSAMP_ENST00000539563.1_Silent_p.G143G|LSAMP_ENST00000498645.1_5'UTR	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	146	Ig-like C2-type 2.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.G146G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		TCACGTTGCTGCCCTCATTCA	0.468																																					p.G146G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C438A	3						.						172.0	132.0	145.0					3																	115738438		2203	4300	6503	117221128	SO:0001819	synonymous_variant	4045	exon3			U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.438C>A	3.37:g.115738438G>T		Somatic		Capture	SOLID	Phase_I	117221128	NM_002338	Q8IV49	Silent	SNP	ENST00000490035.2	37	CCDS2982.1																																																																																				0.468	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338	
ADIPOQ	9370	hgsc.bcm.edu	37	3	186570890	186570890	+	Missense_Mutation	SNP	G	G	T	rs537542748		TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr3:186570890G>T	ENST00000412955.2	+	2	184	c.43G>T	c.(43-45)Ggt>Tgt	p.G15C	ADIPOQ_ENST00000444204.2_Missense_Mutation_p.G15C|ADIPOQ-AS1_ENST00000422718.1_RNA|ADIPOQ_ENST00000320741.2_Missense_Mutation_p.G15C			Q15848	ADIPO_HUMAN	adiponectin, C1Q and collagen domain containing	15					adiponectin-activated signaling pathway (GO:0033211)|brown fat cell differentiation (GO:0050873)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to insulin stimulus (GO:0032869)|circadian rhythm (GO:0007623)|detection of oxidative stress (GO:0070994)|fatty acid beta-oxidation (GO:0006635)|fatty acid oxidation (GO:0019395)|generation of precursor metabolites and energy (GO:0006091)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|low-density lipoprotein particle clearance (GO:0034383)|membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell migration (GO:0030336)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of hormone secretion (GO:0046888)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of intracellular protein transport (GO:0090317)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metanephric mesenchymal cell migration (GO:2000590)|negative regulation of phagocytosis (GO:0050765)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of platelet-derived growth factor receptor-alpha signaling pathway (GO:2000584)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of receptor binding (GO:1900121)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of synaptic transmission (GO:0050805)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|positive regulation of blood pressure (GO:0045777)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of fatty acid metabolic process (GO:0045923)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of metanephric glomerular visceral epithelial cell development (GO:2000478)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myeloid cell apoptotic process (GO:0033034)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal albumin absorption (GO:2000534)|positive regulation of signal transduction (GO:0009967)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|regulation of glucose metabolic process (GO:0010906)|response to activity (GO:0014823)|response to ethanol (GO:0045471)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to linoleic acid (GO:0070543)|response to nutrient (GO:0007584)|response to sucrose (GO:0009744)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|collagen trimer (GO:0005581)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|sialic acid binding (GO:0033691)	p.G15C(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(2)	16	all_cancers(143;1.2e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.47e-19)	GBM - Glioblastoma multiforme(93;0.0776)		AGCTCTGCCCGGTCATGACCA	0.617																																					p.G15C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G43T	3						.						88.0	81.0	83.0					3																	186570890		2203	4300	6503	188053584	SO:0001583	missense	9370	exon2			D45371	CCDS3284.1	3q27	2013-02-26	2005-01-24	2005-01-27	ENSG00000181092	ENSG00000181092		"""Endogenous ligands"""	13633	protein-coding gene	gene with protein product	"""adipose most abundant gene transcript 1"", ""adiponectin precursor"""	605441	"""adipocyte, C1Q and collagen domain containing"""	ACDC		7592907, 8631877	Standard	NM_001177800		Approved	ACRP30, AdipoQ, apM1, GBP28, adiponectin	uc003fra.3	Q15848	OTTHUMG00000156521	ENST00000412955.2:c.43G>T	3.37:g.186570890G>T	ENSP00000405611:p.Gly15Cys	Somatic		Capture	SOLID	Phase_I	188053584	NM_004797	Q58EX9	Missense_Mutation	SNP	ENST00000412955.2	37	CCDS3284.1	.	.	.	.	.	.	.	.	.	.	G	10.06	1.245588	0.22796	.	.	ENSG00000181092	ENST00000412955;ENST00000320741;ENST00000444204	D;D;D	0.90732	-2.72;-2.72;-2.72	5.31	-0.782	0.10961	.	1.158660	0.06158	N	0.675367	T	0.78020	0.4218	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.64782	-0.6326	10	0.44086	T	0.13	.	3.4071	0.07344	0.5252:0.0:0.2782:0.1966	.	15	Q15848	ADIPO_HUMAN	C	15	ENSP00000405611:G15C;ENSP00000320709:G15C;ENSP00000389814:G15C	ENSP00000320709:G15C	G	+	1	0	ADIPOQ	188053584	0.000000	0.05858	0.008000	0.14137	0.023000	0.10783	-0.134000	0.10436	0.095000	0.17434	-0.294000	0.09567	GGT		0.617	ADIPOQ-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344490.2	NM_004797	
