#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chrUnknown:0T>C								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								4685	SO:0001628	intergenic_variant	0																															Unknown.37:g.0T>C			4685		Missense_Mutation	SNP	HMMPfam_Oxidored_q1,HMMPfam_NADH_dehy_S2_C	p.M72T		37	c.215		MT																																																																																			-	HMMPfam_Oxidored_q1	0	0					MT-ND2			T			4685	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000361453	ensembl	human	known	54_36p	missense	SNP	NULL	C
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chrUnknown:0T>C								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								10536	SO:0001628	intergenic_variant	4538																															Unknown.37:g.0T>C			10536		Silent	SNP	HMMPfam_Oxidored_q2	p.Y22		37	c.66		MT																																																																																			-	HMMPfam_Oxidored_q2	0	0					MT-ND4			T			10536	+1	no_errors	ENST00000361335	ensembl	human	known	54_36p	silent	SNP	NULL	C
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chrUnknown:0T>C								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								11221	SO:0001628	intergenic_variant	4538																															Unknown.37:g.0T>C			11221		Missense_Mutation	SNP	HMMPfam_Oxidored_q5_N,HMMPfam_Oxidored_q1	p.L154P		37	c.461		MT																																																																																			-	HMMPfam_Oxidored_q1	0	0					MT-ND4			T			11221	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000361381	ensembl	human	known	54_36p	missense	SNP	NULL	C
RPH3AL	9501	genome.wustl.edu	37	17	177415	177415	+	Intron	SNP	G	G	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr17:177415G>C	ENST00000331302.7	-	3	272				RPH3AL_ENST00000323434.8_Intron|RPH3AL_ENST00000536489.2_Intron	NM_001190411.1|NM_006987.3	NP_001177340.1|NP_008918.1	Q9UNE2	RPH3L_HUMAN	rabphilin 3A-like (without C2 domains)						exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|intracellular protein transport (GO:0006886)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of protein secretion (GO:0050714)|regulation of calcium ion-dependent exocytosis (GO:0017158)|response to drug (GO:0042493)	cytoplasm (GO:0005737)|secretory granule membrane (GO:0030667)	cytoskeletal protein binding (GO:0008092)|metal ion binding (GO:0046872)			NS(2)|breast(1)|kidney(1)|large_intestine(1)|skin(1)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.023)|all cancers(1;4.96e-06)|Epithelial(1;2.86e-05)|BRCA - Breast invasive adenocarcinoma(1;0.00453)|OV - Ovarian serous cystadenocarcinoma(1;0.0716)|LUAD - Lung adenocarcinoma(1115;0.102)|COAD - Colon adenocarcinoma(4;0.107)		TCATTGGCTGGGGTACAGATG	0.592																																																0			17																																								177415	SO:0001627	intron_variant	729034				CCDS10994.1, CCDS54059.1	17p13.3	2014-07-02			ENSG00000181031	ENSG00000181031		"""Synaptotagmins"""	10296	protein-coding gene	gene with protein product		604881				10395805	Standard	NM_006987		Approved	Noc2	uc021tmx.1	Q9UNE2	OTTHUMG00000090273	ENST00000331302.7:c.36-45C>G	17.37:g.177415G>C			177415	D3DTG7|Q9BSB3	Missense_Mutation	SNP	NULL	p.W461C	ENST00000331302.7	37	c.1383	CCDS10994.1	17																																																																																			-	NULL		0.592	RPH3AL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC729034	protein_coding	OTTHUMT00000206597.2	G	NM_006987		177415	+1	no_start_codon:pseudogene:no_stop_codon	XM_001129120	genbank	human	model	54_36p	missense	SNP	0.002	C
Unknown	0	genome.wustl.edu	37	18	856618	856618	+	IGR	SNP	A	A	G	rs111473155	byFrequency	TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr18:856618A>G								RP11-672L10.6 (42861 upstream) : RP11-672L10.3 (37817 downstream)																							TTCCACATGGAGTTGGAGTGG	0.577													A|||	4	0.000798722	0.003	0.0	5008	,	,		19590	0.0		0.0	False		,,,				2504	0.0															0			18																																								846618	SO:0001628	intergenic_variant	441806																															18.37:g.856618A>G			846618		RNA	SNP	-	NULL		37	NULL		18																																																																																			-	-	0	0.577					LOC441806			A			846618	+1	no_errors	XR_016826	genbank	human	model	54_36p	rna	SNP	1.000	G
SMCHD1	23347	genome.wustl.edu	37	18	2774904	2774904	+	Intron	SNP	G	G	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr18:2774904G>C	ENST00000320876.6	+	42	5513				SMCHD1_ENST00000261598.8_Intron|RP11-703M24.5_ENST00000583546.1_RNA|snoU13_ENST00000459147.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1						chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						tcacgcacatgcgtgagatat	0.443																																																0			18																																								2764904	SO:0001627	intron_variant	0			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.5176-828G>C	18.37:g.2774904G>C			2764904	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	RNA	SNP	-	NULL	ENST00000320876.6	37	NULL	CCDS45822.1	18																																																																																			-	-		0.443	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000209536	protein_coding	OTTHUMT00000441082.2	G			2764904	+1	pseudogene	ENST00000386801	ensembl	human	novel	54_36p	rna	SNP	0.000	C
TPRG1L	127262	genome.wustl.edu	37	1	3545057	3545057	+	Silent	SNP	C	C	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr1:3545057C>T	ENST00000378344.2	+	5	780	c.709C>T	c.(709-711)Ctg>Ttg	p.L237L	TPRG1L_ENST00000344579.5_Silent_p.L178L	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	237						cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|synaptic vesicle (GO:0008021)				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		GAATGGCGTGCTGATCCTGGA	0.498																																																0			1											73.0	69.0	70.0					1																	3545057		2203	4300	6503	3534917	SO:0001819	synonymous_variant	127262			BC019034	CCDS47.1	1p36.32	2008-02-05	2008-01-16	2008-01-16	ENSG00000158109	ENSG00000158109			27007	protein-coding gene	gene with protein product		611460	"""family with sequence similarity 79, member A"""	FAM79A		12477932	Standard	NM_182752		Approved	RP11-46F15.3, FLJ21811	uc001akm.3	Q5T0D9	OTTHUMG00000000609	ENST00000378344.2:c.709C>T	1.37:g.3545057C>T			3534917	A8K1K4|Q8WV04	Silent	SNP	PatternScan_LIPOCALIN	p.L237	ENST00000378344.2	37	c.709	CCDS47.1	1																																																																																			-	NULL		0.498	TPRG1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPRG1L	protein_coding	OTTHUMT00000001466.1	C	NM_182752		3534917	+1	no_errors	NM_182752	genbank	human	validated	54_36p	silent	SNP	1.000	T
SPNS3	201305	genome.wustl.edu	37	17	4356468	4356468	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr17:4356468G>T	ENST00000355530.2	+	8	1361	c.1081G>T	c.(1081-1083)Gtc>Ttc	p.V361F	SPNS3_ENST00000333476.2_Missense_Mutation_p.V234F|SPNS3_ENST00000576069.1_3'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	361					lipid transport (GO:0006869)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CCTGGCTCTCGTCCTGGCCCC	0.622																																																0			17											83.0	86.0	85.0					17																	4356468		2203	4300	6503	4303217	SO:0001583	missense	201305				CCDS11045.1	17p13.2	2014-08-12			ENSG00000182557	ENSG00000182557			28433	protein-coding gene	gene with protein product		611701					Standard	NM_182538		Approved	MGC29671	uc002fxt.3	Q6ZMD2	OTTHUMG00000177737	ENST00000355530.2:c.1081G>T	17.37:g.4356468G>T	ENSP00000347721:p.Val361Phe		4303217	Q8IZ31	Missense_Mutation	SNP	superfamily_MFS general substrate transporter,HMMPfam_MFS_1	p.V361F	ENST00000355530.2	37	c.1081	CCDS11045.1	17	.	.	.	.	.	.	.	.	.	.	G	12.86	2.063407	0.36373	.	.	ENSG00000182557	ENST00000355530;ENST00000333476	T;T	0.59772	0.24;0.24	4.85	-7.96	0.01144	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.738788	0.13096	N	0.414185	T	0.28962	0.0719	N	0.13299	0.325	0.20873	N	0.999838	B;B	0.17465	0.022;0.006	B;B	0.26416	0.054;0.069	T	0.15636	-1.0430	10	0.28530	T	0.3	-5.1934	4.4428	0.11582	0.2839:0.1143:0.4881:0.1137	.	234;361	Q6ZMD2-2;Q6ZMD2	.;SPNS3_HUMAN	F	361;234	ENSP00000347721:V361F;ENSP00000333207:V234F	ENSP00000333207:V234F	V	+	1	0	SPNS3	4303217	0.000000	0.05858	0.686000	0.30086	0.942000	0.58702	-0.653000	0.05360	-1.122000	0.02945	0.442000	0.29010	GTC	-	superfamily_MFS general substrate transporter,HMMPfam_MFS_1		0.622	SPNS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS3	protein_coding	OTTHUMT00000438793.1	G	NM_182538		4303217	+1	no_errors	NM_182538	genbank	human	validated	54_36p	missense	SNP	0.019	T
DHX33	56919	genome.wustl.edu	37	17	5357159	5357159	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr17:5357159G>T	ENST00000225296.3	-	7	1489	c.1289C>A	c.(1288-1290)aCc>aAc	p.T430N	DHX33_ENST00000433302.3_Missense_Mutation_p.T206N	NM_001199699.1|NM_020162.3	NP_001186628.1|NP_064547.2	Q9H6R0	DHX33_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 33	430	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				positive regulation of transcription from RNA polymerase I promoter (GO:0045943)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|rDNA binding (GO:0000182)			breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTCTGGCACGGTCATCTTATC	0.562																																																0			17											96.0	93.0	94.0					17																	5357159		2203	4300	6503	5297883	SO:0001583	missense	56919			AL359945	CCDS11072.1	17p13	2003-06-13	2003-06-13	2003-06-13	ENSG00000005100	ENSG00000005100		"""DEAH-boxes"""	16718	protein-coding gene	gene with protein product		614405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 33"""	DDX33			Standard	NM_020162		Approved	FLJ21972, DKFZp762F2011	uc002gca.3	Q9H6R0	OTTHUMG00000102041	ENST00000225296.3:c.1289C>A	17.37:g.5357159G>T	ENSP00000225296:p.Thr430Asn		5297883	B4DHF9|Q4G149|Q5CZ73|Q9H5M9	Missense_Mutation	SNP	HMMSmart_SM00487,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_DEAH_ATP_HELICASE,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_HA2,HMMPfam_DUF1605	p.T430N	ENST00000225296.3	37	c.1289	CCDS11072.1	17	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002260	0.74932	.	.	ENSG00000005100	ENST00000225296;ENST00000433302	T;T	0.02944	4.1;4.1	5.64	5.64	0.86602	Helicase, C-terminal (1);	0.129612	0.64402	D	0.000001	T	0.11410	0.0278	M	0.71871	2.18	0.80722	D	1	D;B	0.58268	0.982;0.423	P;P	0.54590	0.756;0.531	T	0.00253	-1.1875	10	0.44086	T	0.13	.	18.8715	0.92317	0.0:0.0:1.0:0.0	.	206;430	Q05BE5;Q9H6R0	.;DHX33_HUMAN	N	430;206	ENSP00000225296:T430N;ENSP00000413779:T206N	ENSP00000225296:T430N	T	-	2	0	DHX33	5297883	1.000000	0.71417	0.969000	0.41365	0.951000	0.60555	5.340000	0.65958	2.937000	0.99478	0.650000	0.86243	ACC	-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.562	DHX33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX33	protein_coding	OTTHUMT00000219826.2	G	NM_020162		5297883	-1	no_errors	NM_020162	genbank	human	reviewed	54_36p	missense	SNP	0.999	T
LAG3	3902	genome.wustl.edu	37	12	6883999	6883999	+	Silent	SNP	C	C	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr12:6883999C>T	ENST00000203629.2	+	4	1083	c.750C>T	c.(748-750)aaC>aaT	p.N250N	LAG3_ENST00000441671.2_Silent_p.N250N	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	250	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ATGGCTTCAACGTCTCCATCA	0.557																																																0			12											138.0	122.0	128.0					12																	6883999		2203	4300	6503	6754260	SO:0001819	synonymous_variant	3902				CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.750C>T	12.37:g.6883999C>T			6754260	A8K7T9|Q7Z643	Silent	SNP	HMMSmart_IG,superfamily_SSF48726,HMMPfam_ig,HMMPfam_V-set	p.N250	ENST00000203629.2	37	c.750	CCDS8561.1	12																																																																																			-	superfamily_SSF48726,HMMSmart_IG		0.557	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAG3	protein_coding	OTTHUMT00000402846.1	C			6754260	+1	no_errors	NM_002286	genbank	human	reviewed	54_36p	silent	SNP	0.980	T
MIR548I2	100302277	genome.wustl.edu	37	4	9555514	9555514	+	RNA	SNP	G	G	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr4:9555514G>C	ENST00000408348.1	-	0	149					NR_031688.1				microRNA 548i-2																		TGCCTTCCCGGGGTGAAGGAC	0.433																																																0			4																																								9164612			0					4p16.1	2011-09-12		2008-12-18	ENSG00000221275	ENSG00000221275		"""ncRNAs / Micro RNAs"""	35353	non-coding RNA	RNA, micro				MIRN548I2			Standard	NR_031688		Approved	hsa-mir-548i-2	uc021xlt.1				4.37:g.9555514G>C			9164612		RNA	SNP	-	NULL	ENST00000408348.1	37	NULL		4																																																																																			-	-		0.433	MIR548I2-201	KNOWN	basic	miRNA	LOC100128519	miRNA		G	NR_031688		9164612	-1	pseudogene	XR_038473	genbank	human	model	54_36p	rna	SNP	1.000	C
SWAP70	23075	genome.wustl.edu	37	11	9735053	9735053	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr11:9735053G>T	ENST00000318950.6	+	3	384	c.281G>T	c.(280-282)tGt>tTt	p.C94F	SWAP70_ENST00000447399.2_Intron	NM_015055.2	NP_055870.2	Q9UH65	SWP70_HUMAN	SWAP switching B-cell complex 70kDa subunit	94					isotype switching (GO:0045190)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)			NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	11				all cancers(16;1.21e-10)|Epithelial(150;2.81e-09)|BRCA - Breast invasive adenocarcinoma(625;0.00649)		AATAGGATGTGTTGGACCCTC	0.353																																																0			11											82.0	86.0	85.0					11																	9735053		2201	4294	6495	9691629	SO:0001583	missense	23075			AB014540	CCDS31426.1, CCDS73257.1	11p15	2013-01-10			ENSG00000133789	ENSG00000133789		"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	17070	protein-coding gene	gene with protein product		604762				9734811, 10681448	Standard	XM_005252829		Approved	KIAA0640, SWAP-70	uc001mhw.3	Q9UH65	OTTHUMG00000165865	ENST00000318950.6:c.281G>T	11.37:g.9735053G>T	ENSP00000315630:p.Cys94Phe		9691629	D3DQV1|O75135|Q7LCY6|Q9P061|Q9P0Z8	Missense_Mutation	SNP	superfamily_SSF47473,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH	p.C94F	ENST00000318950.6	37	c.281	CCDS31426.1	11	.	.	.	.	.	.	.	.	.	.	G	24.3	4.521017	0.85495	.	.	ENSG00000133789	ENST00000318950	T	0.25085	1.82	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.56277	0.1974	M	0.80982	2.52	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.59925	-0.7362	10	0.87932	D	0	-9.2291	19.7341	0.96195	0.0:0.0:1.0:0.0	.	94	Q9UH65	SWP70_HUMAN	F	94	ENSP00000315630:C94F	ENSP00000315630:C94F	C	+	2	0	SWAP70	9691629	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.465000	0.97660	2.672000	0.90937	0.650000	0.86243	TGT	-	superfamily_SSF47473		0.353	SWAP70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWAP70	protein_coding	OTTHUMT00000386766.2	G	NM_015055		9691629	+1	no_errors	NM_015055	genbank	human	validated	54_36p	missense	SNP	1.000	T
MYH2	4620	genome.wustl.edu	37	17	10432684	10432684	+	Nonsense_Mutation	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr17:10432684C>A	ENST00000245503.5	-	25	3616	c.3232G>T	c.(3232-3234)Gag>Tag	p.E1078*	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Nonsense_Mutation_p.E1078*|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1078					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGCTGTTTCTCATTTTCAATG	0.388																																																0			17											145.0	134.0	138.0					17																	10432684		2203	4300	6503	10373409	SO:0001587	stop_gained	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3232G>T	17.37:g.10432684C>A	ENSP00000245503:p.Glu1078*		10373409	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Nonsense_Mutation	SNP	HMMPfam_Myosin_N,superfamily_SSF52540,HMMSmart_MYSc,HMMPfam_Myosin_head,HMMSmart_IQ,HMMPfam_IQ,HMMPfam_Myosin_tail_1	p.E1078*	ENST00000245503.5	37	c.3232	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	C	43	10.232787	0.99365	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	.	.	.	5.15	5.15	0.70609	.	0.199034	0.24211	U	0.040524	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.7991	0.92008	0.0:1.0:0.0:0.0	.	.	.	.	X	1078	.	ENSP00000245503:E1078X	E	-	1	0	MYH2	10373409	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	7.346000	0.79347	2.671000	0.90904	0.591000	0.81541	GAG	-	HMMPfam_Myosin_tail_1		0.388	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	protein_coding	OTTHUMT00000252726.3	C	NM_017534		10373409	-1	no_errors	NM_001100112	genbank	human	validated	54_36p	nonsense	SNP	1.000	A
CARM1	10498	genome.wustl.edu	37	19	11030602	11030602	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr19:11030602G>A	ENST00000327064.4	+	10	1346	c.1156G>A	c.(1156-1158)Ggc>Agc	p.G386S	CARM1_ENST00000344150.4_Missense_Mutation_p.G386S	NM_199141.1	NP_954592.1	Q86X55	CARM1_HUMAN	coactivator-associated arginine methyltransferase 1	386	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cellular lipid metabolic process (GO:0044255)|endochondral bone morphogenesis (GO:0060350)|histone H3-R17 methylation (GO:0034971)|histone H3-R2 methylation (GO:0034970)|histone methylation (GO:0016571)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of protein binding (GO:0032091)|pathogenesis (GO:0009405)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	beta-catenin binding (GO:0008013)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-R17 specific) (GO:0035642)|histone-arginine N-methyltransferase activity (GO:0008469)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|lysine-acetylated histone binding (GO:0070577)|protein methyltransferase activity (GO:0008276)|protein-arginine N-methyltransferase activity (GO:0016274)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						GCTGGTCCACGGCCTGGCTTT	0.597																																																0			19											82.0	76.0	78.0					19																	11030602		2203	4300	6503	10891602	SO:0001583	missense	10498			AF055027	CCDS12250.1	19p13.2	2010-10-11			ENSG00000142453	ENSG00000142453		"""Protein arginine methyltransferases"""	23393	protein-coding gene	gene with protein product		603934				10381882, 11724789	Standard	NM_199141		Approved	PRMT4	uc002mpz.3	Q86X55		ENST00000327064.4:c.1156G>A	19.37:g.11030602G>A	ENSP00000325690:p.Gly386Ser		10891602	A6NN38	Missense_Mutation	SNP	superfamily_SSF53335,HMMPfam_PrmA	p.G386S	ENST00000327064.4	37	c.1156	CCDS12250.1	19	.	.	.	.	.	.	.	.	.	.	G	35	5.497780	0.96355	.	.	ENSG00000142453	ENST00000327064;ENST00000344150	T;T	0.27402	1.67;1.67	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.62478	0.2431	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.70178	-0.4943	10	0.87932	D	0	-3.3112	17.3884	0.87423	0.0:0.0:1.0:0.0	.	386;386	Q86X55-1;Q86X55	.;CARM1_HUMAN	S	386	ENSP00000325690:G386S;ENSP00000340934:G386S	ENSP00000325690:G386S	G	+	1	0	CARM1	10891602	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	9.067000	0.93955	2.391000	0.81399	0.563000	0.77884	GGC	-	superfamily_SSF53335		0.597	CARM1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CARM1	protein_coding	OTTHUMT00000452625.1	G	XM_032719		10891602	+1	no_errors	NM_199141	genbank	human	validated	54_36p	missense	SNP	1.000	A
ROCK2	9475	genome.wustl.edu	37	2	11355067	11355067	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:11355067G>A	ENST00000315872.6	-	16	2283	c.1835C>T	c.(1834-1836)gCc>gTc	p.A612V	ROCK2_ENST00000401753.1_Missense_Mutation_p.A369V	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	612	Interaction with PPP1R12A.				actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TTTTAACTTGGCAGTCTCCAG	0.393																																																0			2											96.0	86.0	89.0					2																	11355067		1816	4071	5887	11272518	SO:0001583	missense	9475			D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.1835C>T	2.37:g.11355067G>A	ENSP00000317985:p.Ala612Val		11272518	Q53QZ0|Q53SJ7|Q9UQN5	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,HMMSmart_SM00133,HMMPfam_Pkinase_C,HMMPfam_HR1,HMMPfam_Rho_Binding,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Cysteine-rich domain,HMMPfam_C1_1,HMMSmart_SM00109	p.A612V	ENST00000315872.6	37	c.1835	CCDS42654.1	2	.	.	.	.	.	.	.	.	.	.	G	14.53	2.561560	0.45590	.	.	ENSG00000134318	ENST00000315872;ENST00000401753	T;T	0.62941	-0.01;1.05	5.03	5.03	0.67393	.	0.225320	0.45361	D	0.000378	T	0.54581	0.1867	L	0.36672	1.1	0.38785	D	0.954841	B	0.12013	0.005	B	0.11329	0.006	T	0.52335	-0.8589	10	0.30078	T	0.28	.	18.3685	0.90399	0.0:0.0:1.0:0.0	.	612	O75116	ROCK2_HUMAN	V	612;369	ENSP00000317985:A612V;ENSP00000385509:A369V	ENSP00000317985:A612V	A	-	2	0	ROCK2	11272518	0.968000	0.33430	1.000000	0.80357	0.998000	0.95712	3.198000	0.51035	2.326000	0.78906	0.650000	0.86243	GCC	-	NULL		0.393	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROCK2	protein_coding	OTTHUMT00000313886.3	G			11272518	-1	no_errors	NM_004850	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
TRIO	7204	genome.wustl.edu	37	5	14358356	14358356	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr5:14358356G>T	ENST00000344204.4	+	12	2140	c.2116G>T	c.(2116-2118)Gtg>Ttg	p.V706L	TRIO_ENST00000509967.2_Missense_Mutation_p.V657L|TRIO_ENST00000537187.1_Missense_Mutation_p.V706L	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	706					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GGTGGAGGCCGTGCAGGACCT	0.642																																																0			5											111.0	88.0	96.0					5																	14358356		2203	4300	6503	14411356	SO:0001583	missense	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.2116G>T	5.37:g.14358356G>T	ENSP00000339299:p.Val706Leu		14411356	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	superfamily_CRAL/TRIO domain,HMMSmart_SM00516,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_Spectrin repeat,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST	p.V706L	ENST00000344204.4	37	c.2116	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659861	0.67586	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T;T	0.43688	0.98;0.98;0.94;0.94	4.61	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.49592	0.1566	N	0.19112	0.55	0.80722	D	1	P;D;D	0.76494	0.726;0.999;0.993	P;D;D	0.74023	0.644;0.982;0.964	T	0.50659	-0.8802	10	0.36615	T	0.2	.	17.7922	0.88555	0.0:0.0:1.0:0.0	.	657;706;706	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	L	706;706;657;393	ENSP00000339299:V706L;ENSP00000446348:V706L;ENSP00000445592:V657L;ENSP00000426342:V393L	ENSP00000339299:V706L	V	+	1	0	TRIO	14411356	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.782000	0.99034	2.273000	0.75805	0.484000	0.47621	GTG	-	superfamily_Spectrin repeat,HMMSmart_SM00150		0.642	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	protein_coding	OTTHUMT00000253711.2	G	NM_007118		14411356	+1	no_errors	NM_007118	genbank	human	validated	54_36p	missense	SNP	1.000	T
ZNF333	84449	genome.wustl.edu	37	19	14806465	14806465	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr19:14806465C>G	ENST00000292530.6	+	4	306	c.215C>G	c.(214-216)aCa>aGa	p.T72R	ZNF333_ENST00000601629.1_3'UTR|ZNF333_ENST00000601134.1_Intron|ZNF333_ENST00000540689.2_Missense_Mutation_p.T72R|ZNF333_ENST00000536363.1_5'UTR	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	72	KRAB 1. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CTCCGTGCCACAGGTGTTGGT	0.562																																					NSCLC(60;75 1281 16985 25154 29885)											0			19											109.0	89.0	95.0					19																	14806465		2203	4300	6503	14667465	SO:0001583	missense	84449				CCDS12316.1, CCDS74298.1	19p13	2013-01-08				ENSG00000160961		"""Zinc fingers, C2H2-type"", ""-"""	15624	protein-coding gene	gene with protein product		611811				12151103	Standard	XM_005260098		Approved	KIAA1806	uc002mzn.3	Q96JL9		ENST00000292530.6:c.215C>G	19.37:g.14806465C>G	ENSP00000292530:p.Thr72Arg		14667465	Q6P2E6|Q86WS6|Q8TDL0	Missense_Mutation	SNP	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.T72R	ENST00000292530.6	37	c.215	CCDS12316.1	19	.	.	.	.	.	.	.	.	.	.	C	11.20	1.567432	0.28003	.	.	ENSG00000160961	ENST00000392987;ENST00000540689;ENST00000292530	T;T	0.06449	5.57;3.3	2.73	-0.993	0.10228	Krueppel-associated box (1);	.	.	.	.	T	0.04092	0.0114	L	0.50333	1.59	0.09310	N	0.999998	B;P	0.46512	0.334;0.879	B;B	0.35353	0.1;0.201	T	0.38520	-0.9657	9	0.15952	T	0.53	.	2.6987	0.05142	0.2213:0.5067:0.0:0.272	.	72;72	Q96JL9;Q6P2E6	ZN333_HUMAN;.	R	72	ENSP00000438130:T72R;ENSP00000292530:T72R	ENSP00000292530:T72R	T	+	2	0	ZNF333	14667465	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.408000	0.02485	-0.228000	0.09869	0.511000	0.50034	ACA	-	NULL		0.562	ZNF333-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF333	protein_coding	OTTHUMT00000466496.1	C	NM_032433		14667465	+1	no_errors	NM_032433	genbank	human	validated	54_36p	missense	SNP	0.001	G
NBAS	51594	genome.wustl.edu	37	2	15468372	15468372	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:15468372C>T	ENST00000281513.5	-	37	4437	c.4412G>A	c.(4411-4413)gGg>gAg	p.G1471E	NBAS_ENST00000441750.1_Missense_Mutation_p.G1351E	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1471					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGGATGACACCCTTGTTTCTC	0.378																																																0			2											212.0	190.0	197.0					2																	15468372		2203	4300	6503	15385823	SO:0001583	missense	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4412G>A	2.37:g.15468372C>T	ENSP00000281513:p.Gly1471Glu		15385823	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	superfamily_WD40 repeat-like,HMMPfam_Sec39,PatternScan_RIBOSOMAL_S14	p.G1471E	ENST00000281513.5	37	c.4412	CCDS1685.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.24|15.24	2.775241|2.775241	0.49786|0.49786	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|T	0.12361|0.23950	2.69;2.89|1.88	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.044941|0.044941	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.47116|0.47116	0.1428|0.1428	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.992|.	T|T	0.33624|0.33624	-0.9861|-0.9861	10|8	0.87932|0.34782	D|T	0|0.22	.|.	16.0111|16.0111	0.80404|0.80404	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1351;1471|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	E|S	1351;1471|519	ENSP00000413201:G1351E;ENSP00000281513:G1471E|ENSP00000398411:G519S	ENSP00000281513:G1471E|ENSP00000398411:G519S	G|G	-|-	2|1	0|0	NBAS|NBAS	15385823|15385823	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.090000|0.090000	0.18270|0.18270	5.714000|5.714000	0.68422|0.68422	2.576000|2.576000	0.86940|0.86940	0.655000|0.655000	0.94253|0.94253	GGG|GGT	-	NULL		0.378	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	protein_coding	OTTHUMT00000241638.1	C	NM_015909		15385823	-1	no_errors	NM_015909	genbank	human	validated	54_36p	missense	SNP	1.000	T
CCT8L2	150160	genome.wustl.edu	37	22	17073310	17073310	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr22:17073310G>T	ENST00000359963.3	-	1	390	c.131C>A	c.(130-132)gCc>gAc	p.A44D		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	44					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GATGACACTGGCCAGGGTCTG	0.642																																																0			22											63.0	67.0	66.0					22																	17073310		2203	4300	6503	15453310	SO:0001583	missense	150160			AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.131C>A	22.37:g.17073310G>T	ENSP00000353048:p.Ala44Asp		15453310	A4QPH3|Q9UJS3	Missense_Mutation	SNP	superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1,superfamily_GroEL-intermediate domain like,superfamily_GroEL apical domain-like	p.A44D	ENST00000359963.3	37	c.131	CCDS13738.1	22	.	.	.	.	.	.	.	.	.	.	g	19.17	3.775933	0.70107	.	.	ENSG00000198445	ENST00000359963	D	0.81739	-1.53	2.0	2.0	0.26442	.	0.000000	0.38217	U	0.001761	D	0.87022	0.6074	M	0.80332	2.49	0.23519	N	0.997503	D	0.67145	0.996	D	0.72625	0.978	T	0.76252	-0.3027	10	0.87932	D	0	-14.2508	7.4831	0.27417	0.0:0.0:1.0:0.0	.	44	Q96SF2	TCPQM_HUMAN	D	44	ENSP00000353048:A44D	ENSP00000353048:A44D	A	-	2	0	CCT8L2	15453310	0.752000	0.28338	0.091000	0.20842	0.845000	0.48019	0.772000	0.26647	1.126000	0.42016	0.393000	0.25936	GCC	-	superfamily_GroEL equatorial domain-like,HMMPfam_Cpn60_TCP1		0.642	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT8L2	protein_coding	OTTHUMT00000280580.1	G			15453310	-1	no_errors	NM_014406	genbank	human	validated	54_36p	missense	SNP	0.068	T
IL17RA	23765	genome.wustl.edu	37	22	17582934	17582934	+	Splice_Site	SNP	G	G	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr22:17582934G>A	ENST00000319363.6	+	6	731		c.e6+1			NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A						cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		ATGAGCTCAGGTAACAGCTGG	0.547																																																0			22											125.0	119.0	121.0					22																	17582934		2203	4300	6503	15962934	SO:0001630	splice_region_variant	23765			U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.598+1G>A	22.37:g.17582934G>A			15962934	O43844|Q20WK1	Splice_Site	SNP	-	e6+1	ENST00000319363.6	37	c.598+1	CCDS13739.1	22	.	.	.	.	.	.	.	.	.	.	G	11.01	1.511950	0.27036	.	.	ENSG00000177663	ENST00000425985;ENST00000319363	.	.	.	4.78	4.78	0.61160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9963	0.71433	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	IL17RA	15962934	1.000000	0.71417	0.997000	0.53966	0.094000	0.18550	5.648000	0.67930	2.215000	0.71742	0.313000	0.20887	.	-	-		0.547	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17RA	protein_coding	OTTHUMT00000315820.1	G	NM_014339	Intron	15962934	+1	no_errors	NM_014339	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	A
PIK3C2G	5288	genome.wustl.edu	37	12	18499692	18499692	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr12:18499692A>T	ENST00000266497.5	+	10	1585	c.1547A>T	c.(1546-1548)tAt>tTt	p.Y516F	PIK3C2G_ENST00000535651.1_Missense_Mutation_p.Y516F|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.Y516F|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.Y516F			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	516	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGCACTTCCTATCTAAATCCC	0.448																																																0			12											129.0	125.0	126.0					12																	18499692		1944	4134	6078	18390959	SO:0001583	missense	5288			AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.1547A>T	12.37:g.18499692A>T	ENSP00000266497:p.Tyr516Phe		18390959	A1L3U0	Missense_Mutation	SNP	superfamily_Ubiquitin-like,HMMPfam_PI3K_rbd,HMMPfam_PI3K_C2,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),superfamily_ARM repeat,HMMSmart_SM00145,HMMPfam_PI3Ka,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_1,PatternScan_PI3_4_KINASE_2,superfamily_PX domain,HMMPfam_PX,HMMSmart_SM00312,HMMSmart_SM00239,HMMPfam_C2	p.Y516F	ENST00000266497.5	37	c.1547	CCDS44839.1	12	.	.	.	.	.	.	.	.	.	.	A	0.007	-2.009319	0.00426	.	.	ENSG00000139144	ENST00000535651;ENST00000433979;ENST00000266497;ENST00000538779	T;T;T;T	0.79454	1.55;-1.27;-1.27;0.21	3.98	-7.97	0.01139	Phosphoinositide 3-kinase, C2 (2);	5.290950	0.00166	N	0.000001	T	0.48259	0.1490	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.09377	0.001;0.002;0.004	T	0.54084	-0.8346	10	0.10111	T	0.7	13.1677	0.415	0.00447	0.2711:0.2893:0.1713:0.2683	.	515;516;516	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	F	516	ENSP00000443850:Y516F;ENSP00000404845:Y516F;ENSP00000266497:Y516F;ENSP00000445381:Y516F	ENSP00000266497:Y516F	Y	+	2	0	PIK3C2G	18390959	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.771000	0.04699	-2.948000	0.00294	-0.388000	0.06559	TAT	-	HMMPfam_PI3K_C2		0.448	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PIK3C2G	protein_coding	OTTHUMT00000401316.1	A	NM_004570		18390959	+1	no_errors	ENST00000266497	ensembl	human	known	54_36p	missense	SNP	0.000	T
SUGP2	10147	genome.wustl.edu	37	19	19135921	19135921	+	Silent	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr19:19135921C>A	ENST00000601879.1	-	3	1533	c.1236G>T	c.(1234-1236)gtG>gtT	p.V412V	SUGP2_ENST00000598202.1_5'Flank|SUGP2_ENST00000456085.2_Silent_p.V181V|SUGP2_ENST00000600377.1_Silent_p.V426V|SUGP2_ENST00000452918.2_Silent_p.V412V|SUGP2_ENST00000337018.6_Silent_p.V412V			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	412					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						TTTTGGTCTTCACAGCACCTT	0.338																																																0			19											57.0	60.0	59.0					19																	19135921		2203	4300	6503	18996921	SO:0001819	synonymous_variant	10147			AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.1236G>T	19.37:g.19135921C>A			18996921	C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Silent	SNP	superfamily_Surp module (SWAP domain Pfam 01805),HMMSmart_SM00648,HMMPfam_Surp,HMMSmart_SM00443,HMMPfam_G-patch	p.V412	ENST00000601879.1	37	c.1236	CCDS12392.1	19																																																																																			-	NULL		0.338	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SFRS14	protein_coding	OTTHUMT00000464627.1	C	NM_001017392		18996921	-1	no_errors	NM_001017392	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
ARL5B	221079	genome.wustl.edu	37	10	18957583	18957583	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr10:18957583A>G	ENST00000377275.3	+	3	465	c.232A>G	c.(232-234)Aac>Gac	p.N78D		NM_178815.3	NP_848930.1	Q96KC2	ARL5B_HUMAN	ADP-ribosylation factor-like 5B	78					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			lung(1)|ovary(1)	2						ATCATCCTGGAACACATATTA	0.383																																																0			10											120.0	115.0	117.0					10																	18957583		2203	4300	6503	18997589	SO:0001583	missense	221079			AF494061	CCDS7131.1	10p13	2014-05-09	2005-11-03	2005-11-03	ENSG00000165997	ENSG00000165997		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	23052	protein-coding gene	gene with protein product		608909	"""ADP-ribosylation factor-like 8"""	ARL8		12853149	Standard	XM_005252400		Approved		uc001iqd.1	Q96KC2	OTTHUMG00000017765	ENST00000377275.3:c.232A>G	10.37:g.18957583A>G	ENSP00000366487:p.Asn78Asp		18997589		Missense_Mutation	SNP	HMMSmart_SM00178,HMMPfam_Arf,HMMSmart_SM00177,superfamily_P-loop containing nucleoside triphosphate hydrolases,PatternScan_ARF	p.N78D	ENST00000377275.3	37	c.232	CCDS7131.1	10	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673827	0.67928	.	.	ENSG00000165997	ENST00000377275	T	0.62232	0.04	5.83	5.83	0.93111	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.56920	0.2018	L	0.41124	1.26	0.80722	D	1	B	0.13594	0.008	B	0.17722	0.019	T	0.55068	-0.8198	10	0.87932	D	0	-20.4382	16.1968	0.82036	1.0:0.0:0.0:0.0	.	78	Q96KC2	ARL5B_HUMAN	D	78	ENSP00000366487:N78D	ENSP00000366487:N78D	N	+	1	0	ARL5B	18997589	1.000000	0.71417	1.000000	0.80357	0.244000	0.25665	9.335000	0.96500	2.225000	0.72522	0.533000	0.62120	AAC	-	HMMSmart_SM00178,HMMPfam_Arf,HMMSmart_SM00177,superfamily_P-loop containing nucleoside triphosphate hydrolases		0.383	ARL5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL5B	protein_coding	OTTHUMT00000047078.1	A	NM_178815		18997589	+1	no_errors	NM_178815	genbank	human	validated	54_36p	missense	SNP	1.000	G
GP2	2813	genome.wustl.edu	37	16	20327317	20327317	+	Silent	SNP	G	G	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr16:20327317G>A	ENST00000381362.4	-	10	1547	c.1471C>T	c.(1471-1473)Cta>Tta	p.L491L	GP2_ENST00000302555.5_Silent_p.L488L|GP2_ENST00000381360.5_Silent_p.L344L|GP2_ENST00000341642.5_Silent_p.L341L|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)	491					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)			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						ACCCGGGCTAGGTCGATGGCC	0.468																																																0			16											116.0	108.0	111.0					16																	20327317		2203	4300	6503	20234818	SO:0001819	synonymous_variant	2813			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.1471C>T	16.37:g.20327317G>A			20234818	A6NFM9|A6NJA8|Q13338|Q9UIF1	Silent	SNP	HMMPfam_Zona_pellucida,HMMSmart_SM00241,PatternScan_ZP_1	p.L491	ENST00000381362.4	37	c.1471	CCDS42128.1	16																																																																																			-	NULL		0.468	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GP2	protein_coding	OTTHUMT00000436920.1	G	NM_016295		20234818	-1	no_errors	NM_001007240	genbank	human	validated	54_36p	silent	SNP	0.000	A
PLXDC2	84898	genome.wustl.edu	37	10	20290882	20290882	+	Silent	SNP	G	G	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr10:20290882G>A	ENST00000377252.4	+	2	1132	c.291G>A	c.(289-291)ctG>ctA	p.L97L	PLXDC2_ENST00000377242.3_Silent_p.L97L	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2	97					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						ACCTGCTGCTGGATGATGGGC	0.458																																																0			10											73.0	65.0	68.0					10																	20290882		2203	4300	6503	20330888	SO:0001819	synonymous_variant	84898			AF378757	CCDS7132.1, CCDS60497.1	10p12.33	2006-04-12			ENSG00000120594	ENSG00000120594			21013	protein-coding gene	gene with protein product	"""tumor endothelial marker 7-related precursor"""	606827				11559528	Standard	NM_001282736		Approved	TEM7R, FLJ14623	uc001iqg.1	Q6UX71	OTTHUMG00000017781	ENST00000377252.4:c.291G>A	10.37:g.20290882G>A			20330888	Q96E59|Q96PD9|Q96SU9	Silent	SNP	HMMPfam_PSI,HMMSmart_SM00423	p.L97	ENST00000377252.4	37	c.291	CCDS7132.1	10																																																																																			-	NULL		0.458	PLXDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXDC2	protein_coding	OTTHUMT00000047101.2	G	NM_032812		20330888	+1	no_errors	NM_032812	genbank	human	provisional	54_36p	silent	SNP	0.977	A