LRCH3	84859	hgsc.bcm.edu	37	3	197556512	197556512	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr3:197556512T>G	ENST00000425562.2	+	6	855	c.855T>G	c.(853-855)gaT>gaG	p.D285E	AC055764.1_ENST00000454526.1_RNA|LRCH3_ENST00000438796.2_Missense_Mutation_p.D285E|LRCH3_ENST00000334859.4_Missense_Mutation_p.D285E|LRCH3_ENST00000414675.2_Missense_Mutation_p.D285E|LRCH3_ENST00000536618.1_De_novo_Start_OutOfFrame|LRCH3_ENST00000441090.2_Missense_Mutation_p.D159E			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	285						cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.D285E(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		ATCTGCCGGATTATGATAGGA	0.338																																					p.D285E												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T855G	3						.						169.0	170.0	169.0					3																	197556512		2203	4300	6503	199040909	SO:0001583	missense	84859	exon6			AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.855T>G	3.37:g.197556512T>G	ENSP00000393579:p.Asp285Glu	Somatic		Capture	SOLID	Phase_I	199040909	NM_032773	B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37		.	.	.	.	.	.	.	.	.	.	T	10.24	1.294438	0.23564	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562	T;T;T;T;T	0.50001	2.15;0.76;2.15;2.4;2.17	5.44	4.23	0.50019	.	0.052747	0.64402	D	0.000001	T	0.44052	0.1275	L	0.59436	1.845	0.80722	D	1	B;B;B;B	0.26318	0.146;0.049;0.142;0.002	B;B;B;B	0.27262	0.036;0.04;0.078;0.008	T	0.42882	-0.9425	10	0.41790	T	0.15	-24.9476	11.795	0.52093	0.1312:0.0:0.0:0.8688	.	159;285;285;285	E9PD99;B4E0T7;Q96II8-2;Q96II8-3	.;.;.;.	E	285;159;285;285;285	ENSP00000399751:D285E;ENSP00000394609:D159E;ENSP00000394965:D285E;ENSP00000334375:D285E;ENSP00000393579:D285E	ENSP00000334375:D285E	D	+	3	2	LRCH3	199040909	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.723000	0.25939	2.071000	0.62044	0.529000	0.55759	GAT		0.338	LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773	
SOX5	6660	hgsc.bcm.edu	37	12	24048776	24048776	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr12:24048776G>A	ENST00000451604.2	-	2	322	c.221C>T	c.(220-222)aCg>aTg	p.T74M	SOX5_ENST00000537393.1_Intron|SOX5_ENST00000309359.1_Missense_Mutation_p.T61M|SOX5_ENST00000545921.1_Missense_Mutation_p.T64M|SOX5_ENST00000441133.2_Intron|SOX5_ENST00000381381.2_Missense_Mutation_p.T61M|SOX5_ENST00000541847.1_Missense_Mutation_p.T64M|SOX5_ENST00000541536.1_Missense_Mutation_p.T61M|SOX5_ENST00000546136.1_Missense_Mutation_p.T61M			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	74					cartilage development (GO:0051216)|cell fate commitment (GO:0045165)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system neuron differentiation (GO:0021953)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|oligodendrocyte differentiation (GO:0048709)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of timing of neuron differentiation (GO:0060164)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear transcription factor complex (GO:0044798)	sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.T74M(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						AGTCTCTTGCGTCAGCAGAGA	0.488																																					p.T61M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C182T	12						.						227.0	219.0	222.0					12																	24048776		2203	4300	6503	23940043	SO:0001583	missense	6660	exon5			AB081589	CCDS8699.1, CCDS41761.1, CCDS44844.1, CCDS58216.1, CCDS58217.1	12p12.1	2010-04-20			ENSG00000134532	ENSG00000134532		"""SRY (sex determining region Y)-boxes"""	11201	protein-coding gene	gene with protein product		604975				8812465	Standard	NM_006940		Approved	L-SOX5, MGC35153	uc001rfw.3	P35711	OTTHUMG00000169026	ENST00000451604.2:c.221C>T	12.37:g.24048776G>A	ENSP00000398273:p.Thr74Met	Somatic		Capture	SOLID	Phase_I	23940043	NM_152989	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	ENST00000451604.2	37	CCDS8699.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.668315	0.67814	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000381381;ENST00000451604;ENST00000541536;ENST00000545921;ENST00000541847;ENST00000538083	D;D;D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19;-4.19;-4.19	5.79	5.79	0.91817	.	0.076761	0.52532	D	0.000067	D	0.96632	0.8901	L	0.27053	0.805	0.46458	D	0.999059	D;B	0.89917	1.0;0.342	D;B	0.70227	0.968;0.112	D	0.97075	0.9780	10	0.56958	D	0.05	.	20.0349	0.97554	0.0:0.0:1.0:0.0	.	61;74	P35711-4;P35711	.;SOX5_HUMAN	M	61;61;61;74;61;64;64;61	ENSP00000437487:T61M;ENSP00000308927:T61M;ENSP00000370788:T61M;ENSP00000398273:T74M;ENSP00000441973:T61M;ENSP00000443520:T64M	ENSP00000308927:T61M	T	-	2	0	SOX5	23940043	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.269000	0.58890	2.744000	0.94065	0.650000	0.86243	ACG		0.488	SOX5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402006.2	NM_006940	
KRAS	3845	hgsc.bcm.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.G12V	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	KRAS,haematopoietic_and_lymphoid_tissue,NS,Substitution - Missense,0	.	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	c.G35T	12						.						91.0	81.0	85.0					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	3845	exon2	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	Somatic		Capture	SOLID	Phase_I	25289551	NM_004985	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
SCAF11	9169	hgsc.bcm.edu	37	12	46318783	46318783	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr12:46318783T>C	ENST00000369367.3	-	12	3867	c.3634A>G	c.(3634-3636)Atg>Gtg	p.M1212V	SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000419565.2_Missense_Mutation_p.M1212V|SCAF11_ENST00000549162.1_Missense_Mutation_p.M1020V|SCAF11_ENST00000465950.1_Missense_Mutation_p.M897V	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1212					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.M1212V(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						ATTACATTCATTTGCGGTTGC	0.388																																					p.M1212V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3634G	12						.						208.0	185.0	193.0					12																	46318783		2203	4300	6503	44605050	SO:0001583	missense	9169	exon12			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3634A>G	12.37:g.46318783T>C	ENSP00000358374:p.Met1212Val	Somatic		Capture	SOLID	Phase_I	44605050	NM_004719	A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	ENST00000369367.3	37	CCDS8748.2	.	.	.	.	.	.	.	.	.	.	T	11.72	1.722235	0.30503	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.01	1.18	0.20946	.	0.149748	0.47093	N	0.000245	T	0.31263	0.0791	L	0.50333	1.59	0.31244	N	0.694794	B	0.11235	0.004	B	0.09377	0.004	T	0.19128	-1.0315	10	0.54805	T	0.06	-3.6876	4.8126	0.13351	0.0:0.2431:0.1488:0.6081	.	1212	Q99590	SCAFB_HUMAN	V	897;1212;1020;1212	ENSP00000449812:M897V;ENSP00000358374:M1212V;ENSP00000448864:M1020V;ENSP00000413036:M1212V	ENSP00000358374:M1212V	M	-	1	0	SCAF11	44605050	0.821000	0.29204	0.644000	0.29465	0.962000	0.63368	0.465000	0.22004	0.017000	0.15025	0.383000	0.25322	ATG		0.388	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313992.2	NM_004719	