ACSM1	116285	genome.wustl.edu	37	16	20673154	20673154	+	Silent	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr16:20673154T>C	ENST00000307493.4	-	6	1021	c.954A>G	c.(952-954)tcA>tcG	p.S318S	ACSM1_ENST00000520010.1_Silent_p.S318S|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	318					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GATATATAGATGATACCCCCC	0.363																																																0			16											86.0	82.0	83.0					16																	20673154		2201	4300	6501	20580655	SO:0001819	synonymous_variant	116285			AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.954A>G	16.37:g.20673154T>C			20580655	Q08AH2|Q96A20	Silent	SNP	superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding,PatternScan_AMP_BINDING	p.S318	ENST00000307493.4	37	c.954	CCDS10587.1	16	.	.	.	.	.	.	.	.	.	.	T	5.128	0.209299	0.09757	.	.	ENSG00000166743	ENST00000524149	.	.	.	4.8	-9.59	0.00556	.	.	.	.	.	T	0.20901	0.0503	.	.	.	0.26979	N	0.965419	.	.	.	.	.	.	T	0.12708	-1.0537	4	.	.	.	.	4.8987	0.13764	0.0955:0.1941:0.4876:0.2228	.	.	.	.	R	24	.	.	H	-	2	0	ACSM1	20580655	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	-0.667000	0.05274	-2.602000	0.00450	0.491000	0.48974	CAT	-	superfamily_Acetyl-CoA synthetase-like,HMMPfam_AMP-binding		0.363	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM1	protein_coding	OTTHUMT00000254412.1	T	NM_052956		20580655	-1	no_errors	NM_052956	genbank	human	validated	54_36p	silent	SNP	0.000	C
PPM1F	9647	genome.wustl.edu	37	22	22277647	22277647	+	Missense_Mutation	SNP	C	C	G	rs146460819		TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr22:22277647C>G	ENST00000263212.5	-	8	1288	c.1183G>C	c.(1183-1185)Gct>Cct	p.A395P	PPM1F_ENST00000538191.1_Missense_Mutation_p.A291P|PPM1F_ENST00000407142.1_Missense_Mutation_p.A227P	NM_014634.3	NP_055449.1	P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	395					cellular response to drug (GO:0035690)|histone dephosphorylation (GO:0016576)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of gene expression (GO:0010628)|positive regulation of growth (GO:0045927)|positive regulation of stress fiber assembly (GO:0051496)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	calmodulin-dependent protein phosphatase activity (GO:0033192)|metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CGGGCCGCAGCCACCAGCTCC	0.667																																																0			22											38.0	43.0	41.0					22																	22277647		2203	4299	6502	20607647	SO:0001583	missense	9647			D13640	CCDS13796.1	22q11.22	2012-04-17	2010-03-05		ENSG00000100034	ENSG00000100034	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19388	protein-coding gene	gene with protein product	"""partner of PIX 2"", ""Ca(2+)/calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1F (PP2C domain containing)"""			11864573, 11559703	Standard	NM_014634		Approved	FEM-2, KIAA0015, POPX2, CaMKPase, CAMKP	uc002zvp.2	P49593	OTTHUMG00000150835	ENST00000263212.5:c.1183G>C	22.37:g.22277647C>G	ENSP00000263212:p.Ala395Pro		20607647	A8K6G3|B7Z2C3|Q96PM2	Missense_Mutation	SNP	superfamily_PP2C-related,HMMSmart_PP2Cc,HMMPfam_PP2C,HMMSmart_PP2C_SIG,PatternScan_PP2C	p.A395P	ENST00000263212.5	37	c.1183	CCDS13796.1	22	.	.	.	.	.	.	.	.	.	.	C	13.30	2.196948	0.38806	.	.	ENSG00000100034	ENST00000263212;ENST00000407142;ENST00000406981;ENST00000538191	T;T;T	0.17691	2.26;2.26;2.26	5.3	2.12	0.27331	Protein phosphatase 2C-like (5);	0.513245	0.22094	N	0.064703	T	0.29749	0.0743	L	0.55990	1.75	0.37162	D	0.902642	D;D	0.69078	0.997;0.997	D;D	0.70227	0.953;0.968	T	0.07616	-1.0763	10	0.32370	T	0.25	-8.3454	7.9895	0.30231	0.1175:0.6904:0.0:0.1921	.	291;395	B7Z2C3;P49593	.;PPM1F_HUMAN	P	395;227;227;291	ENSP00000263212:A395P;ENSP00000384930:A227P;ENSP00000439915:A291P	ENSP00000263212:A395P	A	-	1	0	PPM1F	20607647	1.000000	0.71417	0.495000	0.27527	0.076000	0.17211	1.097000	0.30988	0.115000	0.18071	-2.995000	0.00078	GCT	-	superfamily_PP2C-related,HMMSmart_PP2Cc,HMMPfam_PP2C,HMMSmart_PP2C_SIG		0.667	PPM1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1F	protein_coding	OTTHUMT00000320267.2	C	NM_014634		20607647	-1	no_errors	NM_014634	genbank	human	reviewed	54_36p	missense	SNP	0.999	G
MYH7	4625	genome.wustl.edu	37	14	23886201	23886201	+	Splice_Site	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr14:23886201T>C	ENST00000355349.3	-	33	4682	c.4520A>G	c.(4519-4521)gAg>gGg	p.E1507G	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1507					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGAGATCTCCTCTGTGTGGGG	0.587																																																0			14											101.0	97.0	99.0					14																	23886201		2203	4300	6503	22956041	SO:0001630	splice_region_variant	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4520-1A>G	14.37:g.23886201T>C			22956041	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	HMMPfam_Myosin_N,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMSmart_SM00015,HMMPfam_IQ,superfamily_Prefoldin,HMMPfam_Myosin_tail_1	p.E1507G	ENST00000355349.3	37	c.4520	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117537	0.77323	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	T	0.79247	-1.25	5.01	5.01	0.66863	Myosin tail (1);	.	.	.	.	D	0.84692	0.5528	M	0.88979	2.995	0.80722	D	1	P	0.35481	0.504	B	0.43018	0.405	D	0.87308	0.2310	9	0.87932	D	0	.	14.8886	0.70590	0.0:0.0:0.0:1.0	.	1507	P12883	MYH7_HUMAN	G	1507;1512	ENSP00000347507:E1507G	ENSP00000347507:E1507G	E	-	2	0	MYH7	22956041	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.801000	0.69115	2.099000	0.63709	0.482000	0.46254	GAG	-	HMMPfam_Myosin_tail_1		0.587	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	protein_coding	OTTHUMT00000071798.3	T	NM_000257	Missense_Mutation	22956041	-1	no_errors	NM_000257	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
MYH7	4625	genome.wustl.edu	37	14	23892773	23892773	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr14:23892773C>G	ENST00000355349.3	-	24	3244	c.3082G>C	c.(3082-3084)Gag>Cag	p.E1028Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1028					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACTTGCTGCTCCAGCTTGACT	0.532																																																0			14											213.0	202.0	206.0					14																	23892773		2203	4300	6503	22962613	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.3082G>C	14.37:g.23892773C>G	ENSP00000347507:p.Glu1028Gln		22962613	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	HMMPfam_IQ,HMMSmart_SM00015,HMMPfam_Myosin_head,HMMSmart_SM00242,HMMPfam_Myosin_tail_1,HMMPfam_Myosin_N,superfamily_Prefoldin,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.E1028Q	ENST00000355349.3	37	c.3082	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	C	24.1	4.495760	0.85069	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.86497	-2.13	5.06	5.06	0.68205	.	.	.	.	.	D	0.95541	0.8551	H	0.94183	3.505	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.96474	0.9351	9	0.72032	D	0.01	.	18.6094	0.91279	0.0:1.0:0.0:0.0	.	1028	P12883	MYH7_HUMAN	Q	1028	ENSP00000347507:E1028Q	ENSP00000347507:E1028Q	E	-	1	0	MYH7	22962613	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.489000	0.81451	2.638000	0.89438	0.655000	0.94253	GAG	-	superfamily_Prefoldin		0.532	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	protein_coding	OTTHUMT00000071798.3	C	NM_000257		22962613	-1	no_errors	NM_000257	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
CPNE6	9362	genome.wustl.edu	37	14	24545435	24545435	+	Silent	SNP	C	C	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr14:24545435C>T	ENST00000397016.2	+	12	1313	c.1002C>T	c.(1000-1002)ccC>ccT	p.P334P	CPNE6_ENST00000216775.2_Silent_p.P334P|CPNE6_ENST00000537691.1_Silent_p.P389P	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	334	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CCCGACAGCCCAACCACTACC	0.652																																																0			14											60.0	58.0	59.0					14																	24545435		2203	4300	6503	23615275	SO:0001819	synonymous_variant	9362			AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.1002C>T	14.37:g.24545435C>T			23615275	B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Silent	SNP	superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_Copine	p.P334	ENST00000397016.2	37	c.1002	CCDS9607.1	14																																																																																			-	superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_Copine		0.652	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE6	protein_coding	OTTHUMT00000071869.5	C			23615275	+1	no_errors	NM_006032	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
SOX5	6660	genome.wustl.edu	37	12	23728640	23728640	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr12:23728640C>A	ENST00000451604.2	-	10	1398	c.1297G>T	c.(1297-1299)Gtc>Ttc	p.V433F	SOX5_ENST00000381381.2_Intron|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000546136.1_Missense_Mutation_p.V420F|SOX5_ENST00000545921.1_Missense_Mutation_p.V423F|SOX5_ENST00000396007.2_Missense_Mutation_p.V47F|SOX5_ENST00000309359.1_Missense_Mutation_p.V420F|SOX5_ENST00000537393.1_Missense_Mutation_p.V398F			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	433					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)			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						GCTGCTGGGACAGAGGCTTTG	0.478																																																0			12											136.0	138.0	137.0					12																	23728640		2203	4300	6503	23619907	SO:0001583	missense	6660			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.1297G>T	12.37:g.23728640C>A	ENSP00000398273:p.Val433Phe		23619907	B7Z8V0|F5H5B0|Q86UK8|Q8J017|Q8J018|Q8J019|Q8J020|Q8N1D9|Q8N7E0|Q8TEA4	Missense_Mutation	SNP	PatternScan_TONB_DEPENDENT_REC_1,superfamily_HMG-box,HMMSmart_SM00398,HMMPfam_HMG_box	p.V433F	ENST00000451604.2	37	c.1297	CCDS8699.1	12	.	.	.	.	.	.	.	.	.	.	C	16.51	3.142456	0.57044	.	.	ENSG00000134532	ENST00000546136;ENST00000309359;ENST00000451604;ENST00000435266;ENST00000537393;ENST00000396007;ENST00000545921	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	5.52	5.52	0.82312	.	0.119729	0.56097	D	0.000027	T	0.37128	0.0992	N	0.19112	0.55	0.80722	D	1	B;B;P	0.36837	0.137;0.136;0.571	B;B;B	0.34385	0.091;0.09;0.181	T	0.31668	-0.9935	10	0.54805	T	0.06	.	19.4403	0.94817	0.0:1.0:0.0:0.0	.	398;433;47	F5H0I3;P35711;P35711-3	.;SOX5_HUMAN;.	F	420;420;433;385;398;47;423	ENSP00000437487:V420F;ENSP00000308927:V420F;ENSP00000398273:V433F;ENSP00000439832:V398F;ENSP00000379328:V47F;ENSP00000443520:V423F	ENSP00000308927:V420F	V	-	1	0	SOX5	23619907	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.452000	0.60054	2.605000	0.88082	0.591000	0.81541	GTC	-	NULL		0.478	SOX5-002	KNOWN	basic|CCDS	protein_coding	SOX5	protein_coding	OTTHUMT00000402006.2	C	NM_006940		23619907	-1	no_errors	NM_006940	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
TM9SF1	10548	genome.wustl.edu	37	14	24658788	24658788	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr14:24658788A>C	ENST00000261789.4	-	6	2012	c.1654T>G	c.(1654-1656)Ttc>Gtc	p.F552V	RP11-468E2.2_ENST00000561419.1_Missense_Mutation_p.F88L|TM9SF1_ENST00000524835.1_Missense_Mutation_p.F465V|IPO4_ENST00000354464.6_5'Flank|TM9SF1_ENST00000528669.1_Missense_Mutation_p.F535V|TM9SF1_ENST00000556387.1_Missense_Mutation_p.F761V|TM9SF1_ENST00000530611.1_Missense_Mutation_p.F761V	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	552					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		GCATAATAGAAAACTGAGTAG	0.527																																																0			14											70.0	75.0	73.0					14																	24658788		2203	4300	6503	23728628	SO:0001583	missense	10548			U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.1654T>G	14.37:g.24658788A>C	ENSP00000261789:p.Phe552Val		23728628	D3DS65|Q86SZ6|Q96FI8	Missense_Mutation	SNP	HMMPfam_EMP70	p.F552V	ENST00000261789.4	37	c.1654	CCDS9617.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	28.1|28.1	4.887938|4.887938	0.91814|0.91814	.|.	.|.	ENSG00000100926|ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000100926;ENSG00000254692	ENST00000532632|ENST00000261789;ENST00000528669;ENST00000556387;ENST00000524835;ENST00000530611	T|T;T;T;T;T	0.54675|0.44482	0.56|0.92;0.92;0.92;0.92;0.92	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.57873|0.57873	0.2083|0.2083	M|M	0.77486|0.77486	2.375|2.375	0.80722|0.80722	D|D	1|1	.|P	.|0.38677	.|0.642	.|P	.|0.48488	.|0.579	T|T	0.60485|0.60485	-0.7254|-0.7254	8|10	0.87932|0.59425	D|D	0|0.04	-19.0519|-19.0519	14.7743|14.7743	0.69713|0.69713	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|552	.|O15321	.|TM9S1_HUMAN	C|V	119|552;535;761;465;761	ENSP00000436486:F119C|ENSP00000261789:F552V;ENSP00000432997:F535V;ENSP00000451949:F761V;ENSP00000434387:F465V;ENSP00000433967:F761V	ENSP00000436486:F119C|ENSP00000433967:F761V	F|F	-|-	2|1	0|0	TM9SF1|TM9SF1;RP11-468E2.1	23728628|23728628	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	6.063000|6.063000	0.71162|0.71162	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	TTT|TTC	-	HMMPfam_EMP70		0.527	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	TM9SF1	protein_coding	OTTHUMT00000073136.2	A	NM_006405		23728628	-1	no_errors	NM_006405	genbank	human	validated	54_36p	missense	SNP	0.998	C
SUPT6H	6830	genome.wustl.edu	37	17	27010682	27010682	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr17:27010682T>A	ENST00000314616.6	+	17	2360	c.2077T>A	c.(2077-2079)Tac>Aac	p.Y693N	SUPT6H_ENST00000347486.4_Missense_Mutation_p.Y693N	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	693	Interaction with KDM6A. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AAAACAGTTTTACTACCGAGA	0.498																																																0			17											93.0	87.0	89.0					17																	27010682		2203	4300	6503	24034809	SO:0001583	missense	6830			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.2077T>A	17.37:g.27010682T>A	ENSP00000319104:p.Tyr693Asn		24034809	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	HMMPfam_Tex_N,HMMSmart_SM00732,superfamily_Nucleic acid-binding proteins,HMMSmart_SM00316,HMMPfam_S1,superfamily_SH2 domain,HMMSmart_SM00252	p.Y693N	ENST00000314616.6	37	c.2077	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	T	21.5	4.164563	0.78339	.	.	ENSG00000109111	ENST00000314616	T	0.45668	0.89	5.39	5.39	0.77823	Tex-like domain (1);	0.126346	0.56097	D	0.000032	T	0.66665	0.2812	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.71902	-0.4452	10	0.72032	D	0.01	-4.7306	15.4577	0.75327	0.0:0.0:0.0:1.0	.	693	Q7KZ85	SPT6H_HUMAN	N	693	ENSP00000319104:Y693N	ENSP00000319104:Y693N	Y	+	1	0	SUPT6H	24034809	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.662000	0.83803	2.067000	0.61834	0.529000	0.55759	TAC	-	NULL		0.498	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	protein_coding	OTTHUMT00000446422.2	T	NM_003170		24034809	+1	no_errors	NM_003170	genbank	human	validated	54_36p	missense	SNP	1.000	A
CASC1	55259	genome.wustl.edu	37	12	25272124	25272124	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr12:25272124C>A	ENST00000320267.9	-	11	1414	c.1333G>T	c.(1333-1335)Gta>Tta	p.V445L	CASC1_ENST00000537577.1_Missense_Mutation_p.V333L|CASC1_ENST00000395987.3_Missense_Mutation_p.V451L|CASC1_ENST00000545133.1_Missense_Mutation_p.V386L|CASC1_ENST00000354189.5_Missense_Mutation_p.V509L|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000395990.2_Missense_Mutation_p.V405L	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	445										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			AAAAAGATTACATTCTCATGA	0.373																																																0			12											109.0	100.0	103.0					12																	25272124		2203	4300	6503	25163391	SO:0001583	missense	55259			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.1333G>T	12.37:g.25272124C>A	ENSP00000313141:p.Val445Leu		25163391	B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	NULL	p.V451L	ENST00000320267.9	37	c.1351	CCDS41762.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.04|15.04	2.716260|2.716260	0.48622|0.48622	.|.	.|.	ENSG00000118307|ENSG00000118307	ENST00000556006|ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000395992;ENST00000545133;ENST00000389246	.|T;T;T;T;T	.|0.53423	.|0.62;1.23;1.22;0.63;0.63	5.13|5.13	5.13|5.13	0.70059|0.70059	.|Casc1 domain (1);	.|0.130009	.|0.51477	.|D	.|0.000082	T|T	0.67692|0.67692	0.2920|0.2920	M|M	0.80422|0.80422	2.495|2.495	0.20489|0.20489	N|N	0.999893|0.999893	.|D;D;D;D;D	.|0.71674	.|0.992;0.992;0.998;0.994;0.992	.|P;P;D;P;P	.|0.66979	.|0.83;0.765;0.948;0.888;0.822	T|T	0.62058|0.62058	-0.6934|-0.6934	5|10	.|0.31617	.|T	.|0.26	-16.8995|-16.8995	15.328|15.328	0.74182|0.74182	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|333;386;509;445;451	.|F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9	.|.;.;.;CASC1_HUMAN;.	F|L	281|509;451;445;405;333;451;386;255	.|ENSP00000346126:V509L;ENSP00000379310:V451L;ENSP00000313141:V445L;ENSP00000379313:V405L;ENSP00000437373:V386L	.|ENSP00000313141:V445L	C|V	-|-	2|1	0|0	CASC1|CASC1	25163391|25163391	0.883000|0.883000	0.30277|0.30277	0.075000|0.075000	0.20258|0.20258	0.202000|0.202000	0.24057|0.24057	3.518000|3.518000	0.53451|0.53451	2.386000|2.386000	0.81285|0.81285	0.650000|0.650000	0.86243|0.86243	TGT|GTA	-	NULL		0.373	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASC1	protein_coding	OTTHUMT00000316761.1	C	NM_018272		25163391	-1	no_errors	NM_018272	genbank	human	validated	54_36p	missense	SNP	0.138	A
KIF3C	3797	genome.wustl.edu	37	2	26204291	26204291	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:26204291C>G	ENST00000264712.3	-	1	1075	c.496G>C	c.(496-498)Gag>Cag	p.E166Q	KIF3C_ENST00000405914.1_Missense_Mutation_p.E166Q	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	166	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTTTCAGCTCTAGCCTCTTG	0.547																																																0			2											87.0	95.0	92.0					2																	26204291		2203	4300	6503	26057795	SO:0001583	missense	3797				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.496G>C	2.37:g.26204291C>G	ENSP00000264712:p.Glu166Gln		26057795	O43544|Q4ZG18|Q53SX5|Q562F7	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin,PatternScan_RIBOSOMAL_L2,PatternScan_KINESIN_MOTOR_DOMAIN1	p.E166Q	ENST00000264712.3	37	c.496	CCDS1719.1	2	.	.	.	.	.	.	.	.	.	.	C	15.30	2.791780	0.50102	.	.	ENSG00000084731	ENST00000264712;ENST00000405914	T;T	0.75260	-0.92;-0.92	5.62	4.75	0.60458	Kinesin, motor domain (4);	0.099308	0.64402	D	0.000002	T	0.77725	0.4173	L	0.38531	1.155	0.80722	D	1	B;P	0.48503	0.158;0.911	B;P	0.61003	0.185;0.882	T	0.77920	-0.2407	10	0.49607	T	0.09	.	12.3981	0.55397	0.0:0.9183:0.0:0.0817	.	166;166	B7ZM25;O14782	.;KIF3C_HUMAN	Q	166	ENSP00000264712:E166Q;ENSP00000385030:E166Q	ENSP00000264712:E166Q	E	-	1	0	KIF3C	26057795	1.000000	0.71417	0.913000	0.36048	0.972000	0.66771	7.818000	0.86416	1.376000	0.46267	0.563000	0.77884	GAG	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin		0.547	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3C	protein_coding	OTTHUMT00000211611.1	C			26057795	-1	no_errors	NM_002254	genbank	human	validated	54_36p	missense	SNP	1.000	G