SLC17A8	246213	hgsc.bcm.edu	37	12	100784863	100784863	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr12:100784863G>C	ENST00000323346.5	+	3	752	c.439G>C	c.(439-441)Ggt>Cgt	p.G147R	SLC17A8_ENST00000392989.3_Missense_Mutation_p.G147R	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	147					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.G147R(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						ACAAATTCCAGGTGGTTTCAT	0.368																																					p.G147R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G439C	12						.						114.0	115.0	115.0					12																	100784863		2203	4300	6503	99308994	SO:0001583	missense	246213	exon3			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.439G>C	12.37:g.100784863G>C	ENSP00000316909:p.Gly147Arg	Somatic		Capture	SOLID	Phase_I	99308994	NM_139319	B3KXZ6|B7ZKV4|Q17RQ8	Missense_Mutation	SNP	ENST00000323346.5	37	CCDS9077.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705900	0.89018	.	.	ENSG00000179520	ENST00000323346;ENST00000392989	T;T	0.59224	0.28;0.28	5.24	5.24	0.73138	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.85813	0.5784	H	0.97918	4.105	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.91094	0.4909	10	0.87932	D	0	.	19.2121	0.93760	0.0:0.0:1.0:0.0	.	147;147	Q8NDX2;Q8NDX2-2	VGLU3_HUMAN;.	R	147	ENSP00000316909:G147R;ENSP00000376715:G147R	ENSP00000316909:G147R	G	+	1	0	SLC17A8	99308994	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.233000	0.95337	2.610000	0.88304	0.655000	0.94253	GGT		0.368	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408673.2	NM_139319	
ATP6V0A2	23545	hgsc.bcm.edu	37	12	124236846	124236846	+	Missense_Mutation	SNP	T	T	C	rs144946016	byFrequency	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr12:124236846T>C	ENST00000330342.3	+	17	2320	c.2072T>C	c.(2071-2073)aTa>aCa	p.I691T	ATP6V0A2_ENST00000544833.1_5'Flank	NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	691					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)	p.I691T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TACACACTTATAAGGAAAGAT	0.408													T|||	3	0.000599042	0.0	0.0	5008	,	,		17285	0.003		0.0	False		,,,				2504	0.0				p.I691T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2072C	12						.						106.0	103.0	104.0					12																	124236846		2203	4300	6503	122802799	SO:0001583	missense	23545	exon17			AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.2072T>C	12.37:g.124236846T>C	ENSP00000332247:p.Ile691Thr	Somatic		Capture	SOLID	Phase_I	122802799	NM_012463	A8K026|Q6NUM0	Missense_Mutation	SNP	ENST00000330342.3	37	CCDS9254.1	3	0.0013736263736263737	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	T	5.413	0.261434	0.10239	.	.	ENSG00000185344	ENST00000330342	D	0.84370	-1.84	5.75	5.75	0.90469	.	0.376195	0.29225	N	0.012761	T	0.68449	0.3002	N	0.17312	0.475	0.80722	D	1	B	0.02656	0.0	B	0.16722	0.016	T	0.67620	-0.5624	10	0.14252	T	0.57	-16.2518	15.7296	0.77790	0.0:0.0:0.0:1.0	.	691	Q9Y487	VPP2_HUMAN	T	691	ENSP00000332247:I691T	ENSP00000332247:I691T	I	+	2	0	ATP6V0A2	122802799	0.853000	0.29707	0.014000	0.15608	0.407000	0.30961	6.570000	0.73996	2.188000	0.69820	0.528000	0.53228	ATA		0.408	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463	
WDFY3	23001	hgsc.bcm.edu	37	4	85707194	85707194	+	Silent	SNP	G	G	A			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr4:85707194G>A	ENST00000295888.4	-	24	4407	c.4000C>T	c.(4000-4002)Cta>Tta	p.L1334L	WDFY3_ENST00000322366.6_Silent_p.L1334L	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1334					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)	p.L1334L(1)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCCACTGTTAGAGACGACACA	0.448																																					p.L1334L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4000T	4						.						172.0	148.0	156.0					4																	85707194		2203	4300	6503	85926218	SO:0001819	synonymous_variant	23001	exon24			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.4000C>T	4.37:g.85707194G>A		Somatic		Capture	SOLID	Phase_I	85926218	NM_014991	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Silent	SNP	ENST00000295888.4	37	CCDS3609.1																																																																																				0.448	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
KLHL2	11275	hgsc.bcm.edu	37	4	166231807	166231807	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr4:166231807C>G	ENST00000226725.6	+	10	1401	c.1142C>G	c.(1141-1143)aCc>aGc	p.T381S	KLHL2_ENST00000421009.2_Missense_Mutation_p.T284S|KLHL2_ENST00000506761.1_Missense_Mutation_p.T215S|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000538127.1_Missense_Mutation_p.T293S|KLHL2_ENST00000514860.1_Missense_Mutation_p.T385S	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	381					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)	p.T381S(1)		endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GACCAGTGGACCAGCGTTGCT	0.473																																					p.T385S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1154G	4						.						357.0	357.0	357.0					4																	166231807		2203	4300	6503	166451257	SO:0001583	missense	11275	exon10			AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.1142C>G	4.37:g.166231807C>G	ENSP00000226725:p.Thr381Ser	Somatic		Capture	SOLID	Phase_I	166451257	NM_001161521	A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	ENST00000226725.6	37	CCDS34094.1	.	.	.	.	.	.	.	.	.	.	C	5.397	0.258443	0.10239	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11	5.6	5.6	0.85130	Galactose oxidase, beta-propeller (1);	0.153645	0.64402	D	0.000019	T	0.64170	0.2574	N	0.16708	0.43	0.44685	D	0.997678	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.60652	-0.7221	10	0.08179	T	0.78	.	19.6215	0.95658	0.0:1.0:0.0:0.0	.	385;381;381	B4DFH7;B2RD18;O95198	.;.;KLHL2_HUMAN	S	381;385;293;284;215	ENSP00000226725:T381S;ENSP00000424198:T385S;ENSP00000437526:T293S;ENSP00000408974:T284S;ENSP00000424108:T215S	ENSP00000226725:T381S	T	+	2	0	KLHL2	166451257	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.001000	0.40825	2.625000	0.88918	0.650000	0.86243	ACC		0.473	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1		
P2RY10	27334	hgsc.bcm.edu	37	X	78216745	78216745	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chrX:78216745G>A	ENST00000171757.2	+	4	1008	c.728G>A	c.(727-729)cGg>cAg	p.R243Q	P2RY10_ENST00000544091.1_Missense_Mutation_p.R243Q	NM_014499.2	NP_055314.1	O00398	P2Y10_HUMAN	purinergic receptor P2Y, G-protein coupled, 10	243						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)	p.R243Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						AAAGCACTGCGGATGGTGTTC	0.438																																					p.R243Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G728A	X						.						129.0	116.0	120.0					X																	78216745		2203	4300	6503	78103401	SO:0001583	missense	27334	exon2			AF000545	CCDS14442.1	Xq21.1	2012-08-23			ENSG00000078589	ENSG00000078589		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	19906	protein-coding gene	gene with protein product		300529				11004484, 9755289	Standard	NM_014499		Approved	P2Y10	uc004edf.3	O00398	OTTHUMG00000021896	ENST00000171757.2:c.728G>A	X.37:g.78216745G>A	ENSP00000171757:p.Arg243Gln	Somatic		Capture	SOLID	Phase_I	78103401	NM_198333	D3DTE5|Q4VBN7|Q86V16	Missense_Mutation	SNP	ENST00000171757.2	37	CCDS14442.1	.	.	.	.	.	.	.	.	.	.	G	16.93	3.258931	0.59321	.	.	ENSG00000078589	ENST00000544091;ENST00000171757	T;T	0.39592	1.07;1.07	4.82	4.82	0.62117	GPCR, rhodopsin-like superfamily (1);	0.064996	0.56097	D	0.000022	T	0.60287	0.2257	L	0.61218	1.895	0.35855	D	0.827056	D	0.67145	0.996	D	0.68039	0.955	T	0.70099	-0.4965	10	0.54805	T	0.06	.	15.5411	0.76048	0.0:0.0:1.0:0.0	.	243	O00398	P2Y10_HUMAN	Q	243	ENSP00000443138:R243Q;ENSP00000171757:R243Q	ENSP00000171757:R243Q	R	+	2	0	P2RY10	78103401	1.000000	0.71417	0.217000	0.23759	0.806000	0.45545	5.200000	0.65158	2.231000	0.72958	0.540000	0.68198	CGG		0.438	P2RY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057323.1		
PLA2R1	22925	hgsc.bcm.edu	37	2	160879352	160879352	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr2:160879352T>A	ENST00000283243.7	-	7	1324	c.1118A>T	c.(1117-1119)tAt>tTt	p.Y373F	PLA2R1_ENST00000392771.1_Missense_Mutation_p.Y373F	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	373					cytokine production (GO:0001816)|negative regulation of arachidonic acid secretion (GO:1900139)|negative regulation of phospholipase A2 activity (GO:1900138)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|reactive oxygen species metabolic process (GO:0072593)|receptor-mediated endocytosis (GO:0006898)|replicative senescence (GO:0090399)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)|phospholipase binding (GO:0043274)|receptor activity (GO:0004872)	p.Y373F(1)	PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GGTAGCATAATATTTCCACGC	0.353																																					p.Y373F												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1118T	2						.						106.0	107.0	107.0					2																	160879352		2203	4300	6503	160587598	SO:0001583	missense	22925	exon7			U17033	CCDS33309.1, CCDS42767.1	2q23-q24	2011-08-30	2002-08-29		ENSG00000153246	ENSG00000153246		"""C-type lectin domain containing"""	9042	protein-coding gene	gene with protein product		604939	"""phospholipase A2 receptor 1, 180kD"""			7721806, 7925459	Standard	NM_007366		Approved	PLA2G1R, PLA2IR, PLA2-R, CLEC13C	uc002ube.2	Q13018	OTTHUMG00000154087	ENST00000283243.7:c.1118A>T	2.37:g.160879352T>A	ENSP00000283243:p.Tyr373Phe	Somatic		Capture	SOLID	Phase_I	160587598	NM_007366	B2RTU9|D3DPB1|Q13019|Q15095|Q53R45|Q53RR7	Missense_Mutation	SNP	ENST00000283243.7	37	CCDS33309.1	.	.	.	.	.	.	.	.	.	.	T	15.53	2.861311	0.51482	.	.	ENSG00000153246	ENST00000283243;ENST00000392771	T;T	0.07444	3.24;3.19	5.49	5.49	0.81192	C-type lectin-like (1);	0.000000	0.85682	D	0.000000	T	0.11879	0.0289	M	0.76002	2.32	0.49687	D	0.999815	B;P;P	0.38729	0.343;0.644;0.453	B;B;B	0.39068	0.289;0.248;0.112	T	0.09292	-1.0681	10	0.12430	T	0.62	.	11.0869	0.48093	0.1387:0.0:0.0:0.8613	.	373;373;373	B7ZML4;Q13018-2;Q13018	.;.;PLA2R_HUMAN	F	373	ENSP00000283243:Y373F;ENSP00000376524:Y373F	ENSP00000283243:Y373F	Y	-	2	0	PLA2R1	160587598	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	3.665000	0.54532	2.095000	0.63458	0.533000	0.62120	TAT		0.353	PLA2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333820.1		
TTN	7273	hgsc.bcm.edu	37	2	179631175	179631175	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr2:179631175C>A	ENST00000591111.1	-	41	9860	c.9636G>T	c.(9634-9636)caG>caT	p.Q3212H	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.Q3212H|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q3166H|TTN_ENST00000460472.2_Missense_Mutation_p.Q3166H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q3166H|TTN_ENST00000589042.1_Missense_Mutation_p.Q3212H|TTN_ENST00000342992.6_Missense_Mutation_p.Q3212H			Q8WZ42	TITIN_HUMAN	titin	13542					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Q3166H(3)|p.Q3212H(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCATCGCTCTGTCTGGTCT	0.413																																					p.Q3212H												.	.	5	Substitution - Missense(5)	large_intestine(5)	c.G9636T	2						.						