DRC1	92749	genome.wustl.edu	37	2	26667807	26667807	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:26667807A>T	ENST00000288710.2	+	10	1461	c.1387A>T	c.(1387-1389)Atg>Ttg	p.M463L	DRC1_ENST00000483675.1_3'UTR	NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	463					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											AGAAATGCTTATGCGCTCAGG	0.522																																																0			2											50.0	46.0	47.0					2																	26667807		2203	4300	6503	26521311	SO:0001583	missense	92749			AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1387A>T	2.37:g.26667807A>T	ENSP00000288710:p.Met463Leu		26521311	A8K1N8|Q53R91|Q53TA3|Q8NDI5	Missense_Mutation	SNP	NULL	p.M463L	ENST00000288710.2	37	c.1387	CCDS1723.1	2	.	.	.	.	.	.	.	.	.	.	A	0.010	-1.753347	0.00663	.	.	ENSG00000157856	ENST00000288710	T	0.12672	2.66	5.0	-3.29	0.05017	.	1.027930	0.07641	N	0.930347	T	0.05410	0.0143	N	0.04018	-0.295	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43925	-0.9361	10	0.23302	T	0.38	-10.7825	7.5702	0.27902	0.2564:0.5065:0.0:0.2371	.	463	Q96MC2	CC164_HUMAN	L	463	ENSP00000288710:M463L	ENSP00000288710:M463L	M	+	1	0	CCDC164	26521311	0.003000	0.15002	0.069000	0.20011	0.002000	0.02628	-0.448000	0.06820	-0.321000	0.08627	-0.418000	0.06021	ATG	-	NULL		0.522	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf39	protein_coding	OTTHUMT00000246862.1	A	NM_145038		26521311	+1	no_errors	NM_145038	genbank	human	validated	54_36p	missense	SNP	0.046	T
ZNF204P	7754	genome.wustl.edu	37	6	27326026	27326026	+	IGR	SNP	T	T	C	rs373779307		TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr6:27326026T>C								POM121L2 (46077 upstream) : ZNF391 (16367 downstream)																							AGGTTTTTATTGTTGTAAAAA	0.353																																																0			6																																								27434005	SO:0001628	intergenic_variant	7754																															6.37:g.27326026T>C			27434005		RNA	SNP	-	NULL		37	NULL		6																																																																																			-	-	0	0.353					ZNF204			T			27434005	-1	pseudogene	NR_002722	genbank	human	validated	54_36p	rna	SNP	0.000	C
TRAPPC8	22878	genome.wustl.edu	37	18	29480957	29480957	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr18:29480957G>T	ENST00000283351.4	-	10	1756	c.1421C>A	c.(1420-1422)cCa>cAa	p.P474Q	TRAPPC8_ENST00000582513.1_Missense_Mutation_p.P474Q|TRAPPC8_ENST00000582539.1_Missense_Mutation_p.P420Q	NM_014939.3	NP_055754	Q9Y2L5	TPPC8_HUMAN	trafficking protein particle complex 8	474					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(7)|liver(2)|lung(13)|ovary(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGGTGCTCCTGGTTGAAGAAA	0.353																																																0			18											85.0	82.0	83.0					18																	29480957		2203	4300	6503	27734955	SO:0001583	missense	22878			AB023229	CCDS11901.1	18q12.1	2011-10-10	2010-06-29	2010-06-29	ENSG00000153339	ENSG00000153339		"""Trafficking protein particle complex"""	29169	protein-coding gene	gene with protein product	"""general sporulation gene 1 homolog (S. cerevisiae)"""	614136	"""KIAA1012"""	KIAA1012		10231032, 11230166	Standard	NM_014939		Approved	HsT2706, TRS85, GSG1	uc002kxc.4	Q9Y2L5	OTTHUMG00000132267	ENST00000283351.4:c.1421C>A	18.37:g.29480957G>T	ENSP00000283351:p.Pro474Gln		27734955	A0JP15|B3KME5|Q9H0L2	Missense_Mutation	SNP	superfamily_TPR-like	p.P474Q	ENST00000283351.4	37	c.1421	CCDS11901.1	18	.	.	.	.	.	.	.	.	.	.	G	12.83	2.055416	0.36277	.	.	ENSG00000153339	ENST00000283351	T	0.15487	2.42	5.5	4.61	0.57282	.	0.440472	0.26119	N	0.026236	T	0.26484	0.0647	L	0.55990	1.75	0.41969	D	0.990749	P;P	0.52316	0.843;0.952	B;P	0.51229	0.423;0.663	T	0.03043	-1.1079	10	0.21540	T	0.41	-2.7626	16.0239	0.80528	0.0:0.0:0.8645:0.1355	.	474;474	Q6PCC9;Q9Y2L5	.;TPPC8_HUMAN	Q	474	ENSP00000283351:P474Q	ENSP00000283351:P474Q	P	-	2	0	TRAPPC8	27734955	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.056000	0.57448	1.432000	0.47375	0.644000	0.83932	CCA	-	NULL		0.353	TRAPPC8-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	KIAA1012	protein_coding	OTTHUMT00000255355.1	G	NM_014939		27734955	-1	no_errors	NM_014939	genbank	human	validated	54_36p	missense	SNP	1.000	T
SULT1A1	6817	genome.wustl.edu	37	16	28620166	28620166	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr16:28620166A>G	ENST00000395607.1	-	2	284	c.11T>C	c.(10-12)aTc>aCc	p.I4T	SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000569554.1_Missense_Mutation_p.I4T|SULT1A1_ENST00000395609.1_Missense_Mutation_p.I4T|SULT1A1_ENST00000314752.7_Missense_Mutation_p.I4T	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	4					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	GGTGTCCTGGATCAGCTCCAT	0.602																																																0			16											63.0	64.0	64.0					16																	28620166		2197	4300	6497	28527667	SO:0001583	missense	6817			U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"""Sulfotransferases, cytosolic"""	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.11T>C	16.37:g.28620166A>G	ENSP00000378971:p.Ile4Thr		28527667	Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1	p.I4T	ENST00000395607.1	37	c.11	CCDS32420.1	16	.	.	.	.	.	.	.	.	.	.	.	3.247	-0.154184	0.06585	.	.	ENSG00000196502	ENST00000314752;ENST00000395609;ENST00000395607	T;T;T	0.01446	4.88;4.88;4.88	2.5	-0.144	0.13440	.	1.832630	0.02404	N	0.080967	T	0.01124	0.0037	N	0.08118	0	0.09310	N	1	B	0.18863	0.031	B	0.15484	0.013	T	0.45011	-0.9290	10	0.12430	T	0.62	.	3.1642	0.06530	0.5151:0.2458:0.0:0.239	.	4	P50225	ST1A1_HUMAN	T	4	ENSP00000321988:I4T;ENSP00000378972:I4T;ENSP00000378971:I4T	ENSP00000321988:I4T	I	-	2	0	SULT1A1	28527667	0.000000	0.05858	0.000000	0.03702	0.063000	0.16089	-0.164000	0.09983	-0.047000	0.13423	0.254000	0.18369	ATC	-	NULL		0.602	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SULT1A1	protein_coding	OTTHUMT00000254694.2	A	NM_001055		28527667	-1	no_errors	NM_001055	genbank	human	reviewed	54_36p	missense	SNP	0.005	G
ALK	238	genome.wustl.edu	37	2	29445407	29445407	+	Silent	SNP	T	T	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:29445407T>G	ENST00000389048.3	-	21	4332	c.3426A>C	c.(3424-3426)ccA>ccC	p.P1142P	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1142	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	GCAGGGGGCTTGGGTCGTTGG	0.592			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																													yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	0			2											56.0	56.0	56.0					2																	29445407		2203	4300	6503	29298911	SO:0001819	synonymous_variant	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.3426A>C	2.37:g.29445407T>G			29298911	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Silent	SNP	superfamily_LDL receptor-like module,HMMSmart_SM00192,HMMPfam_MAM,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR,PatternScan_RECEPTOR_TYR_KIN_II	p.P1142	ENST00000389048.3	37	c.3426	CCDS33172.1	2																																																																																			-	superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP		0.592	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	protein_coding	OTTHUMT00000324994.1	T	NM_004304		29298911	-1	no_errors	NM_004304	genbank	human	reviewed	54_36p	silent	SNP	0.503	G
TCN2	6948	genome.wustl.edu	37	22	31006918	31006918	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr22:31006918T>C	ENST00000215838.3	+	2	619	c.125T>C	c.(124-126)aTg>aCg	p.M42T	TCN2_ENST00000405742.3_Missense_Mutation_p.M42T|TCN2_ENST00000407817.3_Missense_Mutation_p.M42T			P20062	TCO2_HUMAN	transcobalamin II	42					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	cobalamin binding (GO:0031419)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTACCTTGGATGGACCGGCTT	0.537																																																0			22											163.0	154.0	157.0					22																	31006918		2203	4300	6503	29336918	SO:0001583	missense	6948				CCDS13881.1, CCDS54519.1	22q12.2	2014-09-17	2010-05-11		ENSG00000185339	ENSG00000185339			11653	protein-coding gene	gene with protein product	"""macrocytic anemia"""	613441	"""transcobalamin II; macrocytic anemia"""			1708393, 7742531	Standard	NM_000355		Approved	D22S676, D22S750, TC2	uc003aip.2	P20062	OTTHUMG00000151095	ENST00000215838.3:c.125T>C	22.37:g.31006918T>C	ENSP00000215838:p.Met42Thr		29336918	Q96FD4|Q9BVI8|Q9UCI5|Q9UCI6|Q9UDM0	Missense_Mutation	SNP	HMMPfam_Cobalamin_bind,PatternScan_COBALAMIN_BINDING	p.M42T	ENST00000215838.3	37	c.125	CCDS13881.1	22	.	.	.	.	.	.	.	.	.	.	T	17.94	3.511449	0.64522	.	.	ENSG00000185339	ENST00000215838;ENST00000423350;ENST00000405742;ENST00000407817	T;T;T;T	0.36520	1.36;1.36;1.36;1.25	6.16	6.16	0.99307	.	0.429674	0.31071	N	0.008302	T	0.49660	0.1570	L	0.50333	1.59	0.80722	D	1	P;P;P	0.48589	0.801;0.912;0.912	P;D;D	0.76071	0.673;0.987;0.987	T	0.43718	-0.9374	10	0.02654	T	1	-20.4497	14.3293	0.66545	0.0:0.0:0.0:1.0	.	42;42;42	Q96FD4;B5MBX2;P20062	.;.;TCO2_HUMAN	T	42	ENSP00000215838:M42T;ENSP00000411529:M42T;ENSP00000385914:M42T;ENSP00000384914:M42T	ENSP00000215838:M42T	M	+	2	0	TCN2	29336918	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	2.526000	0.45607	2.367000	0.80283	0.528000	0.53228	ATG	-	HMMPfam_Cobalamin_bind		0.537	TCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCN2	protein_coding	OTTHUMT00000321282.2	T	NM_000355		29336918	+1	no_errors	NM_000355	genbank	human	reviewed	54_36p	missense	SNP	0.996	C
KRTAP6-1	337966	genome.wustl.edu	37	21	31986188	31986188	+	Silent	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr21:31986188G>T	ENST00000329122.2	-	1	61	c.36C>A	c.(34-36)acC>acA	p.T12T	KRTAP20-1_ENST00000334664.2_5'Flank	NM_181602.1	NP_853633.1	Q3LI64	KRA61_HUMAN	keratin associated protein 6-1	12						cytosol (GO:0005829)|intermediate filament (GO:0005882)				breast(2)|endometrium(1)|lung(7)	10						CATAGCCAGGGGTGCCATAGT	0.562																																																0			21											202.0	195.0	197.0					21																	31986188		2203	4300	6503	30908059	SO:0001819	synonymous_variant	337966			AP001708	CCDS13602.1	21q22.1	2006-03-13			ENSG00000184724	ENSG00000184724		"""Keratin associated proteins"""	18931	protein-coding gene	gene with protein product						12359730	Standard	NM_181602		Approved	KAP6.1, C21orf103	uc002yop.3	Q3LI64	OTTHUMG00000057788	ENST00000329122.2:c.36C>A	21.37:g.31986188G>T			30908059		Silent	SNP	NULL	p.T12	ENST00000329122.2	37	c.36	CCDS13602.1	21																																																																																			-	NULL		0.562	KRTAP6-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP6-1	protein_coding	OTTHUMT00000128240.2	G	NM_181602		30908059	-1	no_errors	NM_181602	genbank	human	validated	54_36p	silent	SNP	0.077	T
DDX11	1663	genome.wustl.edu	37	12	31250875	31250875	+	Missense_Mutation	SNP	G	G	C	rs145461857	byFrequency	TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr12:31250875G>C	ENST00000407793.2	+	18	2070	c.1819G>C	c.(1819-1821)Gcc>Ccc	p.A607P	DDX11_ENST00000350437.4_Missense_Mutation_p.A607P|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000542838.1_Missense_Mutation_p.A607P|DDX11_ENST00000545668.1_Missense_Mutation_p.A607P|DDX11_ENST00000228264.6_Missense_Mutation_p.A581P|DDX11_ENST00000539673.1_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	607					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|sister chromatid cohesion (GO:0007062)|viral process (GO:0016032)	midbody (GO:0030496)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA-dependent ATPase activity (GO:0008094)|double-stranded DNA binding (GO:0003690)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)	p.A607P(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGTGCACTTTGCCCAAGTGGT	0.582										Multiple Myeloma(12;0.14)																																						2	Substitution - Missense(2)	large_intestine(1)|lung(1)	12											62.0	66.0	64.0					12																	31250875		2202	4297	6499	31142142	SO:0001583	missense	1663			U75969	CCDS8721.1, CCDS41767.1, CCDS44856.1, CCDS58224.1	12p11.21	2012-02-23	2012-02-23		ENSG00000013573	ENSG00000013573		"""DEAD-boxes"""	2736	protein-coding gene	gene with protein product	"""CHL1-like helicase homolog (S. cerevisiae)"""	601150	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (S.cerevisiae CHL1-like helicase)"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11"""				Standard	NM_030653		Approved	CHLR1, KRG2, CHL1, ChlR1, WABS	uc001rjv.2	Q96FC9	OTTHUMG00000168435	ENST00000407793.2:c.1819G>C	12.37:g.31250875G>C	ENSP00000384703:p.Ala607Pro		31142142	Q13333|Q86VQ4|Q86W62|Q92498|Q92770|Q92998|Q92999	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00488,HMMPfam_DEAD_2,HMMSmart_SM00491	p.A607P	ENST00000407793.2	37	c.1819	CCDS44856.1	12	.	.	.	.	.	.	.	.	.	.	G	15.45	2.836789	0.50951	.	.	ENSG00000013573	ENST00000542838;ENST00000407793;ENST00000404673;ENST00000228264;ENST00000545668;ENST00000350437	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	3.23	2.32	0.28847	.	0.107907	0.64402	D	0.000006	T	0.51787	0.1695	M	0.85299	2.745	0.80722	D	1	D;D;D;D	0.69078	0.988;0.997;0.989;0.988	P;D;D;P	0.66084	0.868;0.921;0.941;0.868	T	0.50118	-0.8865	10	0.41790	T	0.15	.	8.4401	0.32810	0.1232:0.0:0.8768:0.0	.	581;607;607;607	Q96FC9-3;Q96FC9;Q96FC9-4;Q96FC9-2	.;DDX11_HUMAN;.;.	P	607;607;332;581;607;607	ENSP00000443426:A607P;ENSP00000384703:A607P;ENSP00000228264:A581P;ENSP00000440402:A607P;ENSP00000309965:A607P	ENSP00000228264:A581P	A	+	1	0	DDX11	31142142	1.000000	0.71417	0.993000	0.49108	0.638000	0.38207	5.546000	0.67243	0.536000	0.28733	0.505000	0.49811	GCC	-	NULL		0.582	DDX11-202	KNOWN	basic|CCDS	protein_coding	DDX11	protein_coding	OTTHUMT00000399728.1	G	NM_030653		31142142	+1	no_errors	NM_152438	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
PDE1C	5137	genome.wustl.edu	37	7	31904678	31904678	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr7:31904678C>A	ENST00000396191.1	-	7	1083	c.628G>T	c.(628-630)Gtc>Ttc	p.V210F	PDE1C_ENST00000321453.7_Missense_Mutation_p.V210F|PDE1C_ENST00000396182.2_Missense_Mutation_p.V210F|PDE1C_ENST00000396193.1_Missense_Mutation_p.V270F|PDE1C_ENST00000396184.3_Missense_Mutation_p.V210F	NM_001191057.1	NP_001177986.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	210	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)	cytosol (GO:0005829)	calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)		Caffeine(DB00201)	ACAAATGAGACAAGTGCAGAA	0.453																																																0			7											132.0	118.0	123.0					7																	31904678		2203	4300	6503	31871203	SO:0001583	missense	5137			U40371	CCDS5437.1, CCDS55099.1, CCDS55100.1	7p15.1-p14.3	2008-05-15	2002-08-29		ENSG00000154678	ENSG00000154678	3.1.4.17	"""Phosphodiesterases"""	8776	protein-coding gene	gene with protein product		602987	"""phosphodiesterase 1C, calmodulin-dependent (70kD)"""			8557689	Standard	XM_005249769		Approved	Hcam3	uc003tco.2	Q14123	OTTHUMG00000023836	ENST00000396191.1:c.628G>T	7.37:g.31904678C>A	ENSP00000379494:p.Val210Phe		31871203	B3KPC6|E9PE92|Q14124|Q8NB10	Missense_Mutation	SNP	HMMPfam_PDEase_I_N,superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I	p.V210F	ENST00000396191.1	37	c.628	CCDS55099.1	7	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933829	0.73442	.	.	ENSG00000154678	ENST00000396193;ENST00000396191;ENST00000321453;ENST00000396184;ENST00000396182	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	5.88	5.88	0.94601	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	T	0.82235	0.4993	L	0.33137	0.985	0.80722	D	1	D;D;D	0.65815	0.98;0.992;0.995	P;D;P	0.64237	0.823;0.923;0.856	T	0.79546	-0.1759	10	0.33940	T	0.23	.	19.8116	0.96549	0.0:1.0:0.0:0.0	.	210;270;210	Q14123-2;E9PE92;Q14123	.;.;PDE1C_HUMAN	F	270;210;210;210;210	ENSP00000379496:V270F;ENSP00000379494:V210F;ENSP00000318105:V210F;ENSP00000379487:V210F;ENSP00000379485:V210F	ENSP00000318105:V210F	V	-	1	0	PDE1C	31871203	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.086000	0.71352	2.781000	0.95711	0.591000	0.81541	GTC	-	superfamily_SSF109604		0.453	PDE1C-006	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	PDE1C	protein_coding	OTTHUMT00000328458.1	C			31871203	-1	no_errors	NM_005020	genbank	human	provisional	54_36p	missense	SNP	1.000	A
IQCC	55721	genome.wustl.edu	37	1	32673259	32673259	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr1:32673259G>C	ENST00000291358.6	+	5	998	c.977G>C	c.(976-978)aGa>aCa	p.R326T	IQCC_ENST00000537469.1_Missense_Mutation_p.R406T|RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA|DCDC2B_ENST00000409358.1_5'Flank	NM_018134.2	NP_060604.2	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	326										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CAGACCCCCAGAGGTTTAAAA	0.522																																																0			1											53.0	60.0	57.0					1																	32673259		2203	4300	6503	32445846	SO:0001583	missense	55721			AL049795	CCDS355.1, CCDS53293.1	1p36.11-p34.2	2008-02-05			ENSG00000160051	ENSG00000160051			25545	protein-coding gene	gene with protein product							Standard	NM_018134		Approved	FLJ10547	uc001bum.2	Q4KMZ1	OTTHUMG00000005739	ENST00000291358.6:c.977G>C	1.37:g.32673259G>C	ENSP00000291358:p.Arg326Thr		32445846	F5H7T8|Q4KMS3|Q4KMZ5|Q53FL2|Q5TFJ8|Q9NVS3	Missense_Mutation	SNP	HMMPfam_IQ	p.R326T	ENST00000291358.6	37	c.977	CCDS355.1	1	.	.	.	.	.	.	.	.	.	.	G	11.89	1.772466	0.31411	.	.	ENSG00000160051	ENST00000537469;ENST00000291358	T;T	0.12039	2.72;2.72	3.98	-0.367	0.12541	.	0.796371	0.11277	N	0.580756	T	0.06962	0.0177	N	0.14661	0.345	0.09310	N	1	B;B	0.17268	0.021;0.021	B;B	0.18871	0.023;0.007	T	0.34750	-0.9816	10	0.49607	T	0.09	-1.0E-4	4.0326	0.09716	0.2912:0.1982:0.5106:0.0	.	406;326	F5H7T8;Q4KMZ1	.;IQCC_HUMAN	T	406;326	ENSP00000442291:R406T;ENSP00000291358:R326T	ENSP00000291358:R326T	R	+	2	0	IQCC	32445846	0.000000	0.05858	0.000000	0.03702	0.024000	0.10985	0.187000	0.16998	-0.057000	0.13199	0.491000	0.48974	AGA	-	NULL		0.522	IQCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCC	protein_coding	OTTHUMT00000015731.3	G	NM_018134		32445846	+1	no_errors	NM_018134	genbank	human	provisional	54_36p	missense	SNP	0.000	C
NFX1	4799	genome.wustl.edu	37	9	33295023	33295023	+	Missense_Mutation	SNP	G	G	T	rs372624000		TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr9:33295023G>T	ENST00000379540.3	+	2	693	c.631G>T	c.(631-633)Gtg>Ttg	p.V211L	NFX1_ENST00000318524.6_Missense_Mutation_p.V211L|NFX1_ENST00000379521.4_Missense_Mutation_p.V211L	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	211					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TACCAAACCTGTGGGGGTTTT	0.483																																																0			9											88.0	93.0	91.0					9																	33295023		2203	4300	6503	33285023	SO:0001583	missense	4799			U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.631G>T	9.37:g.33295023G>T	ENSP00000368856:p.Val211Leu		33285023	A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	superfamily_RING/U-box,HMMSmart_SM00184,PatternScan_ZF_PHD_1,HMMPfam_zf-C3HC4,HMMPfam_zf-NF-X1,HMMSmart_SM00438,HMMSmart_SM00393,superfamily_R3H domain,HMMPfam_R3H	p.V211L	ENST00000379540.3	37	c.631	CCDS6538.1	9	.	.	.	.	.	.	.	.	.	.	G	9.560	1.118308	0.20877	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.48522	0.81;0.81;0.81	5.48	2.55	0.30701	.	0.623389	0.15289	N	0.270287	T	0.24661	0.0598	N	0.12182	0.205	0.20873	N	0.999838	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.001	B;B;B;B;B	0.06405	0.001;0.0;0.0;0.002;0.001	T	0.23404	-1.0189	10	0.08381	T	0.77	.	9.0712	0.36493	0.0795:0.4246:0.496:0.0	.	211;95;211;211;211	F5GXD0;A0JLR2;Q12986;Q12986-2;Q12986-3	.;.;NFX1_HUMAN;.;.	L	211	ENSP00000368856:V211L;ENSP00000368836:V211L;ENSP00000317695:V211L	ENSP00000317695:V211L	V	+	1	0	NFX1	33285023	0.247000	0.23920	0.922000	0.36590	0.858000	0.48976	0.055000	0.14229	0.250000	0.21479	0.551000	0.68910	GTG	-	NULL		0.483	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFX1	protein_coding	OTTHUMT00000052069.1	G			33285023	+1	no_errors	NM_002504	genbank	human	reviewed	54_36p	missense	SNP	0.008	T
ANXA2P2	304	genome.wustl.edu	37	9	33625145	33625145	+	IGR	SNP	A	A	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr9:33625145A>G								TRBV20OR9-2 (6641 upstream) : TRBV21OR9-2 (3973 downstream)																							GATCAGAATCATGGTCTCCCG	0.483																																																0			9																																								33615145	SO:0001628	intergenic_variant	0																															9.37:g.33625145A>G			33615145		RNA	SNP	-	NULL		37	NULL		9																																																																																			-	-	0	0.483					ANXA2P2			A			33615145	+1	pseudogene	NR_003573	genbank	human	validated	54_36p	rna	SNP	1.000	G
LGALS2	3957	genome.wustl.edu	37	22	37966627	37966627	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr22:37966627G>C	ENST00000215886.4	-	3	379	c.205C>G	c.(205-207)Caa>Gaa	p.Q69E		NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2	69	Beta-galactoside binding. {ECO:0000255}.|Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.						carbohydrate binding (GO:0030246)|galactoside binding (GO:0016936)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					TCTTCCCGTTGTTCTTGCCCC	0.582																																					GBM(193;1840 2185 13711 20676 24505)											0			22											204.0	176.0	186.0					22																	37966627		2203	4300	6503	36296573	SO:0001583	missense	3957				CCDS13950.1	22q13.1	2011-08-04	2007-02-01		ENSG00000100079	ENSG00000100079		"""Lectins, galactoside-binding"""	6562	protein-coding gene	gene with protein product	"""galectin 2"""	150571				1988031, 15356130	Standard	NM_006498		Approved	HL14	uc003ata.3	P05162	OTTHUMG00000150590	ENST00000215886.4:c.205C>G	22.37:g.37966627G>C	ENSP00000215886:p.Gln69Glu		36296573	Q6FGY4	Missense_Mutation	SNP	superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Gal-bind_lectin,HMMSmart_SM00276	p.Q69E	ENST00000215886.4	37	c.205	CCDS13950.1	22	.	.	.	.	.	.	.	.	.	.	G	14.50	2.552600	0.45487	.	.	ENSG00000100079	ENST00000215886	T	0.04234	3.67	5.97	4.9	0.64082	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.745739	0.14006	N	0.347814	T	0.04182	0.0116	L	0.28740	0.885	0.41367	D	0.987461	P	0.38565	0.637	B	0.31495	0.131	T	0.57242	-0.7845	10	0.16420	T	0.52	0.0036	15.1147	0.72392	0.0:0.0:0.8581:0.1419	.	69	P05162	LEG2_HUMAN	E	69	ENSP00000215886:Q69E	ENSP00000215886:Q69E	Q	-	1	0	LGALS2	36296573	0.996000	0.38824	0.981000	0.43875	0.637000	0.38172	1.956000	0.40382	2.828000	0.97474	0.655000	0.94253	CAA	-	superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Gal-bind_lectin,HMMSmart_SM00276		0.582	LGALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS2	protein_coding	OTTHUMT00000318991.1	G	NM_006498		36296573	-1	no_errors	NM_006498	genbank	human	reviewed	54_36p	missense	SNP	0.746	C
POSTN	10631	genome.wustl.edu	37	13	38171407	38171407	+	Silent	SNP	A	A	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr13:38171407A>G	ENST00000379747.4	-	2	249	c.132T>C	c.(130-132)tgT>tgC	p.C44C	POSTN_ENST00000541481.1_Silent_p.C44C|POSTN_ENST00000379742.4_Silent_p.C44C|POSTN_ENST00000379749.4_Silent_p.C44C|POSTN_ENST00000541179.1_Silent_p.C44C|POSTN_ENST00000379743.4_Silent_p.C44C	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	44	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of Notch signaling pathway (GO:0008593)|skeletal system development (GO:0001501)|tissue development (GO:0009888)	proteinaceous extracellular matrix (GO:0005578)|trans-Golgi network (GO:0005802)	heparin binding (GO:0008201)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		GTTGAAGGGCACAGACATTTG	0.358																																																0			13											91.0	85.0	87.0					13																	38171407		2203	4300	6503	37069407	SO:0001819	synonymous_variant	10631			D13665	CCDS9364.1, CCDS45034.1, CCDS53864.1, CCDS66530.1, CCDS66531.1	13q13.3	2008-02-05			ENSG00000133110	ENSG00000133110			16953	protein-coding gene	gene with protein product		608777				8363580, 12235007	Standard	NM_006475		Approved	OSF-2, PN, periostin	uc001uwo.4	Q15063	OTTHUMG00000016751	ENST00000379747.4:c.132T>C	13.37:g.38171407A>G			37069407	B1ALD8|C0IMJ1|C0IMJ2|C0IMJ4|D2KRH7|F5H628|Q15064|Q29XZ0|Q3KPJ5|Q5VSY5|Q8IZF9	Silent	SNP	HMMPfam_EMI,superfamily_FAS1 domain,HMMPfam_Fasciclin,HMMSmart_SM00554	p.C44	ENST00000379747.4	37	c.132	CCDS9364.1	13																																																																																			-	HMMPfam_EMI		0.358	POSTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	POSTN	protein_coding	OTTHUMT00000044566.2	A	NM_006475		37069407	-1	no_errors	NM_006475	genbank	human	validated	54_36p	silent	SNP	1.000	G
Unknown	0	genome.wustl.edu	37	2	38044325	38044325	+	IGR	SNP	G	G	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:38044325G>C								AC006369.3 (70136 upstream) : LINC00211 (9064 downstream)																							TGTCTTAGGAGATGAATTGAT	0.433																																																0			2																																								37897829	SO:0001628	intergenic_variant	344382																															2.37:g.38044325G>C			37897829		Missense_Mutation	SNP	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.D90H		37	c.268		2																																																																																			-	superfamily_WD40 repeat-like,HMMSmart_SM00320	0	0.433					LOC344382			G			37897829	+1	no_errors	XM_293026	genbank	human	model	54_36p	missense	SNP	1.000	C
DDHD2	23259	genome.wustl.edu	37	8	38107278	38107278	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr8:38107278G>T	ENST00000397166.2	+	11	1826	c.1301G>T	c.(1300-1302)aGa>aTa	p.R434I	DDHD2_ENST00000517385.1_Missense_Mutation_p.R53I|DDHD2_ENST00000520272.2_Missense_Mutation_p.R434I|DDHD2_ENST00000529845.1_5'Flank	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	434	SAM.				cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			TTAGGACCAAGAAAGAAGATA	0.343																																																0			8											75.0	71.0	72.0					8																	38107278		2203	4300	6503	38226435	SO:0001583	missense	23259			AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.1301G>T	8.37:g.38107278G>T	ENSP00000380352:p.Arg434Ile		38226435	B3KWV2|B3KXB5|Q9H8X7	Missense_Mutation	SNP	HMMPfam_WWE,HMMSmart_SM00454,HMMPfam_SAM_1,superfamily_SAM/Pointed domain,HMMPfam_DDHD	p.R434I	ENST00000397166.2	37	c.1301	CCDS34883.1	8	.	.	.	.	.	.	.	.	.	.	G	32	5.105997	0.94292	.	.	ENSG00000085788	ENST00000397166;ENST00000520272;ENST00000440212;ENST00000517385	T;T;T	0.56941	0.43;0.43;0.43	5.5	5.5	0.81552	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.81607	0.4858	H	0.96208	3.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84221	0.0461	10	0.35671	T	0.21	-21.4359	18.7617	0.91855	0.0:0.0:1.0:0.0	.	246;434	B4DSR3;O94830	.;DDHD2_HUMAN	I	434;434;246;53	ENSP00000380352:R434I;ENSP00000429932:R434I;ENSP00000429017:R53I	ENSP00000380352:R434I	R	+	2	0	DDHD2	38226435	1.000000	0.71417	1.000000	0.80357	0.809000	0.45718	9.415000	0.97375	2.744000	0.94065	0.655000	0.94253	AGA	-	HMMSmart_SM00454,HMMPfam_SAM_1,superfamily_SAM/Pointed domain		0.343	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDHD2	protein_coding	OTTHUMT00000377251.2	G	XM_291291		38226435	+1	no_errors	NM_015214	genbank	human	provisional	54_36p	missense	SNP	1.000	T
SLC25A39	51629	genome.wustl.edu	37	17	42399873	42399873	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr17:42399873C>T	ENST00000377095.5	-	5	357	c.238G>A	c.(238-240)Ggt>Agt	p.G80S	SLC25A39_ENST00000537904.2_Missense_Mutation_p.G57S|SLC25A39_ENST00000225308.8_Missense_Mutation_p.G72S|SLC25A39_ENST00000586016.1_Intron|SLC25A39_ENST00000590194.1_Missense_Mutation_p.G72S	NM_001143780.1	NP_001137252.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	80					heme biosynthetic process (GO:0006783)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCCAGGACACCATTGCAATAC	0.572																																																0			17											100.0	80.0	87.0					17																	42399873		2203	4300	6503	39755399	SO:0001583	missense	51629			BC096819	CCDS11482.1, CCDS45700.1	17q12	2013-05-22			ENSG00000013306	ENSG00000013306		"""Solute carriers"""	24279	protein-coding gene	gene with protein product		610820				16949250	Standard	NM_001143780		Approved	FLJ22407, CGI-69	uc002ign.2	Q9BZJ4	OTTHUMG00000132628	ENST00000377095.5:c.238G>A	17.37:g.42399873C>T	ENSP00000366299:p.Gly80Ser		39755399	A8JZZ2|D3DX51|D3DX54|Q4V9M1|Q9P182|Q9UF66|Q9Y379	Missense_Mutation	SNP	superfamily_Mitochondrial carrier,HMMPfam_Mito_carr	p.G72S	ENST00000377095.5	37	c.214	CCDS45700.1	17	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922107	0.92319	.	.	ENSG00000013306	ENST00000225308;ENST00000377095;ENST00000537904	T;T;T	0.81163	-1.46;-1.26;-1.37	5.18	4.22	0.49857	Mitochondrial carrier domain (1);	0.000000	0.85682	D	0.000000	D	0.82407	0.5030	L	0.33339	1.005	0.80722	D	1	D;D;P;D;P	0.76494	0.999;0.995;0.639;0.997;0.889	D;D;P;D;P	0.77004	0.964;0.94;0.734;0.989;0.798	T	0.82408	-0.0472	10	0.54805	T	0.06	-22.5985	9.5467	0.39284	0.142:0.7824:0.0:0.0757	.	65;72;57;80;72	B4DVL9;B4DI93;B4DFG5;Q9BZJ4;Q9BZJ4-2	.;.;.;S2539_HUMAN;.	S	72;80;57	ENSP00000225308:G72S;ENSP00000366299:G80S;ENSP00000444540:G57S	ENSP00000225308:G72S	G	-	1	0	SLC25A39	39755399	0.689000	0.27690	1.000000	0.80357	0.957000	0.61999	1.785000	0.38684	1.419000	0.47118	-0.136000	0.14681	GGT	-	superfamily_Mitochondrial carrier,HMMPfam_Mito_carr		0.572	SLC25A39-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A39	protein_coding	OTTHUMT00000457745.1	C	NM_016016		39755399	-1	no_errors	NM_016016	genbank	human	validated	54_36p	missense	SNP	1.000	T
ITGA2B	3674	genome.wustl.edu	37	17	42453334	42453334	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr17:42453334C>G	ENST00000262407.5	-	25	2499	c.2468G>C	c.(2467-2469)gGg>gCg	p.G823A	ITGA2B_ENST00000353281.4_Missense_Mutation_p.G823A	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	823					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	ATTCACAGTCCCAGGGCCATT	0.632											OREG0024460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			17											69.0	71.0	70.0					17																	42453334		2203	4300	6503	39808860	SO:0001583	missense	3674				CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.2468G>C	17.37:g.42453334C>G	ENSP00000262407:p.Gly823Ala	908	39808860	B2RCY8|O95366|Q14443|Q17R67	Missense_Mutation	SNP	superfamily_Integrin alpha N-terminal domain,HMMSmart_SM00191,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_Integrin domains,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha	p.G823A	ENST00000262407.5	37	c.2468	CCDS32665.1	17	.	.	.	.	.	.	.	.	.	.	C	14.82	2.650801	0.47362	.	.	ENSG00000005961	ENST00000262407;ENST00000353281	T;T	0.43688	0.94;0.94	4.58	4.58	0.56647	Integrin alpha-2 (1);	0.000000	0.35870	N	0.002934	T	0.60495	0.2273	M	0.80028	2.48	0.80722	D	1	D;D	0.58620	0.961;0.983	P;P	0.60286	0.724;0.872	T	0.62253	-0.6893	10	0.40728	T	0.16	.	12.7169	0.57119	0.0:1.0:0.0:0.0	.	421;823	Q59FA8;P08514	.;ITA2B_HUMAN	A	823	ENSP00000262407:G823A;ENSP00000340536:G823A	ENSP00000262407:G823A	G	-	2	0	ITGA2B	39808860	0.020000	0.18652	0.936000	0.37596	0.816000	0.46133	2.952000	0.49097	2.372000	0.80975	0.561000	0.74099	GGG	-	HMMPfam_Integrin_alpha2,superfamily_Integrin domains		0.632	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA2B	protein_coding	OTTHUMT00000439823.1	C			39808860	-1	no_errors	NM_000419	genbank	human	reviewed	54_36p	missense	SNP	0.873	G
ZNF619	285267	genome.wustl.edu	37	3	40525180	40525180	+	Silent	SNP	C	C	T	rs139066653	byFrequency	TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr3:40525180C>T	ENST00000314686.5	+	5	618	c.213C>T	c.(211-213)ggC>ggT	p.G71G	ZNF619_ENST00000456778.1_Intron|ZNF619_ENST00000520737.1_Intron|ZNF619_ENST00000432264.2_Intron|ZNF619_ENST00000522736.1_Silent_p.G78G|ZNF619_ENST00000429348.2_Intron|ZNF619_ENST00000447116.2_Intron|ZNF619_ENST00000521353.1_Intron			Q8N2I2	ZN619_HUMAN	zinc finger protein 619	71					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		agtgcaatggcgtgatcttca	0.433													c|||	27	0.00539137	0.0008	0.0043	5008	,	,		17907	0.0		0.0179	False		,,,				2504	0.0051															0			3																																								40500184	SO:0001819	synonymous_variant	285267			AK075245	CCDS46801.1, CCDS46802.1, CCDS46803.1	3p21.33	2013-01-08			ENSG00000177873	ENSG00000177873		"""Zinc fingers, C2H2-type"", ""-"""	26910	protein-coding gene	gene with protein product							Standard	NM_001145083		Approved	FLJ90764	uc011azb.2	Q8N2I2	OTTHUMG00000131391	ENST00000314686.5:c.213C>T	3.37:g.40525180C>T			40500184	B4E271|C9JRN5|D4PHA2|E9PCD9	Silent	SNP	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.G71	ENST00000314686.5	37	c.213		3																																																																																			-	NULL		0.433	ZNF619-001	KNOWN	basic	protein_coding	ZNF619	protein_coding	OTTHUMT00000254180.2	C	NM_173656		40500184	+1	no_errors	NM_173656	genbank	human	validated	54_36p	silent	SNP	0.011	T
NELL2	4753	genome.wustl.edu	37	12	44913940	44913940	+	Missense_Mutation	SNP	C	C	T	rs372382047		TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr12:44913940C>T	ENST00000429094.2	-	19	2752	c.2248G>A	c.(2248-2250)Gag>Aag	p.E750K	NELL2_ENST00000437801.2_Missense_Mutation_p.E800K|NELL2_ENST00000333837.4_Missense_Mutation_p.E773K|NELL2_ENST00000452445.2_Missense_Mutation_p.E750K|NELL2_ENST00000549027.1_Missense_Mutation_p.E749K|NELL2_ENST00000395487.2_Missense_Mutation_p.E749K|NELL2_ENST00000551601.1_Missense_Mutation_p.E702K	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	750	VWFC 3. {ECO:0000255|PROSITE- ProRule:PRU00220}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GGGCAGCACTCATTCTCTGGG	0.537																																																0			12						C	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	89.0	74.0	79.0		2398,2248,2245,2317,2248	5.1	1.0	12		79	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense	NELL2	NM_001145107.1,NM_001145108.1,NM_001145109.1,NM_001145110.1,NM_006159.2	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	800/867,750/817,749/816,773/840,750/817	44913940	1,13005	2203	4300	6503	43200207	SO:0001583	missense	4753			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.2248G>A	12.37:g.44913940C>T	ENSP00000390680:p.Glu750Lys		43200207	B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	HMMSmart_TSPN,superfamily_ConA_like_lec_gl,HMMSmart_LamG,HMMPfam_Laminin_G_2,HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,superfamily_SSF57196,HMMSmart_EGF,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2,HMMPfam_EGF_2,PatternScan_EGF_1	p.E750K	ENST00000429094.2	37	c.2248	CCDS8746.1	12	.	.	.	.	.	.	.	.	.	.	C	27.5	4.840700	0.91197	0.0	1.16E-4	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801	T;T;T;T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87;-0.87;-0.87;-0.87	5.07	5.07	0.68467	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	D	0.85673	0.5751	M	0.80616	2.505	0.80722	D	1	D;D;P;P;D	0.65815	0.995;0.99;0.944;0.955;0.971	D;P;P;P;P	0.67103	0.949;0.902;0.572;0.698;0.902	D	0.83691	0.0177	10	0.23302	T	0.38	-17.4466	18.4463	0.90685	0.0:1.0:0.0:0.0	.	773;800;702;750;749	B7Z2U7;B7Z9U3;F8VVB6;Q99435;Q96JS2	.;.;.;NELL2_HUMAN;.	K	749;750;702;750;749;773;800	ENSP00000378866:E749K;ENSP00000390680:E750K;ENSP00000449332:E702K;ENSP00000394612:E750K;ENSP00000447927:E749K;ENSP00000327988:E773K;ENSP00000416341:E800K	ENSP00000327988:E773K	E	-	1	0	NELL2	43200207	1.000000	0.71417	0.989000	0.46669	0.930000	0.56654	6.086000	0.71352	2.325000	0.78763	0.650000	0.86243	GAG	-	HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1		0.537	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NELL2	protein_coding	OTTHUMT00000404180.1	C	NM_006159		43200207	-1	no_errors	NM_006159	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
SZT2	23334	genome.wustl.edu	37	1	43896283	43896283	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr1:43896283G>T	ENST00000562955.1	+	31	4426	c.4426G>T	c.(4426-4428)Gac>Tac	p.D1476Y	SZT2_ENST00000372442.1_Missense_Mutation_p.D634Y	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1533					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTCGCTGTCAGACGTAGACAC	0.572																																																0			1											100.0	102.0	101.0					1																	43896283		2203	4300	6503	43668870	SO:0001583	missense	23334			AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4426G>T	1.37:g.43896283G>T	ENSP00000457168:p.Asp1476Tyr		43668870	A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	NULL	p.D634Y	ENST00000562955.1	37	c.1900	CCDS30694.2	1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771226	0.49680	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.75369	0.3840	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.75875	-0.3163	9	0.87932	D	0	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1476	Q5T011-5	.	Y	634	.	ENSP00000361519:D634Y	D	+	1	0	SZT2	43668870	1.000000	0.71417	1.000000	0.80357	0.276000	0.26787	9.295000	0.96095	2.793000	0.96121	0.655000	0.94253	GAC	-	NULL		0.572	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0467	protein_coding	OTTHUMT00000019517.3	G	NM_015284		43668870	+1	no_errors	NM_015284	genbank	human	predicted	54_36p	missense	SNP	0.998	T
POLD2	5425	genome.wustl.edu	37	7	44157330	44157330	+	Silent	SNP	G	G	T	rs149868867		TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr7:44157330G>T	ENST00000406581.2	-	5	1003	c.354C>A	c.(352-354)ctC>ctA	p.L118L	POLD2_ENST00000452185.1_Silent_p.L118L|POLD2_ENST00000223361.3_Silent_p.L118L	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	118					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						GAGGCTGGGGGAGCAGGTTGT	0.542																																																0			7											65.0	57.0	59.0					7																	44157330		2202	4300	6502	44123855	SO:0001819	synonymous_variant	5425				CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"""DNA polymerases"""	9176	protein-coding gene	gene with protein product	"""Pol delta B subunit (p50)"", ""DNA polymerase delta subunit p50"""	600815	"""polymerase (DNA directed), delta 2, regulatory subunit (50kD)"", ""polymerase (DNA directed), delta 2, regulatory subunit 50kDa"""			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.354C>A	7.37:g.44157330G>T			44123855	A4D2J4|B2R5S4	Silent	SNP	HMMPfam_DNA_pol_E_B	p.L118	ENST00000406581.2	37	c.354	CCDS5477.1	7																																																																																			-	NULL		0.542	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLD2	protein_coding	OTTHUMT00000250994.2	G	NM_001127218		44123855	-1	no_errors	NM_006230	genbank	human	validated	54_36p	silent	SNP	0.994	T