164.0	156.0	159.0					2																	179631175		2203	4300	6503	179339420	SO:0001583	missense	7273	exon41			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9636G>T	2.37:g.179631175C>A	ENSP00000465570:p.Gln3212His	Somatic		Capture	SOLID	Phase_I	179339420	NM_133379	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	9.962	1.223075	0.22457	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.04758	3.56;3.56;3.56;3.56;3.56	5.62	-8.31	0.01001	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.03263	0.0095	L	0.31926	0.97	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.48352	-0.9043	9	0.87932	D	0	.	5.2201	0.15364	0.2061:0.2453:0.45:0.0985	.	3166;3166;3166;3212;3212	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	3212;3166;3166;3166;3166;3212	ENSP00000343764:Q3212H;ENSP00000434586:Q3166H;ENSP00000340554:Q3166H;ENSP00000352154:Q3166H;ENSP00000354117:Q3212H	ENSP00000340554:Q3166H	Q	-	3	2	TTN	179339420	0.000000	0.05858	0.155000	0.22561	0.753000	0.42808	-1.677000	0.01944	-1.123000	0.02940	-0.467000	0.05162	CAG		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
COL5A1	1289	hgsc.bcm.edu	37	9	137582839	137582839	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr9:137582839C>T	ENST00000371817.3	+	2	605	c.191C>T	c.(190-192)aCg>aTg	p.T64M	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	64					axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.T64M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTTTGCGCCACGCGGCGATCT	0.542																																					p.T64M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C191T	9						.						70.0	66.0	67.0					9																	137582839		2203	4300	6503	136722660	SO:0001583	missense	1289	exon2			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.191C>T	9.37:g.137582839C>T	ENSP00000360882:p.Thr64Met	Somatic		Capture	SOLID	Phase_I	136722660	NM_000093	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	2.548	-0.304737	0.05495	.	.	ENSG00000130635	ENST00000371817	T	0.42900	0.96	4.68	0.437	0.16555	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.316379	0.28630	U	0.014667	T	0.16171	0.0389	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.08126	-1.0737	10	0.37606	T	0.19	.	0.7327	0.00959	0.2261:0.3189:0.2541:0.201	.	64	P20908	CO5A1_HUMAN	M	64	ENSP00000360882:T64M	ENSP00000360882:T64M	T	+	2	0	COL5A1	136722660	0.033000	0.19621	0.000000	0.03702	0.000000	0.00434	2.274000	0.43390	0.069000	0.16605	-1.858000	0.00562	ACG		0.542	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
SLC10A2	6555	hgsc.bcm.edu	37	13	103703765	103703765	+	Silent	SNP	G	G	A	rs144379807		TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr13:103703765G>A	ENST00000245312.3	-	4	1199	c.603C>T	c.(601-603)ggC>ggT	p.G201G		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	201					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)	p.G201G(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	TGAGGATGGCGCCCGCGATGG	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		17680	0.0		0.001	False		,,,				2504	0.0				p.G201G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C603T	13						.	G		1,4405	2.1+/-5.4	0,1,2202	57.0	57.0	57.0		603	-11.1	0.0	13	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC10A2	NM_000452.2		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		201/349	103703765	2,13004	2203	4300	6503	102501766	SO:0001819	synonymous_variant	6555	exon4			U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.603C>T	13.37:g.103703765G>A		Somatic		Capture	SOLID	Phase_I	102501766	NM_000452	A1L4F4|Q13839	Silent	SNP	ENST00000245312.3	37	CCDS9506.1																																																																																				0.438	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1		
ZC3H13	23091	hgsc.bcm.edu	37	13	46616330	46616330	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr13:46616330C>T	ENST00000242848.4	-	4	656	c.308G>A	c.(307-309)cGa>cAa	p.R103Q	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R103Q			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	103							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R103Q(2)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTCTGTATTTCGTTTCTGGGG	0.403																																					p.R103Q	Esophageal Squamous(187;747 2077 11056 31291 44172)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G308A	13						.						195.0	177.0	183.0					13																	46616330		2203	4300	6503	45514331	SO:0001583	missense	23091	exon4			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.308G>A	13.37:g.46616330C>T	ENSP00000242848:p.Arg103Gln	Somatic		Capture	SOLID	Phase_I	45514331	NM_015070	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37		.	.	.	.	.	.	.	.	.	.	C	16.91	3.252122	0.59212	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000428921	T;T	0.33865	2.39;1.39	5.43	5.43	0.79202	.	0.000000	0.47455	D	0.000236	T	0.35480	0.0933	N	0.17082	0.46	0.80722	D	1	D;D	0.67145	0.993;0.996	P;P	0.56398	0.632;0.797	T	0.05162	-1.0902	10	0.24483	T	0.36	.	13.5327	0.61631	0.0:0.9253:0.0:0.0746	.	103;103	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	Q	103	ENSP00000242848:R103Q;ENSP00000282007:R103Q	ENSP00000242848:R103Q	R	-	2	0	ZC3H13	45514331	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.399000	0.66314	2.557000	0.86248	0.467000	0.42956	CGA		0.403	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070	
SOX21	11166	hgsc.bcm.edu	37	13	95364140	95364140	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr13:95364140C>T	ENST00000376945.2	-	1	249	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	SOX21-AS1_ENST00000438290.2_lincRNA	NM_007084.2	NP_009015.1	Q9Y651	SOX21_HUMAN	SRY (sex determining region Y)-box 21	55					hair follicle development (GO:0001942)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R55Q(1)		large_intestine(3)|lung(1)|prostate(1)|skin(1)	6	all_neural(89;0.0646)|Medulloblastoma(90;0.163)					GATGAACGGCCGCTTCTCCGA	0.627																																					p.R55Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G164A	13						.						96.0	92.0	94.0					13																	95364140		2203	4300	6503	94162141	SO:0001583	missense	11166	exon1			AF107044	CCDS9473.1	13q31-q32	2008-07-18			ENSG00000125285	ENSG00000125285		"""SRY (sex determining region Y)-boxes"""	11197	protein-coding gene	gene with protein product	"""SRY-box 21"""	604974				10441749	Standard	NM_007084		Approved	SOX25	uc001vma.3	Q9Y651	OTTHUMG00000017209	ENST00000376945.2:c.164G>A	13.37:g.95364140C>T	ENSP00000366144:p.Arg55Gln	Somatic		Capture	SOLID	Phase_I	94162141	NM_007084	P35715|Q15504|Q5TBS1	Missense_Mutation	SNP	ENST00000376945.2	37	CCDS9473.1	.	.	.	.	.	.	.	.	.	.	c	13.44	2.237818	0.39598	.	.	ENSG00000125285	ENST00000376945	D	0.97850	-4.57	3.16	2.3	0.28687	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	U	0.000002	D	0.92469	0.7609	N	0.16233	0.39	0.58432	D	0.999997	P	0.47302	0.893	B	0.37780	0.258	D	0.90048	0.4147	10	0.87932	D	0	.	9.8973	0.41327	0.0:0.8929:0.0:0.1071	.	55	Q9Y651	SOX21_HUMAN	Q	55	ENSP00000366144:R55Q	ENSP00000366144:R55Q	R	-	2	0	SOX21	94162141	1.000000	0.71417	1.000000	0.80357	0.066000	0.16364	7.246000	0.78247	0.423000	0.26033	-0.348000	0.07805	CGG		0.627	SOX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045467.4	NM_007084	
ING1	3621	hgsc.bcm.edu	37	13	111372139	111372139	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr13:111372139G>A	ENST00000375774.3	+	2	1591	c.1129G>A	c.(1129-1131)Gag>Aag	p.E377K	ING1_ENST00000333219.7_Missense_Mutation_p.E234K|ING1_ENST00000338450.7_Missense_Mutation_p.E190K|ING1_ENST00000375775.3_Missense_Mutation_p.E165K	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	377					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.E234K(1)		endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GTGCCCCATCGAGTGGTTCCA	0.587																																					p.E234K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G700A	13						.						81.0	71.0	75.0					13																	111372139		2203	4300	6503	110170140	SO:0001583	missense	3621	exon2				CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.1129G>A	13.37:g.111372139G>A	ENSP00000364929:p.Glu377Lys	Somatic		Capture	SOLID	Phase_I	110170140	NM_198219	O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	ENST00000375774.3	37	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	G	34	5.390222	0.95988	.	.	ENSG00000153487	ENST00000338450;ENST00000333219;ENST00000375775;ENST00000375774	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.5	5.5	0.81552	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	T	0.76898	0.4052	M	0.91459	3.21	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.87578	0.998;0.995;0.98	T	0.82206	-0.0572	10	0.87932	D	0	-55.8982	19.3838	0.94548	0.0:0.0:1.0:0.0	.	377;234;190	Q9UK53;Q5T9H0;Q9UK53-4	ING1_HUMAN;.;.	K	190;234;165;377	ENSP00000345202:E190K;ENSP00000328436:E234K;ENSP00000364930:E165K;ENSP00000364929:E377K	ENSP00000328436:E234K	E	+	1	0	ING1	110170140	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	9.224000	0.95209	2.586000	0.87340	0.491000	0.48974	GAG		0.587	ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537	
SLCO4C1	353189	hgsc.bcm.edu	37	5	101593008	101593008	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr5:101593008A>G	ENST00000310954.6	-	8	1566	c.1280T>C	c.(1279-1281)gTt>gCt	p.V427A		NM_180991.4	NP_851322.3			solute carrier organic anion transporter family, member 4C1									p.V427A(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AGGAATTAAAACAGCCCCTAA	0.353																																					p.V427A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1280C	5						.						47.0	49.0	48.0					5																	101593008		2203	4300	6503	101620907	SO:0001583	missense	353189	exon8			AY273896	CCDS34205.1	5q21	2013-05-22	2003-11-25		ENSG00000173930	ENSG00000173930		"""Solute carriers"""	23612	protein-coding gene	gene with protein product		609013					Standard	NM_180991		Approved	SLC21A20, OATP4C1, OATPX, OATP-H	uc003knm.3	Q6ZQN7	OTTHUMG00000162757	ENST00000310954.6:c.1280T>C	5.37:g.101593008A>G	ENSP00000309741:p.Val427Ala	Somatic		Capture	SOLID	Phase_I	101620907	NM_180991		Missense_Mutation	SNP	ENST00000310954.6	37	CCDS34205.1	.	.	.	.	.	.	.	.	.	.	A	19.17	3.775872	0.70107	.	.	ENSG00000173930	ENST00000310954	T	0.48836	0.8	5.78	4.62	0.57501	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.183995	0.36591	N	0.002517	T	0.50820	0.1638	M	0.67700	2.07	0.33680	D	0.612056	B	0.29188	0.236	B	0.37091	0.241	T	0.63323	-0.6663	10	0.54805	T	0.06	.	11.6801	0.51453	0.9308:0.0:0.0692:0.0	.	427	Q6ZQN7	SO4C1_HUMAN	A	427	ENSP00000309741:V427A	ENSP00000309741:V427A	V	-	2	0	SLCO4C1	101620907	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.881000	0.56152	1.018000	0.39521	0.477000	0.44152	GTT		0.353	SLCO4C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370332.1	NM_180991	
APC	324	hgsc.bcm.edu	37	5	112173825	112173825	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr5:112173825G>A	ENST00000457016.1	+	16	2914	c.2534G>A	c.(2533-2535)cGt>cAt	p.R845H	APC_ENST00000508376.2_Missense_Mutation_p.R845H|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.R845H			P25054	APC_HUMAN	adenomatous polyposis coli	845	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.R845H(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GATAGTTCTCGTTCTGAAAAA	0.413		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)																											p.R827H	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	.	2	Substitution - Missense(1)|Unknown(1)	large_intestine(1)|skin(1)	c.G2480A	5						.						59.0	61.0	60.0					5																	112173825		2202	4300	6502	112201724	SO:0001583	missense	324	exon14	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.2534G>A	5.37:g.112173825G>A	ENSP00000413133:p.Arg845His	Somatic		Capture	SOLID	Phase_I	112201724	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	16.81	3.225084	0.58668	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.93763	-2.56;-3.28;-2.56;-2.56;-2.73	6.16	6.16	0.99307	.	0.068137	0.64402	D	0.000014	D	0.94132	0.8118	L	0.51422	1.61	0.53688	D	0.999975	D;D	0.67145	0.996;0.992	P;P	0.54100	0.742;0.65	D	0.93883	0.7173	10	0.59425	D	0.04	-15.0499	17.0764	0.86587	0.0:0.0:0.8727:0.1273	.	847;845	Q4LE70;P25054	.;APC_HUMAN	H	845;827;845;845;845	ENSP00000413133:R845H;ENSP00000423224:R827H;ENSP00000257430:R845H;ENSP00000427089:R845H;ENSP00000423828:R845H	ENSP00000257430:R845H	R	+	2	0	APC	112201724	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.007000	0.70731	2.937000	0.99478	0.650000	0.86243	CGT		0.413	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