SMC1B	27127	genome.wustl.edu	37	22	45804642	45804642	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr22:45804642T>A	ENST00000357450.4	-	2	246	c.247A>T	c.(247-249)Ata>Tta	p.I83L	SMC1B_ENST00000404354.3_Missense_Mutation_p.I83L	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	83					meiotic nuclear division (GO:0007126)|sister chromatid cohesion (GO:0007062)	chromosome, centromeric region (GO:0000775)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCCACATATATAATTTTTACA	0.299																																																0			22											89.0	85.0	86.0					22																	45804642		1803	4069	5872	44183306	SO:0001583	missense	27127			AJ504806	CCDS43027.1, CCDS74876.1	22q13	2006-07-06	2006-07-06	2006-07-06	ENSG00000077935	ENSG00000077935		"""Structural maintenance of chromosomes proteins"""	11112	protein-coding gene	gene with protein product		608685	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 2 (yeast)"""	SMC1L2		10591208, 11564881	Standard	XM_005261566		Approved	bK268H5	uc003bgc.3	Q8NDV3	OTTHUMG00000151334	ENST00000357450.4:c.247A>T	22.37:g.45804642T>A	ENSP00000350036:p.Ile83Leu		44183306	A0AV46|B0QY23|B0QY24|Q5TIC3|Q6ZUF9|Q9Y3G5	Missense_Mutation	SNP	superfamily_SSF52540,HMMPfam_SMC_N,superfamily_SMC_hinge,HMMPfam_SMC_hinge	p.I83L	ENST00000357450.4	37	c.247	CCDS43027.1	22	.	.	.	.	.	.	.	.	.	.	T	10.63	1.403210	0.25291	.	.	ENSG00000077935	ENST00000357450;ENST00000404354	T;T	0.66460	-0.21;-0.21	5.55	1.12	0.20585	.	0.486738	0.18700	N	0.133618	T	0.50650	0.1628	L	0.39245	1.2	0.21290	N	0.999739	B;B	0.13594	0.008;0.001	B;B	0.16289	0.015;0.009	T	0.31110	-0.9955	10	0.11485	T	0.65	.	9.6048	0.39626	0.0:0.6508:0.0:0.3492	.	83;83	Q8NDV3-2;Q8NDV3-3	.;.	L	83	ENSP00000350036:I83L;ENSP00000385902:I83L	ENSP00000350036:I83L	I	-	1	0	SMC1B	44183306	0.946000	0.32159	0.458000	0.27068	0.321000	0.28281	1.365000	0.34182	0.103000	0.17682	-0.801000	0.03215	ATA	-	superfamily_SSF52540,HMMPfam_SMC_N		0.299	SMC1B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC1B	protein_coding	OTTHUMT00000322256.2	T	NM_148674		44183306	-1	no_errors	NM_148674	genbank	human	validated	54_36p	missense	SNP	0.891	A
ZMYND8	23613	genome.wustl.edu	37	20	45891143	45891143	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr20:45891143C>T	ENST00000311275.7	-	12	1703	c.1450G>A	c.(1450-1452)Gca>Aca	p.A484T	ZMYND8_ENST00000352431.2_Missense_Mutation_p.A504T|ZMYND8_ENST00000540497.1_Intron|ZMYND8_ENST00000372023.3_Missense_Mutation_p.A479T|ZMYND8_ENST00000536340.1_Missense_Mutation_p.A511T|ZMYND8_ENST00000458360.2_Missense_Mutation_p.A479T|ZMYND8_ENST00000396281.4_Missense_Mutation_p.A484T|ZMYND8_ENST00000360911.3_Missense_Mutation_p.A479T|ZMYND8_ENST00000262975.4_Missense_Mutation_p.A484T|ZMYND8_ENST00000461685.1_Missense_Mutation_p.A504T|ZMYND8_ENST00000446994.2_Missense_Mutation_p.A421T|ZMYND8_ENST00000471951.2_Missense_Mutation_p.A504T|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000355972.4_Missense_Mutation_p.A484T	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	484					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AAACTCCCTGCTTGTCCCGTC	0.493																																																0			20											134.0	123.0	127.0					20																	45891143		2203	4300	6503	45324550	SO:0001583	missense	23613			U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.1450G>A	20.37:g.45891143C>T	ENSP00000312237:p.Ala484Thr		45324550	B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,superfamily_SSF63748,HMMPfam_PWWP,HMMPfam_zf-MYND,PatternScan_ZF_MYND_1	p.A504T	ENST00000311275.7	37	c.1510		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.3|26.3	4.724177|4.724177	0.89298|0.89298	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023|ENST00000467200	D;D;D;D;D;D;D;D;D;D;D;D|.	0.93307|.	-2.35;-2.24;-2.33;-2.21;-2.25;-2.26;-2.36;-2.25;-2.24;-3.2;-2.23;-2.36|.	5.34|5.34	5.34|5.34	0.76211|0.76211	.|.	0.107024|.	0.64402|.	D|.	0.000005|.	T|T	0.69260|0.69260	0.3091|0.3091	L|L	0.48642|0.48642	1.525|1.525	0.44477|0.44477	D|D	0.99741|0.99741	D;D;P;D;D;D;D;D;D;D;D;D;D;D;P;D|.	0.71674|.	0.998;0.987;0.937;0.998;0.989;0.989;0.987;0.995;0.986;0.975;0.995;0.964;0.998;0.998;0.844;0.964|.	D;P;P;D;D;D;P;D;P;P;D;D;D;D;P;D|.	0.70227|.	0.953;0.898;0.86;0.968;0.92;0.938;0.898;0.959;0.87;0.87;0.959;0.92;0.968;0.968;0.501;0.938|.	T|T	0.65594|0.65594	-0.6130|-0.6130	10|5	0.37606|.	T|.	0.19|.	-16.9951|-16.9951	19.0521|19.0521	0.93050|0.93050	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	479;511;479;479;459;478;504;484;479;504;504;484;421;479;504;484|.	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q5TH11;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q9ULU4-8;B7Z2A8|.	.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.|.	T|N	479;484;479;484;504;504;484;511;484;421;504;479|410	ENSP00000354166:A479T;ENSP00000312237:A484T;ENSP00000392964:A479T;ENSP00000262975:A484T;ENSP00000420095:A504T;ENSP00000335537:A504T;ENSP00000379577:A484T;ENSP00000439800:A511T;ENSP00000348246:A484T;ENSP00000396725:A421T;ENSP00000418210:A504T;ENSP00000361093:A479T|.	ENSP00000262975:A484T|.	A|S	-|-	1|2	0|0	ZMYND8|ZMYND8	45324550|45324550	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.867000|0.867000	0.49689|0.49689	2.386000|2.386000	0.44380|0.44380	2.508000|2.508000	0.84585|0.84585	0.585000|0.585000	0.79938|0.79938	GCA|AGC	-	NULL		0.493	ZMYND8-007	KNOWN	basic	protein_coding	ZMYND8	protein_coding	OTTHUMT00000079596.2	C	NM_183047		45324550	-1	no_errors	NM_183047	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
MDGA2	161357	genome.wustl.edu	37	14	47389240	47389240	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr14:47389240A>C	ENST00000399232.2	-	10	2370	c.2006T>G	c.(2005-2007)gTt>gGt	p.V669G	MDGA2_ENST00000426342.1_Missense_Mutation_p.V440G|MDGA2_ENST00000439988.3_Missense_Mutation_p.V738G|MDGA2_ENST00000357362.3_Missense_Mutation_p.V440G	NM_001113498.2	NP_001106970.3	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	669	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				pattern specification process (GO:0007389)|spinal cord motor neuron differentiation (GO:0021522)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCGGTATGCAACAATCCGATC	0.418																																																0			14											125.0	116.0	119.0					14																	47389240		1905	4123	6028	46458990	SO:0001583	missense	161357			AI859192	CCDS41948.1, CCDS45098.1, CCDS45098.2, CCDS45098.3	14q21.2	2013-01-29	2007-04-03	2007-04-03	ENSG00000139915	ENSG00000139915		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19835	protein-coding gene	gene with protein product		611128	"""MAM domain containing 1"""	MAMDC1		15019943	Standard	NM_001113498		Approved		uc001wwj.4	Q7Z553	OTTHUMG00000029429	ENST00000399232.2:c.2006T>G	14.37:g.47389240A>C	ENSP00000382178:p.Val669Gly		46458990	F6W3S7|J3KPX6	Missense_Mutation	SNP	superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,HMMPfam_I-set,superfamily_FN_III-like,HMMSmart_MAM,HMMPfam_MAM	p.V440G	ENST00000399232.2	37	c.1319		14	.	.	.	.	.	.	.	.	.	.	A	13.77	2.337616	0.41398	.	.	ENSG00000139915	ENST00000439988;ENST00000426342;ENST00000399232;ENST00000357362	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	5.17	5.17	0.71159	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.197582	0.24542	U	0.037629	T	0.42675	0.1213	L	0.36672	1.1	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.003;0.003	T	0.25813	-1.0121	10	0.28530	T	0.3	.	13.2611	0.60106	1.0:0.0:0.0:0.0	.	440;669	F6W3S7;Q7Z553	.;MDGA2_HUMAN	G	669;440;738;440	ENSP00000400011:V669G;ENSP00000405456:V440G;ENSP00000382178:V738G;ENSP00000349925:V440G	ENSP00000349925:V440G	V	-	2	0	MDGA2	46458990	1.000000	0.71417	0.996000	0.52242	0.469000	0.32828	6.945000	0.75947	2.087000	0.62958	0.482000	0.46254	GTT	-	superfamily_FN_III-like		0.418	MDGA2-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	MDGA2	protein_coding	OTTHUMT00000073352.5	A	NM_182830		46458990	-1	no_errors	NM_182830	genbank	human	validated	54_36p	missense	SNP	1.000	C
MCM3AP	8888	genome.wustl.edu	37	21	47666693	47666693	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr21:47666693A>C	ENST00000397708.1	-	22	4652	c.4398T>G	c.(4396-4398)agT>agG	p.S1466R	MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000455567.1_RNA|AP001469.7_ENST00000444966.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.S1466R|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000414659.1_RNA			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	1466					DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CCATGTCCTCACTCTTCATTT	0.602																																																0			21											166.0	160.0	162.0					21																	47666693		2203	4300	6503	46491121	SO:0001583	missense	8888			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.4398T>G	21.37:g.47666693A>C	ENSP00000380820:p.Ser1466Arg		46491121	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Missense_Mutation	SNP	superfamily_SSF54928,HMMPfam_SAC3_GANP	p.S1466R	ENST00000397708.1	37	c.4398	CCDS13734.1	21	.	.	.	.	.	.	.	.	.	.	A	8.939	0.965458	0.18583	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	T;T	0.03663	3.85;3.85	5.68	-5.82	0.02333	.	0.445267	0.29009	N	0.013440	T	0.04724	0.0128	M	0.63428	1.95	0.21064	N	0.999795	P	0.46706	0.883	B	0.42555	0.391	T	0.10200	-1.0640	10	0.22109	T	0.4	-4.3294	15.5042	0.75725	0.7536:0.0:0.2464:0.0	.	1466	O60318	MCM3A_HUMAN	R	1466	ENSP00000380820:S1466R;ENSP00000291688:S1466R	ENSP00000291688:S1466R	S	-	3	2	MCM3AP	46491121	0.000000	0.05858	0.140000	0.22221	0.089000	0.18198	-0.499000	0.06413	-0.938000	0.03714	-0.924000	0.02725	AGT	-	NULL		0.602	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	protein_coding	OTTHUMT00000207254.1	A	NM_003906		46491121	-1	no_errors	NM_003906	genbank	human	reviewed	54_36p	missense	SNP	0.056	C
TTC7A	57217	genome.wustl.edu	37	2	47278961	47278961	+	Silent	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:47278961C>A	ENST00000319190.5	+	18	2462	c.2094C>A	c.(2092-2094)gtC>gtA	p.V698V	TTC7A_ENST00000409245.1_Silent_p.V664V|TTC7A_ENST00000394850.2_Silent_p.V722V|TTC7A_ENST00000263737.6_Silent_p.V344V	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	698					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCTCTTCGGTCCTGAAGCAGG	0.657																																																0			2											38.0	37.0	38.0					2																	47278961		2203	4300	6503	47132465	SO:0001819	synonymous_variant	57217			AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.2094C>A	2.37:g.47278961C>A			47132465	Q6PIX4|Q8ND67|Q9BUS3	Silent	SNP	superfamily_TPR-like,HMMSmart_SM00028,HMMPfam_TPR_1,HMMPfam_TPR_2	p.V698	ENST00000319190.5	37	c.2094	CCDS33193.1	2																																																																																			-	superfamily_TPR-like		0.657	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC7A	protein_coding	OTTHUMT00000329667.2	C	XM_372927		47132465	+1	no_errors	NM_020458	genbank	human	validated	54_36p	silent	SNP	0.995	A
AQP6	363	genome.wustl.edu	37	12	50367203	50367203	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr12:50367203C>A	ENST00000315520.5	+	1	584	c.247C>A	c.(247-249)Ccc>Acc	p.P83T	AQP6_ENST00000551733.1_Intron	NM_001652.3	NP_001643.2	Q13520	AQP6_HUMAN	aquaporin 6, kidney specific	83					anion transport (GO:0006820)|excretion (GO:0007588)|odontogenesis (GO:0042476)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	integral component of plasma membrane (GO:0005887)|transport vesicle membrane (GO:0030658)	anion channel activity (GO:0005253)|water channel activity (GO:0015250)			endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(2)	13						CCACGCCAACCCCGCCGTGAC	0.672																																																0			12											54.0	55.0	55.0					12																	50367203		2203	4300	6503	48653470	SO:0001583	missense	363			AL137716	CCDS31798.1	12q13	2005-09-20			ENSG00000086159	ENSG00000086159		"""Ion channels / Aquaporins"""	639	protein-coding gene	gene with protein product		601383		AQP2L		8812490	Standard	XM_006719375		Approved		uc001rvr.1	Q13520	OTTHUMG00000133548	ENST00000315520.5:c.247C>A	12.37:g.50367203C>A	ENSP00000320247:p.Pro83Thr		48653470		Missense_Mutation	SNP	superfamily_MIP,HMMPfam_MIP,PatternScan_MIP	p.P83T	ENST00000315520.5	37	c.247	CCDS31798.1	12	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102960	0.76983	.	.	ENSG00000086159	ENST00000315520	D	0.99311	-5.73	4.93	4.93	0.64822	Major intrinsic protein, conserved site (1);Aquaporin-like (2);	0.000000	0.53938	D	0.000058	D	0.99782	0.9909	H	0.99890	4.9	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96473	0.9350	10	0.87932	D	0	-13.8653	17.287	0.87145	0.0:1.0:0.0:0.0	.	83	Q13520	AQP6_HUMAN	T	83	ENSP00000320247:P83T	ENSP00000320247:P83T	P	+	1	0	AQP6	48653470	1.000000	0.71417	0.998000	0.56505	0.612000	0.37316	5.783000	0.68982	2.459000	0.83118	0.561000	0.74099	CCC	-	superfamily_MIP,HMMPfam_MIP,PatternScan_MIP		0.672	AQP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQP6	protein_coding	OTTHUMT00000257528.2	C	NM_001652, NM_053286		48653470	+1	no_errors	NM_001652	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ZNF226	7769	genome.wustl.edu	37	19	44680005	44680005	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr19:44680005G>T	ENST00000590089.1	+	7	957	c.590G>T	c.(589-591)tGt>tTt	p.C197F	ZNF226_ENST00000454662.2_Missense_Mutation_p.C197F|ZNF226_ENST00000337433.5_Missense_Mutation_p.C197F|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	197					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)						Prostate(69;0.0352)|all_neural(266;0.202)				AATAAATTATGTCAATGTAAG	0.358																																					Pancreas(115;581 1665 13228 19278 50070)											0			19											46.0	46.0	46.0					19																	44680005		1822	4084	5906	49371845	SO:0001583	missense	7769			AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.590G>T	19.37:g.44680005G>T	ENSP00000465121:p.Cys197Phe		49371845	Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMSmart_ZnF_C2H2,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.C197F	ENST00000590089.1	37	c.590	CCDS46102.1	19	.	.	.	.	.	.	.	.	.	.	G	3.837	-0.034539	0.07543	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.07114	3.22;3.22	3.72	-0.841	0.10752	.	.	.	.	.	T	0.03263	0.0095	N	0.11023	0.085	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.44997	-0.9291	9	0.26408	T	0.33	.	0.3029	0.00275	0.2913:0.143:0.3051:0.2606	.	197	Q9NYT6	ZN226_HUMAN	F	197	ENSP00000336719:C197F;ENSP00000393265:C197F	ENSP00000336719:C197F	C	+	2	0	ZNF226	49371845	0.004000	0.15560	0.001000	0.08648	0.027000	0.11550	0.291000	0.18994	-0.037000	0.13646	-0.140000	0.14226	TGT	-	NULL		0.358	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF226	protein_coding	OTTHUMT00000460712.1	G			49371845	+1	no_errors	NM_001032372	genbank	human	validated	54_36p	missense	SNP	0.000	T
C10orf71	118461	genome.wustl.edu	37	10	50530672	50530672	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr10:50530672G>A	ENST00000374144.3	+	3	370	c.82G>A	c.(82-84)Gag>Aag	p.E28K	C10orf71_ENST00000323868.4_Missense_Mutation_p.E28K			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	28										endometrium(1)	1						TGCAGACAGGGAGGTGAGCAG	0.552																																																0			10											41.0	45.0	43.0					10																	50530672		2163	4255	6418	50200678	SO:0001583	missense	118461			AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.82G>A	10.37:g.50530672G>A	ENSP00000363259:p.Glu28Lys		50200678	A0AVL8	Missense_Mutation	SNP	NULL	p.E28K	ENST00000374144.3	37	c.82	CCDS44387.1	10	.	.	.	.	.	.	.	.	.	.	G	34	5.336911	0.95758	.	.	ENSG00000177354	ENST00000323868;ENST00000374144	T;T	0.56444	0.46;1.52	5.13	5.13	0.70059	.	0.000000	0.51477	D	0.000094	T	0.73009	0.3532	M	0.70275	2.135	0.54753	D	0.999987	D	0.89917	1.0	D	0.91635	0.999	T	0.76484	-0.2942	10	0.87932	D	0	.	18.5756	0.91154	0.0:0.0:1.0:0.0	.	28	Q711Q0-3	.	K	28	ENSP00000318713:E28K;ENSP00000363259:E28K	ENSP00000318713:E28K	E	+	1	0	C10orf71	50200678	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	9.273000	0.95719	2.396000	0.81511	0.557000	0.71058	GAG	-	NULL		0.552	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C10orf71	protein_coding	OTTHUMT00000047984.2	G	NM_199459		50200678	+1	no_errors	NM_199459	genbank	human	validated	54_36p	missense	SNP	1.000	A
TRIM9	114088	genome.wustl.edu	37	14	51446013	51446013	+	Intron	SNP	C	C	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr14:51446013C>G	ENST00000298355.3	-	9	3192				TRIM9_ENST00000338969.5_Missense_Mutation_p.S802T	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9						negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of SNARE complex assembly (GO:0035544)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|synaptic vesicle (GO:0008021)	ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					ACGCTGTCAGCTTCCCTCTCT	0.532																																																0			14																																								50515763	SO:0001627	intron_variant	114088			AF220036	CCDS9703.1, CCDS45105.1	14q21.3	2013-02-11	2011-01-25		ENSG00000100505	ENSG00000100505		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16288	protein-coding gene	gene with protein product		606555	"""tripartite motif-containing 9"""			11331580, 11524423	Standard	NM_015163		Approved	SPRING, RNF91	uc001wyx.4	Q9C026	OTTHUMG00000140291	ENST00000298355.3:c.2070+91G>C	14.37:g.51446013C>G			50515763	D3DSB7|D3DSB8|Q92557|Q96D24|Q96NI4|Q9C025|Q9C027	Missense_Mutation	SNP	superfamily_SSF57850,HMMPfam_zf-C3HC4,HMMSmart_RING,PatternScan_ZF_RING_1,HMMSmart_BBOX,HMMPfam_zf-B_box,HMMSmart_BBC,superfamily_FN_III-like,HMMPfam_fn3,HMMSmart_FN3,superfamily_ConA_like_lec_gl,HMMPfam_SPRY	p.S802T	ENST00000298355.3	37	c.2405	CCDS9703.1	14	.	.	.	.	.	.	.	.	.	.	C	11.32	1.604489	0.28623	.	.	ENSG00000100505	ENST00000338969	T	0.69926	-0.44	4.61	2.47	0.30058	.	.	.	.	.	T	0.53190	0.1781	.	.	.	0.09310	N	1	B	0.16166	0.016	B	0.17979	0.02	T	0.50189	-0.8857	8	0.87932	D	0	.	5.419	0.16390	0.0:0.7018:0.0:0.2982	.	802	Q9C026-4	.	T	802	ENSP00000342970:S802T	ENSP00000342970:S802T	S	-	2	0	TRIM9	50515763	0.000000	0.05858	0.022000	0.16811	0.033000	0.12548	0.020000	0.13466	1.042000	0.40150	0.563000	0.77884	AGC	-	NULL		0.532	TRIM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM9	protein_coding	OTTHUMT00000276874.1	C	NM_015163		50515763	-1	no_errors	ENST00000338969	ensembl	human	known	54_36p	missense	SNP	0.001	G