RAPGEF6	51735	hgsc.bcm.edu	37	5	130782268	130782268	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr5:130782268T>C	ENST00000509018.1	-	22	3534	c.3329A>G	c.(3328-3330)aAg>aGg	p.K1110R	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.K1123R|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.K1160R|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.K833R|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.K1118R|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.K1110R|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.K1118R	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1110					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)	p.K1160R(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CTGCTTCACCTTCCTTGCCAT	0.483																																					p.K1123R	Melanoma(168;435 1955 13113 13877 23213)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3368G	5						.						224.0	201.0	209.0					5																	130782268		2203	4300	6503	130810167	SO:0001583	missense	51735	exon24			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.3329A>G	5.37:g.130782268T>C	ENSP00000421684:p.Lys1110Arg	Somatic		Capture	SOLID	Phase_I	130810167	NM_001164387	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	T	14.90	2.672781	0.47781	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000512052;ENST00000308008;ENST00000514667	T;T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54;1.54	5.72	5.72	0.89469	Guanine-nucleotide dissociation stimulator CDC25 (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.25457	0.0619	L	0.32530	0.975	0.80722	D	1	B;P;B;B;P;B;P	0.40250	0.219;0.468;0.262;0.023;0.709;0.069;0.538	B;B;B;B;B;B;B	0.38842	0.13;0.147;0.283;0.034;0.217;0.175;0.217	T	0.03086	-1.1074	10	0.19590	T	0.45	.	16.0054	0.80359	0.0:0.0:0.0:1.0	.	1118;1118;1110;833;1160;1123;1110	A3KN82;B7ZML2;Q8TEU7-2;D6RE77;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;.;RPGF6_HUMAN	R	1110;1123;1118;1118;1123;833;1110;1160	ENSP00000421684:K1110R;ENSP00000309298:K1123R;ENSP00000426081:K1118R;ENSP00000296859:K1118R;ENSP00000426910:K833R;ENSP00000311419:K1110R;ENSP00000426948:K1160R	ENSP00000426948:K1160R	K	-	2	0	RAPGEF6;FNIP1	130810167	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	7.993000	0.88291	2.185000	0.69588	0.454000	0.30748	AAG		0.483	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1	NM_016340	
CTNNA1	1495	hgsc.bcm.edu	37	5	138260304	138260304	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr5:138260304G>A	ENST00000302763.7	+	12	1742	c.1652G>A	c.(1651-1653)cGg>cAg	p.R551Q	CTNNA1_ENST00000518825.1_Missense_Mutation_p.R551Q|CTNNA1_ENST00000540387.1_Missense_Mutation_p.R181Q|CTNNA1_ENST00000355078.5_Missense_Mutation_p.R448Q	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	551					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)	p.R551Q(1)		NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CGGGCAGCCCGGGTCATTCAC	0.527																																					p.R551Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1652A	5						.						53.0	48.0	50.0					5																	138260304		2203	4300	6503	138288203	SO:0001583	missense	1495	exon12			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1652G>A	5.37:g.138260304G>A	ENSP00000304669:p.Arg551Gln	Somatic		Capture	SOLID	Phase_I	138288203	NM_001903	Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	37	6.066066	0.97251	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387	T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.81828	0.4905	M	0.84326	2.69	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.81914	0.985;0.995;0.988	T	0.83060	-0.0148	10	0.66056	D	0.02	-14.4401	19.7203	0.96139	0.0:0.0:1.0:0.0	.	551;428;551	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	Q	448;551;551;536;551;181	ENSP00000347190:R448Q;ENSP00000304669:R551Q;ENSP00000427821:R551Q;ENSP00000438476:R181Q	ENSP00000304669:R551Q	R	+	2	0	CTNNA1	138288203	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.832000	0.97577	0.655000	0.94253	CGG		0.527	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903	
PCDHB7	56129	hgsc.bcm.edu	37	5	140552435	140552435	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr5:140552435C>A	ENST00000231137.3	+	1	193	c.19C>A	c.(19-21)Cgt>Agt	p.R7S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	7					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R7S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGAGTGGAGCGTGCTGTGCA	0.498																																					p.R7S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C19A	5						.						172.0	145.0	154.0					5																	140552435		2203	4300	6503	140532619	SO:0001583	missense	56129	exon1			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.19C>A	5.37:g.140552435C>A	ENSP00000231137:p.Arg7Ser	Somatic		Capture	SOLID	Phase_I	140532619	NM_018940	A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	C	6.752	0.507554	0.12883	.	.	ENSG00000113212	ENST00000231137	T	0.50548	0.74	3.91	-2.78	0.05859	.	.	.	.	.	T	0.21509	0.0518	N	0.12569	0.235	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.13202	-1.0518	9	0.32370	T	0.25	.	1.323	0.02120	0.132:0.2106:0.2605:0.3968	.	7	Q9Y5E2	PCDB7_HUMAN	S	7	ENSP00000231137:R7S	ENSP00000231137:R7S	R	+	1	0	PCDHB7	140532619	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.564000	0.05936	-0.625000	0.05604	-0.917000	0.02746	CGT		0.498	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940	