HUWE1	10075	genome.wustl.edu	37	X	53576264	53576264	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chrX:53576264G>T	ENST00000342160.3	-	66	10148	c.9691C>A	c.(9691-9693)Cag>Aag	p.Q3231K	HUWE1_ENST00000474288.1_5'Flank|HUWE1_ENST00000262854.6_Missense_Mutation_p.Q3231K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3231					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGCTGCGCTGCAAGATGGAG	0.522																																																0			X											119.0	105.0	110.0					X																	53576264		2203	4300	6503	53592989	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.9691C>A	X.37:g.53576264G>T	ENSP00000340648:p.Gln3231Lys		53592989	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	HMMPfam_DUF908,superfamily_ARM repeat,HMMPfam_DUF913,superfamily_UBA-like,HMMPfam_UBA,HMMSmart_SM00165,HMMPfam_WWE,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT	p.Q3231K	ENST00000342160.3	37	c.9691	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.15|17.15	3.315346|3.315346	0.60524|0.60524	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000427052;ENST00000426907|ENST00000342160;ENST00000262854	.|T;T	.|0.36340	.|1.26;1.26	5.78|5.78	5.78|5.78	0.91487|0.91487	.|.	.|0.149794	.|0.47455	.|D	.|0.000239	T|T	0.49167|0.49167	0.1541|0.1541	L|L	0.31752|0.31752	0.955|0.955	0.80722|0.80722	D|D	1|1	.|P;P	.|0.43578	.|0.713;0.811	.|P;P	.|0.60789	.|0.761;0.879	T|T	0.48068|0.48068	-0.9067|-0.9067	5|10	.|0.66056	.|D	.|0.02	.|.	17.6701|17.6701	0.88214|0.88214	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|3231;3215	.|Q7Z6Z7;Q7Z6Z7-2	.|HUWE1_HUMAN;.	E|K	2264;68|3231	.|ENSP00000340648:Q3231K;ENSP00000262854:Q3231K	.|ENSP00000262854:Q3231K	A|Q	-|-	2|1	0|0	HUWE1|HUWE1	53592989|53592989	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.717000|8.717000	0.91425|0.91425	2.445000|2.445000	0.82738|0.82738	0.600000|0.600000	0.82982|0.82982	GCA|CAG	-	NULL		0.522	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	protein_coding	OTTHUMT00000056766.1	G	XM_497119		53592989	-1	no_errors	NM_031407	genbank	human	validated	54_36p	missense	SNP	1.000	T
TEX14	56155	genome.wustl.edu	37	17	56642230	56642230	+	Splice_Site	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr17:56642230C>A	ENST00000240361.8	-	29	4287	c.4202G>T	c.(4201-4203)aGa>aTa	p.R1401I	TEX14_ENST00000584699.1_5'Flank|TEX14_ENST00000349033.5_Splice_Site_p.R1355I|TEX14_ENST00000389934.3_Splice_Site_p.R1395I			Q8IWB6	TEX14_HUMAN	testis expressed 14	1401					attachment of spindle microtubules to kinetochore (GO:0008608)|intercellular bridge organization (GO:0043063)|male meiosis (GO:0007140)|mitotic sister chromatid separation (GO:0051306)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of cytokinesis (GO:0032466)|negative regulation of protein binding (GO:0032091)	cell (GO:0005623)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|kinetochore (GO:0000776)|midbody (GO:0030496)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTCCTGTTACCTCTCTGTGTC	0.328																																																0			17											125.0	116.0	119.0					17																	56642230		2202	4298	6500	53997229	SO:0001630	splice_region_variant	56155			AF285601	CCDS32692.1, CCDS32693.1, CCDS56042.1	17q22	2013-09-20	2007-03-13		ENSG00000121101	ENSG00000121101			11737	protein-coding gene	gene with protein product	"""cancer/testis antigen 113"""	605792	"""testis expressed sequence 14"""			11279525, 12711554	Standard	NM_031272		Approved	CT113	uc010dcz.2	Q8IWB6	OTTHUMG00000179245	ENST00000240361.8:c.4202+1G>T	17.37:g.56642230C>A			53997229	A6NH19|Q7RTP3|Q8ND97|Q9BXT9	Missense_Mutation	SNP	superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr	p.R1395I	ENST00000240361.8	37	c.4184	CCDS56042.1	17	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110719	0.77210	.	.	ENSG00000121101	ENST00000240361;ENST00000389934;ENST00000349033	T;T;T	0.24538	1.85;1.85;1.85	5.18	5.18	0.71444	.	0.000000	0.64402	D	0.000004	T	0.47266	0.1436	M	0.63843	1.955	0.49051	D	0.999741	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.999	T	0.28106	-1.0054	9	.	.	.	-6.3609	14.063	0.64810	0.0:1.0:0.0:0.0	.	1401;1355;1395	Q8IWB6;Q8IWB6-3;Q8IWB6-2	TEX14_HUMAN;.;.	I	1401;1395;1355	ENSP00000240361:R1401I;ENSP00000374584:R1395I;ENSP00000268910:R1355I	.	R	-	2	0	TEX14	53997229	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	3.539000	0.53604	2.705000	0.92388	0.585000	0.79938	AGA	-	NULL		0.328	TEX14-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TEX14	protein_coding	OTTHUMT00000445446.1	C		Missense_Mutation	53997229	-1	no_errors	NM_198393	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
TBC1D3P1-DHX40P1	653645	genome.wustl.edu	37	17	58094579	58094579	+	lincRNA	SNP	C	C	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr17:58094579C>T	ENST00000407042.3	-	0	230									TBC1D3P1-DHX40P1 readthrough transcribed pseudogene																		GTTGTAGCTTCCAAAAGACTT	0.572																																																0			17																																								55449361			0					17q23.1	2014-09-10	2012-12-07		ENSG00000267104	ENSG00000267104			42362	other	readthrough			"""TBC1D3P1-DHX40P1 readthrough (non-protein coding)"""				Standard	NR_002924		Approved		uc002iyf.2		OTTHUMG00000179977		17.37:g.58094579C>T			55449361		Missense_Mutation	SNP	superfamily_RabGAP_TBC,HMMPfam_TBC	p.G40E	ENST00000407042.3	37	c.119		17	.	.	.	.	.	.	.	.	.	.	C	0.600	-0.829316	0.02734	.	.	ENSG00000238283	ENST00000407042	.	.	.	0.0465	0.0465	0.14256	.	4.456960	0.01854	U	0.036140	T	0.26048	0.0635	.	.	.	.	.	.	.	.	.	.	.	.	T	0.15607	-1.0431	4	0.31617	T	0.26	.	.	.	.	.	.	.	.	E	40	.	ENSP00000383952:G40E	G	-	2	0	AC005702.1	55449361	0.001000	0.12720	0.002000	0.10522	0.002000	0.02628	-0.596000	0.05720	0.132000	0.18615	0.134000	0.15878	GGA	-	NULL		0.572	TBC1D3P1-DHX40P1-201	KNOWN	basic	lincRNA	ENSG00000204471	lincRNA		C	NR_002924		55449361	-1	no_errors	ENST00000338790	ensembl	human	known	54_36p	missense	SNP	0.000	T
DST	667	genome.wustl.edu	37	6	56507577	56507577	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr6:56507577T>C	ENST00000244364.6	-	1	217	c.10A>G	c.(10-12)Agt>Ggt	p.S4G	DST_ENST00000370754.5_Intron|DST_ENST00000446842.2_Missense_Mutation_p.S4G|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000518935.1_Missense_Mutation_p.S4G|DST_ENST00000361203.3_Intron|DST_ENST00000370765.6_Missense_Mutation_p.S4G	NM_001144769.2|NM_001144770.1|NM_015548.4|NM_183380.3	NP_001138241.1|NP_001138242.1|NP_056363.2|NP_899236.1	Q03001	DYST_HUMAN	dystonin	0					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTATAACTACTACTGTGCATT	0.378																																																0			6											96.0	94.0	95.0					6																	56507577		2203	4300	6503	56615536	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000244364.6:c.10A>G	6.37:g.56507577T>C	ENSP00000244364:p.Ser4Gly		56615536	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	HMMSmart_SM00150,superfamily_Spectrin repeat,HMMPfam_Spectrin,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,HMMPfam_GAS2,HMMSmart_SM00243	p.S4G	ENST00000244364.6	37	c.10	CCDS47443.1	6	.	.	.	.	.	.	.	.	.	.	T	18.05	3.536388	0.65085	.	.	ENSG00000151914	ENST00000244364;ENST00000446842;ENST00000439203;ENST00000370765;ENST00000518935	T;T;T;T;T	0.73789	1.14;0.96;-0.28;-0.78;-0.24	5.86	5.86	0.93980	.	.	.	.	.	T	0.65238	0.2672	N	0.08118	0	0.19300	N	0.999971	B;P;D;B	0.65815	0.243;0.952;0.995;0.356	B;B;P;B	0.61800	0.055;0.389;0.894;0.164	T	0.76005	-0.3117	8	0.62326	D	0.03	.	16.5602	0.84551	0.0:0.0:0.0:1.0	.	4;4;4;4	Q6P0N6;Q03001-3;Q03001-9;Q03001-8	.;.;.;.	G	4	ENSP00000244364:S4G;ENSP00000393645:S4G;ENSP00000404924:S4G;ENSP00000359801:S4G;ENSP00000431003:S4G	ENSP00000244364:S4G	S	-	1	0	DST	56615536	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.880000	0.69698	2.367000	0.80283	0.528000	0.53228	AGT	-	NULL		0.378	DST-005	KNOWN	basic|CCDS	protein_coding	DST	protein_coding	OTTHUMT00000041022.4	T	NM_001723		56615536	-1	no_errors	NM_015548	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
MYO1E	4643	genome.wustl.edu	37	15	59470658	59470658	+	Silent	SNP	C	C	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr15:59470658C>G	ENST00000288235.4	-	19	2382	c.1983G>C	c.(1981-1983)tcG>tcC	p.S661S		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	661	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CCATGTTGACCGACTGCAGCA	0.577																																																0			15											109.0	87.0	95.0					15																	59470658		2191	4291	6482	57257950	SO:0001819	synonymous_variant	4643			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.1983G>C	15.37:g.59470658C>G			57257950	Q14778	Silent	SNP	HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head,HMMPfam_Myosin_TH1,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326	p.S661	ENST00000288235.4	37	c.1983	CCDS32254.1	15																																																																																			-	HMMSmart_SM00242,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Myosin_head		0.577	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1E	protein_coding	OTTHUMT00000416024.1	C	NM_004998		57257950	-1	no_errors	NM_004998	genbank	human	validated	54_36p	silent	SNP	0.226	G
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	G	G	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chrUnknown:0G>A								None (None upstream) : None (None downstream)																								0.0																																																0			17																																								59802052	SO:0001628	intergenic_variant	5175																															Unknown.37:g.0G>A			59802052		Silent	SNP	HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409	p.V175		37	c.525		17																																																																																			-	superfamily_Immunoglobulin	0	0					PECAM1			G			59802052	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	NM_000442	genbank	human	provisional	54_36p	silent	SNP	0.018	A
NLRP13	126204	genome.wustl.edu	37	19	56423809	56423809	+	Silent	SNP	A	A	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr19:56423809A>G	ENST00000342929.3	-	5	1373	c.1374T>C	c.(1372-1374)taT>taC	p.Y458Y	NLRP13_ENST00000588751.1_Silent_p.Y458Y	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	458	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGGAGAAAAAATAGGCATACA	0.512																																																0			19											84.0	85.0	85.0					19																	56423809		2203	4300	6503	61115621	SO:0001819	synonymous_variant	126204			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1374T>C	19.37:g.56423809A>G			61115621	Q7RTR5	Silent	SNP	superfamily_DEATH_like,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_SSF52047,HMMPfam_LRR_1	p.Y458	ENST00000342929.3	37	c.1374	CCDS33119.1	19																																																																																			-	NULL		0.512	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	protein_coding	OTTHUMT00000396560.1	A	NM_176810		61115621	-1	no_errors	NM_176810	genbank	human	validated	54_36p	silent	SNP	0.001	G
NLRP13	126204	genome.wustl.edu	37	19	56423971	56423971	+	Missense_Mutation	SNP	T	T	A	rs149489544		TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr19:56423971T>A	ENST00000342929.3	-	5	1211	c.1212A>T	c.(1210-1212)gaA>gaT	p.E404D	NLRP13_ENST00000588751.1_Missense_Mutation_p.E404D	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	404	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)	p.E404D(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTTTCTCAACTTCACTTGAGT	0.448																																																1	Substitution - Missense(1)	ovary(1)	19											86.0	90.0	89.0					19																	56423971		2203	4300	6503	61115783	SO:0001583	missense	126204			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.1212A>T	19.37:g.56423971T>A	ENSP00000343891:p.Glu404Asp		61115783	Q7RTR5	Missense_Mutation	SNP	HMMPfam_LRR_1,HMMPfam_PAAD_DAPIN,HMMPfam_NACHT,superfamily_DEATH_like,superfamily_SSF52047	p.E404D	ENST00000342929.3	37	c.1212	CCDS33119.1	19	.	.	.	.	.	.	.	.	.	.	T	7.970	0.748967	0.15710	.	.	ENSG00000173572	ENST00000342929	T	0.73047	-0.71	2.7	-3.58	0.04597	.	.	.	.	.	T	0.42653	0.1212	N	0.14661	0.345	0.09310	N	1	B	0.28512	0.214	B	0.21917	0.037	T	0.17745	-1.0359	9	0.40728	T	0.16	.	0.8016	0.01076	0.1622:0.2545:0.1636:0.4197	.	404	Q86W25	NAL13_HUMAN	D	404	ENSP00000343891:E404D	ENSP00000343891:E404D	E	-	3	2	NLRP13	61115783	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.703000	0.05063	-1.109000	0.02996	-1.431000	0.01090	GAA	-	NULL		0.448	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	protein_coding	OTTHUMT00000396560.1	T	NM_176810		61115783	-1	no_errors	NM_176810	genbank	human	validated	54_36p	missense	SNP	0.000	A
CCT4	10575	genome.wustl.edu	37	2	62096595	62096595	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:62096595T>C	ENST00000394440.3	-	13	1881	c.1585A>G	c.(1585-1587)Att>Gtt	p.I529V	CCT4_ENST00000461540.2_5'UTR|CCT4_ENST00000544079.1_Missense_Mutation_p.I499V|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000538252.1_Missense_Mutation_p.I473V|CCT4_ENST00000544185.1_Missense_Mutation_p.I379V	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	529					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|centrosome (GO:0005813)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			ATTTTCAGAATGCTCCGAACA	0.393																																																0			2											89.0	89.0	89.0					2																	62096595		2203	4300	6503	61950099	SO:0001583	missense	10575				CCDS33206.1, CCDS58711.1	2p15	2011-09-02			ENSG00000115484	ENSG00000115484		"""Heat Shock Proteins / Chaperonins"""	1617	protein-coding gene	gene with protein product		605142				9819444	Standard	NM_001256721		Approved	Cctd	uc002sbo.4	P50991	OTTHUMG00000152166	ENST00000394440.3:c.1585A>G	2.37:g.62096595T>C	ENSP00000377958:p.Ile529Val		61950099	B2R6I3|B7Z8B1|F5H5W3|O14870|Q53QP9|Q96C51	Missense_Mutation	SNP	superfamily_GroEL-ATPase,HMMPfam_Cpn60_TCP1,PatternScan_TCP1_1,PatternScan_TCP1_2,PatternScan_TCP1_3,superfamily_SSF54849,superfamily_SSF52029	p.I529V	ENST00000394440.3	37	c.1585	CCDS33206.1	2	.	.	.	.	.	.	.	.	.	.	T	23.6	4.437509	0.83885	.	.	ENSG00000115484	ENST00000394440;ENST00000544079;ENST00000544185;ENST00000538252	T;T;T;T	0.14144	2.53;2.53;2.53;2.53	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.32436	0.0829	M	0.82716	2.605	0.80722	D	1	P;P	0.52577	0.916;0.954	P;P	0.53360	0.654;0.724	T	0.21415	-1.0246	10	0.59425	D	0.04	-13.9408	14.2397	0.65950	0.0:0.0:0.0:1.0	.	499;529	F5H5W3;P50991	.;TCPD_HUMAN	V	529;499;379;473	ENSP00000377958:I529V;ENSP00000443061:I499V;ENSP00000443451:I379V;ENSP00000442174:I473V	ENSP00000377958:I529V	I	-	1	0	CCT4	61950099	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.720000	0.84759	1.890000	0.54733	0.528000	0.53228	ATT	-	superfamily_GroEL-ATPase,HMMPfam_Cpn60_TCP1		0.393	CCT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT4	protein_coding	OTTHUMT00000325548.2	T			61950099	-1	no_errors	NM_006430	genbank	human	validated	54_36p	missense	SNP	1.000	C
KHDRBS2	202559	genome.wustl.edu	37	6	62611265	62611265	+	Silent	SNP	A	A	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr6:62611265A>G	ENST00000281156.4	-	5	773	c.495T>C	c.(493-495)gaT>gaC	p.D165D		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GACGAATTTCATCATTGTAGT	0.393																																																0			6											90.0	90.0	90.0					6																	62611265		2203	4300	6503	62669224	SO:0001819	synonymous_variant	202559			BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.495T>C	6.37:g.62611265A>G			62669224	A8K7M8|Q8N4I4|Q8TCZ4	Silent	SNP	HMMSmart_KH,superfamily_SSF54791,HMMPfam_KH_1	p.D165	ENST00000281156.4	37	c.495	CCDS4963.1	6																																																																																			-	superfamily_SSF54791		0.393	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS2	protein_coding	OTTHUMT00000041066.2	A	NM_152688		62669224	-1	no_errors	NM_152688	genbank	human	validated	54_36p	silent	SNP	1.000	G
WDPCP	51057	genome.wustl.edu	37	2	63666899	63666899	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:63666899A>G	ENST00000272321.7	-	7	1018	c.491T>C	c.(490-492)aTc>aCc	p.I164T	WDPCP_ENST00000409199.1_Intron|WDPCP_ENST00000409562.3_Missense_Mutation_p.I164T|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000409120.1_5'UTR|WDPCP_ENST00000398544.3_5'Flank	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	164					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						ACCATCACTGATGGTGTCTGA	0.483																																																0			2											129.0	126.0	127.0					2																	63666899		1951	4172	6123	63520403	SO:0001583	missense	51057				CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.491T>C	2.37:g.63666899A>G	ENSP00000272321:p.Ile164Thr		63520403	Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	NULL	p.I164T	ENST00000272321.7	37	c.491	CCDS42688.1	2	.	.	.	.	.	.	.	.	.	.	A	21.6	4.166166	0.78339	.	.	ENSG00000143951	ENST00000272321;ENST00000409562	T;T	0.55588	0.51;0.51	5.68	5.68	0.88126	.	0.121061	0.53938	D	0.000042	T	0.72859	0.3513	M	0.75264	2.295	0.58432	D	0.999998	D;D	0.89917	1.0;0.984	D;P	0.85130	0.997;0.903	T	0.76266	-0.3022	10	0.72032	D	0.01	-8.006	15.9325	0.79675	1.0:0.0:0.0:0.0	.	164;164	O95876-2;O95876	.;FRITZ_HUMAN	T	164	ENSP00000272321:I164T;ENSP00000387222:I164T	ENSP00000272321:I164T	I	-	2	0	WDPCP	63520403	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.106000	0.77039	2.169000	0.68431	0.528000	0.53228	ATC	-	NULL		0.483	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf86	protein_coding	OTTHUMT00000326820.1	A	NM_015910		63520403	-1	no_errors	NM_015910	genbank	human	validated	54_36p	missense	SNP	1.000	G
SLC9A5	6553	genome.wustl.edu	37	16	67293782	67293782	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr16:67293782G>T	ENST00000299798.11	+	12	1840	c.1775G>T	c.(1774-1776)gGc>gTc	p.G592V	CTC-277H1.7_ENST00000573063.1_RNA	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	592					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		GTACGCAGCGGCCGGGATCGT	0.622																																																0			16											47.0	49.0	48.0					16																	67293782		2115	4253	6368	65851283	SO:0001583	missense	6553				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.1775G>T	16.37:g.67293782G>T	ENSP00000299798:p.Gly592Val		65851283	A5PKY7|Q9Y626	Missense_Mutation	SNP	HMMPfam_Na_H_Exchanger	p.G592V	ENST00000299798.11	37	c.1775	CCDS42178.1	16	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493445	0.64186	.	.	ENSG00000135740	ENST00000299798;ENST00000360183	T	0.55052	0.54	5.64	5.64	0.86602	.	0.263399	0.31335	N	0.007836	T	0.56992	0.2023	N	0.14661	0.345	0.80722	D	1	D;P	0.76494	0.999;0.799	D;B	0.73708	0.981;0.212	T	0.54009	-0.8357	10	0.25106	T	0.35	.	19.0544	0.93058	0.0:0.0:1.0:0.0	.	80;592	F8WDV9;Q14940	.;SL9A5_HUMAN	V	592;80	ENSP00000299798:G592V	ENSP00000299798:G592V	G	+	2	0	SLC9A5	65851283	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.460000	0.60108	2.826000	0.97356	0.561000	0.74099	GGC	-	NULL		0.622	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A5	protein_coding	OTTHUMT00000421386.1	G			65851283	+1	no_errors	NM_004594	genbank	human	validated	54_36p	missense	SNP	1.000	T