ZFP2	80108	hgsc.bcm.edu	37	5	178358338	178358338	+	Silent	SNP	T	T	C			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr5:178358338T>C	ENST00000361362.2	+	5	554	c.24T>C	c.(22-24)caT>caC	p.H8H	ZFP2_ENST00000523286.1_Silent_p.H8H|ZFP2_ENST00000520301.1_Silent_p.H8H|ZFP2_ENST00000503510.2_Silent_p.H8H	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	8					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H8H(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GTATCTGGCATTCTACTCTAG	0.463																																					p.H8H												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T24C	5						.						81.0	80.0	80.0					5																	178358338		2203	4300	6503	178290944	SO:0001819	synonymous_variant	80108	exon5			AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.24T>C	5.37:g.178358338T>C		Somatic		Capture	SOLID	Phase_I	178290944	NM_030613	A5PLN5|B7ZM23|Q9H6Z6	Silent	SNP	ENST00000361362.2	37	CCDS4440.1																																																																																				0.463	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	NM_030613	
IL7R	3575	hgsc.bcm.edu	37	5	35876370	35876370	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr5:35876370C>G	ENST00000303115.3	+	8	1291	c.1162C>G	c.(1162-1164)Cta>Gta	p.L388V	IL7R_ENST00000343305.4_3'UTR	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	388					B cell proliferation (GO:0042100)|cell growth (GO:0016049)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|homeostasis of number of cells (GO:0048872)|immune response (GO:0006955)|immunoglobulin production (GO:0002377)|interleukin-7-mediated signaling pathway (GO:0038111)|lymph node development (GO:0048535)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of gene expression (GO:0010628)|positive regulation of T cell differentiation in thymus (GO:0033089)|regulation of cell size (GO:0008361)|regulation of DNA recombination (GO:0000018)|signal transduction (GO:0007165)|T cell differentiation (GO:0030217)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|interleukin-7 receptor activity (GO:0004917)	p.L388V(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TTCCAGGTCCCTAGACTGCAG	0.537			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency																														p.L388V			Dom	yes		5	5p13	146661	interleukin 7 receptor	yes	L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1162G	5						.						93.0	84.0	87.0					5																	35876370		2203	4300	6503	35912127	SO:0001583	missense	3575	exon8			M29696	CCDS3911.1	5p13	2014-09-17			ENSG00000168685	ENSG00000168685		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6024	protein-coding gene	gene with protein product		146661				2317865	Standard	NM_002185		Approved	CD127	uc003jjs.4	P16871	OTTHUMG00000090791	ENST00000303115.3:c.1162C>G	5.37:g.35876370C>G	ENSP00000306157:p.Leu388Val	Somatic		Capture	SOLID	Phase_I	35912127	NM_002185	B2RCS6|B4DVT1|Q05CU8|Q6NSP4|Q6NWM0|Q6NWM1|Q6NWM2|Q6NWM3|Q6SV45|Q9UPC1	Missense_Mutation	SNP	ENST00000303115.3	37	CCDS3911.1	.	.	.	.	.	.	.	.	.	.	C	0.198	-1.047659	0.01981	.	.	ENSG00000168685	ENST00000303115;ENST00000505875	T;T	0.33216	1.95;1.42	5.6	3.82	0.43975	.	24.127200	0.00166	N	0.000000	T	0.23846	0.0577	N	0.22421	0.69	0.19945	N	0.999945	B	0.26318	0.146	B	0.16722	0.016	T	0.20472	-1.0274	10	0.27785	T	0.31	-0.3804	8.08	0.30739	0.0:0.7568:0.1583:0.0849	.	388	P16871	IL7RA_HUMAN	V	388;154	ENSP00000306157:L388V;ENSP00000420923:L154V	ENSP00000306157:L388V	L	+	1	2	IL7R	35912127	0.000000	0.05858	0.001000	0.08648	0.114000	0.19823	0.279000	0.18771	0.706000	0.31912	-0.137000	0.14449	CTA		0.537	IL7R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207577.2		
ZFP2	80108	hgsc.bcm.edu	37	5	178359660	178359660	+	Missense_Mutation	SNP	G	G	A	rs372895006		TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A01F-01A-01W-A005-10	TCGA-AA-A01F-10A-01W-A005-10	g.chr5:178359660G>A	ENST00000361362.2	+	5	1876	c.1346G>A	c.(1345-1347)cGg>cAg	p.R449Q	ZFP2_ENST00000523286.1_Missense_Mutation_p.R449Q|ZFP2_ENST00000520301.1_Missense_Mutation_p.R449Q|ZFP2_ENST00000503510.2_Missense_Mutation_p.R449Q	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	449					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R449Q(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GCCTTCAGCCGGAGTACAAAC	0.408																																					p.R449Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1346A	5						.	G	GLN/ARG	0,4406		0,0,2203	64.0	63.0	64.0		1346	3.9	1.0	5		64	2,8598	2.2+/-6.3	0,2,4298	no	missense	ZFP2	NM_030613.2	43	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	449/462	178359660	2,13004	2203	4300	6503	178292266	SO:0001583	missense	80108	exon5			AK025281	CCDS4440.1	5q35.3	2013-01-08	2012-11-27		ENSG00000198939	ENSG00000198939		"""Zinc fingers, C2H2-type"""	26138	protein-coding gene	gene with protein product			"""zinc finger protein 2 homolog (mouse)"""				Standard	NM_030613		Approved	FLJ21628, ZNF751	uc003mjn.1	Q6ZN57	OTTHUMG00000130885	ENST00000361362.2:c.1346G>A	5.37:g.178359660G>A	ENSP00000354453:p.Arg449Gln	Somatic		Capture	SOLID	Phase_I	178292266	NM_030613	A5PLN5|B7ZM23|Q9H6Z6	Missense_Mutation	SNP	ENST00000361362.2	37	CCDS4440.1	.	.	.	.	.	.	.	.	.	.	g	1.998	-0.430195	0.04701	0.0	2.33E-4	ENSG00000198939	ENST00000361362;ENST00000520301;ENST00000523286;ENST00000503510	T;T;T;T	0.18502	2.21;2.21;2.21;2.21	4.76	3.87	0.44632	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.30419	N	0.009672	T	0.06142	0.0159	N	0.11000	0.08	0.23144	N	0.998222	B	0.31730	0.337	B	0.15484	0.013	T	0.31503	-0.9941	10	0.02654	T	1	-6.6655	11.0668	0.47980	0.0934:0.0:0.9066:0.0	.	449	Q6ZN57	ZFP2_HUMAN	Q	449	ENSP00000354453:R449Q;ENSP00000430980:R449Q;ENSP00000430531:R449Q;ENSP00000438114:R449Q	ENSP00000354453:R449Q	R	+	2	0	ZFP2	178292266	0.000000	0.05858	0.998000	0.56505	0.898000	0.52572	-0.684000	0.05173	2.449000	0.82847	0.655000	0.94253	CGG		0.408	ZFP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253470.2	NM_030613	