PTGER4P3	100874378	genome.wustl.edu	37	9	68371723	68371723	+	IGR	SNP	A	A	T	rs75431908		TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr9:68371723A>T								RP11-149F8.5 (31079 upstream) : RP11-764K9.1 (26154 downstream)																							CCCGCCCTTCATGTACATGGC	0.547																																																0			9																																								67861543	SO:0001628	intergenic_variant	728683																															9.37:g.68371723A>T			67861543		Missense_Mutation	SNP	HMMPfam_7tm_1	p.M236K		37	c.707		9																																																																																			-	NULL	0	0.547					LOC728683			A			67861543	-1	no_errors	XM_001128151	genbank	human	model	54_36p	missense	SNP	1.000	T
BAI3	577	genome.wustl.edu	37	6	69666082	69666082	+	Splice_Site	SNP	T	T	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr6:69666082T>A	ENST00000370598.1	+	7	2181		c.e7+2			NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3						G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AATGTACAGGTAGGGCTTGAT	0.498																																																0			6											55.0	49.0	51.0					6																	69666082		2203	4300	6503	69722803	SO:0001630	splice_region_variant	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1360+2T>A	6.37:g.69666082T>A			69722803	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Splice_Site	SNP	-	e5+2	ENST00000370598.1	37	c.1360+2	CCDS4968.1	6	.	.	.	.	.	.	.	.	.	.	T	22.7	4.327450	0.81690	.	.	ENSG00000135298	ENST00000370598	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.975	0.80057	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	BAI3	69722803	1.000000	0.71417	0.987000	0.45799	0.721000	0.41392	7.844000	0.86867	2.181000	0.69327	0.482000	0.46254	.	-	-		0.498	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAI3	protein_coding	OTTHUMT00000041120.1	T		Intron	69722803	+1	no_errors	NM_001704	genbank	human	reviewed	54_36p	splice_site	SNP	0.999	A
UGT2A3	79799	genome.wustl.edu	37	4	69816890	69816890	+	Missense_Mutation	SNP	T	T	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr4:69816890T>A	ENST00000251566.4	-	1	619	c.589A>T	c.(589-591)Aca>Tca	p.T197S	UGT2A3_ENST00000420231.2_5'UTR	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	197					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTTAGTCCTGTCATAGGCACA	0.413																																																0			4											48.0	50.0	49.0					4																	69816890		2203	4298	6501	69851479	SO:0001583	missense	79799				CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.589A>T	4.37:g.69816890T>A	ENSP00000251566:p.Thr197Ser		69851479	Q9H6S4	Missense_Mutation	SNP	PatternScan_HMA_1,superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT,PatternScan_UDPGT	p.T197S	ENST00000251566.4	37	c.589	CCDS3525.1	4	.	.	.	.	.	.	.	.	.	.	T	0.008	-1.921173	0.00498	.	.	ENSG00000135220	ENST00000251566	T	0.57595	0.39	4.74	-9.48	0.00591	.	1.354690	0.05004	N	0.469696	T	0.12860	0.0312	N	0.00670	-1.27	0.09310	N	0.999998	B	0.12013	0.005	B	0.18263	0.021	T	0.04413	-1.0953	10	0.02654	T	1	.	2.3501	0.04281	0.4559:0.1312:0.0892:0.3238	.	197	Q6UWM9	UD2A3_HUMAN	S	197	ENSP00000251566:T197S	ENSP00000251566:T197S	T	-	1	0	UGT2A3	69851479	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-3.635000	0.00408	-4.718000	0.00035	-0.468000	0.05107	ACA	-	superfamily_UDP-Glycosyltransferase/glycogen phosphorylase,HMMPfam_UDPGT		0.413	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2A3	protein_coding	OTTHUMT00000251564.1	T	NM_024743		69851479	-1	no_errors	NM_024743	genbank	human	validated	54_36p	missense	SNP	0.000	A
DNA2	1763	genome.wustl.edu	37	10	70229848	70229848	+	Silent	SNP	C	C	G	rs368283374		TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr10:70229848C>G	ENST00000358410.3	-	2	197	c.147G>C	c.(145-147)gtG>gtC	p.V49V	DNA2_ENST00000399179.2_Silent_p.V49V|DNA2_ENST00000399180.2_Silent_p.V135V	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	49					ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						TGACTGCCAACACCAGGTACC	0.408																																																0			10											97.0	84.0	88.0					10																	70229848		1877	4110	5987	69899854	SO:0001819	synonymous_variant	1763			D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.147G>C	10.37:g.70229848C>G			69899854	Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Silent	SNP	HMMPfam_Dna2,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.V135	ENST00000358410.3	37	c.405		10																																																																																			-	NULL		0.408	DNA2-001	KNOWN	basic|appris_principal	protein_coding	DNA2	protein_coding	OTTHUMT00000048334.2	C			69899854	-1	no_errors	NM_001080449	genbank	human	provisional	54_36p	silent	SNP	0.630	G
SRSF11	9295	genome.wustl.edu	37	1	70715700	70715700	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr1:70715700G>C	ENST00000370950.3	+	11	1170	c.1088G>C	c.(1087-1089)aGa>aCa	p.R363T	SRSF11_ENST00000484162.1_3'UTR|SRSF11_ENST00000370951.1_Missense_Mutation_p.R363T|SRSF11_ENST00000405432.1_Missense_Mutation_p.R363T|SRSF11_ENST00000370949.1_Missense_Mutation_p.R303T			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	363					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(3)|ovary(2)|skin(1)	6						TCTCCTAAAAGAAAATTGTCC	0.368																																																0			1											83.0	89.0	87.0					1																	70715700		2203	4300	6503	70488288	SO:0001583	missense	9295			M74002	CCDS647.1, CCDS53332.1	1p31.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000116754	ENSG00000116754		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10782	protein-coding gene	gene with protein product	"""SR splicing factor 11"""	602010	"""splicing factor, arginine/serine-rich 11"""	SFRS11		1896467, 20516191	Standard	NM_004768		Approved	p54, NET2	uc001des.3	Q05519	OTTHUMG00000009342	ENST00000370950.3:c.1088G>C	1.37:g.70715700G>C	ENSP00000359988:p.Arg363Thr		70488288	Q5T758|Q8IWE6	Missense_Mutation	SNP	superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1	p.R363T	ENST00000370950.3	37	c.1088	CCDS647.1	1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.228582	0.58777	.	.	ENSG00000116754	ENST00000370951;ENST00000370950;ENST00000405432;ENST00000395136;ENST00000370949	T;D;D;D;T	0.96940	2.24;-1.62;-1.62;-4.18;-0.34	5.45	5.45	0.79879	.	0.141665	0.64402	D	0.000014	D	0.95249	0.8459	M	0.72894	2.215	0.80722	D	1	P;P;P;P	0.50819	0.939;0.808;0.808;0.808	P;B;B;B	0.45538	0.484;0.242;0.242;0.242	D	0.94088	0.7350	10	0.33940	T	0.23	.	19.2521	0.93929	0.0:0.0:1.0:0.0	.	303;370;363;363	Q5T757;Q6PJB9;Q8IWE6;Q05519	.;.;.;SRS11_HUMAN	T	363;363;363;370;303	ENSP00000359989:R363T;ENSP00000359988:R363T;ENSP00000384357:R363T;ENSP00000378568:R370T;ENSP00000359987:R303T	ENSP00000359987:R303T	R	+	2	0	SRSF11	70488288	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.441000	0.73439	2.730000	0.93505	0.655000	0.94253	AGA	-	NULL		0.368	SRSF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SFRS11	protein_coding	OTTHUMT00000025889.1	G	NM_004768		70488288	+1	no_errors	NM_004768	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
TBC1D4	9882	genome.wustl.edu	37	13	75884231	75884231	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr13:75884231C>G	ENST00000377636.3	-	14	2786	c.2440G>C	c.(2440-2442)Gag>Cag	p.E814Q	TBC1D4_ENST00000425511.1_Missense_Mutation_p.E31Q|TBC1D4_ENST00000377625.2_Missense_Mutation_p.E751Q|TBC1D4_ENST00000431480.2_Missense_Mutation_p.E806Q	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	814					cellular response to insulin stimulus (GO:0032869)|membrane organization (GO:0061024)|negative regulation of vesicle fusion (GO:0031339)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)	Rab GTPase activator activity (GO:0005097)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		AGCGGTTCCTCCTCCATGGTT	0.493																																																0			13											69.0	63.0	65.0					13																	75884231		1875	4103	5978	74782232	SO:0001583	missense	9882			AB011175	CCDS41901.1, CCDS66563.1, CCDS66564.1	13q22.2	2013-07-09			ENSG00000136111	ENSG00000136111			19165	protein-coding gene	gene with protein product	"""Akt substrate of 160 kDa"""	612465				11829485, 11994271, 15304337	Standard	XM_005266603		Approved	KIAA0603, AS160, DKFZp779C0666	uc001vjl.1	O60343	OTTHUMG00000017088	ENST00000377636.3:c.2440G>C	13.37:g.75884231C>G	ENSP00000366863:p.Glu814Gln		74782232	A7E2X8|B4DU25|B4E235|B6ETN8|B6ETN9|Q5W0B9|Q68D14	Missense_Mutation	SNP	superfamily_PH domain-like,HMMSmart_SM00462,HMMPfam_PID,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164	p.E814Q	ENST00000377636.3	37	c.2440	CCDS41901.1	13	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703500	0.68501	.	.	ENSG00000136111	ENST00000377636;ENST00000431480;ENST00000377625;ENST00000425511;ENST00000413735	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;1.82	5.93	5.93	0.95920	.	0.000000	0.64402	D	0.000001	T	0.47710	0.1460	L	0.50919	1.6	0.40778	D	0.983143	B;B;B;B	0.33448	0.169;0.371;0.203;0.412	B;B;B;B	0.34242	0.086;0.141;0.142;0.178	T	0.36504	-0.9745	10	0.31617	T	0.26	-31.8528	20.3409	0.98764	0.0:1.0:0.0:0.0	.	31;751;806;814	O60343-4;O60343-2;O60343-3;O60343	.;.;.;TBCD4_HUMAN	Q	814;806;751;31;263	ENSP00000366863:E814Q;ENSP00000395986:E806Q;ENSP00000366852:E751Q;ENSP00000390654:E31Q;ENSP00000396932:E263Q	ENSP00000366852:E751Q	E	-	1	0	TBC1D4	74782232	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.558000	0.67319	2.814000	0.96858	0.655000	0.94253	GAG	-	NULL		0.493	TBC1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D4	protein_coding	OTTHUMT00000045283.1	C	NM_014832		74782232	-1	no_errors	NM_014832	genbank	human	validated	54_36p	missense	SNP	1.000	G
CRISPLD1	83690	genome.wustl.edu	37	8	75898261	75898261	+	Silent	SNP	A	A	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr8:75898261A>C	ENST00000262207.4	+	2	507	c.39A>C	c.(37-39)acA>acC	p.T13T	CRISPLD1_ENST00000519798.1_3'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	13					face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			GAGTAACCACAGTGCTGTTCA	0.478																																																0			8											128.0	136.0	133.0					8																	75898261		2203	4300	6503	76060816	SO:0001819	synonymous_variant	83690			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.39A>C	8.37:g.75898261A>C			76060816	B2RA60|B7Z929	Silent	SNP	superfamily_PR-1-like,HMMSmart_SM00198,HMMPfam_SCP,PatternScan_CRISP_2,superfamily_LCCL domain,HMMSmart_SM00603,HMMPfam_LCCL	p.T13	ENST00000262207.4	37	c.39	CCDS6219.1	8																																																																																			-	NULL		0.478	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD1	protein_coding	OTTHUMT00000379117.1	A	NM_031461		76060816	+1	no_errors	NM_031461	genbank	human	validated	54_36p	silent	SNP	0.929	C
VIPAS39	63894	genome.wustl.edu	37	14	77907411	77907411	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr14:77907411C>A	ENST00000553888.1	-	11	1270	c.760G>T	c.(760-762)Gcg>Tcg	p.A254S	VIPAS39_ENST00000343765.2_Missense_Mutation_p.A254S|VIPAS39_ENST00000448935.2_Missense_Mutation_p.A205S|VIPAS39_ENST00000556412.1_Missense_Mutation_p.A280S|VIPAS39_ENST00000327028.4_Missense_Mutation_p.A241S|VIPAS39_ENST00000557658.1_Missense_Mutation_p.A254S	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	254					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											ACACTTACCGCAAGCTCTTCT	0.493																																																0			14											153.0	135.0	141.0					14																	77907411		2203	4300	6503	76977164	SO:0001583	missense	63894			AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.760G>T	14.37:g.77907411C>A	ENSP00000452181:p.Ala254Ser		76977164	B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	HMMPfam_Golgin_A5	p.A254S	ENST00000553888.1	37	c.760	CCDS9862.1	14	.	.	.	.	.	.	.	.	.	.	C	32	5.109226	0.94292	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000448935;ENST00000556412	T;T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79;0.79	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.67581	0.2908	M	0.65498	2.005	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.974	T	0.62770	-0.6784	10	0.32370	T	0.25	-3.8154	18.3615	0.90376	0.0:1.0:0.0:0.0	.	205;254	B4DPI6;Q9H9C1	.;VIPAR_HUMAN	S	254;254;241;254;205;280	ENSP00000339122:A254S;ENSP00000452181:A254S;ENSP00000313098:A241S;ENSP00000452191:A254S;ENSP00000404815:A205S;ENSP00000451857:A280S	ENSP00000313098:A241S	A	-	1	0	VIPAR	76977164	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.121000	0.64691	2.698000	0.92095	0.655000	0.94253	GCG	-	HMMPfam_Golgin_A5		0.493	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf133	protein_coding	OTTHUMT00000414008.1	C	NM_022067		76977164	-1	no_errors	NM_022067	genbank	human	predicted	54_36p	missense	SNP	1.000	A
ROBO1	6091	genome.wustl.edu	37	3	78988017	78988017	+	Missense_Mutation	SNP	A	A	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr3:78988017A>C	ENST00000464233.1	-	4	346	c.233T>G	c.(232-234)aTt>aGt	p.I78S	ROBO1_ENST00000436010.2_Missense_Mutation_p.I39S|ROBO1_ENST00000495273.1_Missense_Mutation_p.I39S|ROBO1_ENST00000467549.1_Missense_Mutation_p.I39S|RN7SL751P_ENST00000473281.2_RNA	NM_002941.3	NP_002932.1	Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	78	Ig-like C2-type 1.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|homophilic cell adhesion (GO:0007156)|mammary duct terminal end bud growth (GO:0060763)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of negative chemotaxis (GO:0050925)|nervous system development (GO:0007399)|positive regulation of axonogenesis (GO:0050772)|Roundabout signaling pathway (GO:0035385)	axolemma (GO:0030673)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)|LRR domain binding (GO:0030275)			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TTTTGAGACAATCAGGTCTGA	0.473																																																0			3											107.0	100.0	102.0					3																	78988017		1864	4103	5967	79070707	SO:0001583	missense	6091			AF040990	CCDS46872.1, CCDS46872.2, CCDS54610.1, CCDS54611.1	3p12.3	2013-02-11	2001-11-28		ENSG00000169855	ENSG00000169855		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10249	protein-coding gene	gene with protein product		602430	"""roundabout (axon guidance receptor, Drosophila) homolog 1"""			9458045, 9608531	Standard	NM_002941		Approved	DUTT1, FLJ21882, SAX3	uc003dqe.2	Q9Y6N7	OTTHUMG00000158843	ENST00000464233.1:c.233T>G	3.37:g.78988017A>C	ENSP00000420321:p.Ile78Ser		79070707	B2RXI1|D3DU36|E9PD49|Q1RMC7|Q7Z300|Q9BUS7	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3	p.I78S	ENST00000464233.1	37	c.233	CCDS54611.1	3	.	.	.	.	.	.	.	.	.	.	A	26.2	4.715668	0.89112	.	.	ENSG00000169855	ENST00000436010;ENST00000398412;ENST00000464233;ENST00000495273;ENST00000467549;ENST00000398414	T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17	5.69	5.69	0.88448	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	N	0.04880	-0.145	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.995	T	0.64554	-0.6380	9	.	.	.	.	15.944	0.79779	1.0:0.0:0.0:0.0	.	78;39;39;39	Q9Y6N7;B2RXI1;E9PD49;Q9Y6N7-4	ROBO1_HUMAN;.;.;.	S	39;39;78;39;39;78	ENSP00000406043:I39S;ENSP00000420321:I78S;ENSP00000420637:I39S;ENSP00000417992:I39S	.	I	-	2	0	ROBO1	79070707	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	9.307000	0.96226	2.170000	0.68504	0.379000	0.24179	ATT	-	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409		0.473	ROBO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO1	protein_coding	OTTHUMT00000352610.1	A	NM_002941		79070707	-1	no_errors	NM_002941	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
PSAT1P3	729779	genome.wustl.edu	37	1	79521438	79521438	+	IGR	SNP	A	A	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr1:79521438A>G								ELTD1 (49035 upstream) : AC093430.1 (79379 downstream)																							CTGTCACCACATAGTCCGCAC	0.463																																																0			1																																								79294026	SO:0001628	intergenic_variant	729779																															1.37:g.79521438A>G			79294026		RNA	SNP	-	NULL		37	NULL		1																																																																																			-	-	0	0.463					LOC729779			A			79294026	-1	pseudogene	XR_016024	genbank	human	model	54_36p	rna	SNP	0.997	G
SLC38A8	146167	genome.wustl.edu	37	16	84075622	84075622	+	Nonsense_Mutation	SNP	C	C	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr16:84075622C>T	ENST00000299709.3	-	1	140	c.141G>A	c.(139-141)tgG>tgA	p.W47*	RNA5SP432_ENST00000362480.1_RNA	NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	47					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGGAGAAGGCCCAGGGGAAGT	0.642																																																0			16											86.0	96.0	92.0					16																	84075622		2200	4300	6500	82633123	SO:0001587	stop_gained	146167				CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.141G>A	16.37:g.84075622C>T	ENSP00000299709:p.Trp47*		82633123		Nonsense_Mutation	SNP	HMMPfam_Aa_trans	p.W47*	ENST00000299709.3	37	c.141	CCDS32495.1	16	.	.	.	.	.	.	.	.	.	.	C	37	6.247968	0.97412	.	.	ENSG00000166558	ENST00000299709	.	.	.	5.01	5.01	0.66863	.	0.141064	0.52532	D	0.000080	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-15.4956	18.33	0.90265	0.0:1.0:0.0:0.0	.	.	.	.	X	47	.	ENSP00000299709:W47X	W	-	3	0	SLC38A8	82633123	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.508000	0.67006	2.323000	0.78572	0.650000	0.86243	TGG	-	HMMPfam_Aa_trans		0.642	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	SLC38A8	protein_coding	OTTHUMT00000432623.1	C	NM_001080442		82633123	-1	no_errors	NM_001080442	genbank	human	provisional	54_36p	nonsense	SNP	1.000	T
VCAN	1462	genome.wustl.edu	37	5	82816312	82816312	+	Silent	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr5:82816312T>C	ENST00000265077.3	+	7	2752	c.2187T>C	c.(2185-2187)tcT>tcC	p.S729S	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000512590.2_Silent_p.S681S|VCAN_ENST00000342785.4_Silent_p.S729S	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	729	GAG-alpha (glucosaminoglycan attachment domain).				carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	TCTCTACATCTCTCTCAGAGC	0.373																																																0			5											71.0	73.0	73.0					5																	82816312		2202	4300	6502	82852068	SO:0001819	synonymous_variant	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.2187T>C	5.37:g.82816312T>C			82852068	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Silent	SNP	HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,superfamily_C-type lectin-like,HMMSmart_SM00445,HMMPfam_Xlink,PatternScan_LINK_1,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00179,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,PatternScan_ASX_HYDROXYL,HMMSmart_SM00034,HMMPfam_Lectin_C,PatternScan_C_TYPE_LECTIN_1,superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032	p.S729	ENST00000265077.3	37	c.2187	CCDS4060.1	5																																																																																			-	NULL		0.373	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	protein_coding	OTTHUMT00000254092.3	T	NM_004385		82852068	+1	no_errors	NM_004385	genbank	human	validated	54_36p	silent	SNP	0.129	C
THAP9	79725	genome.wustl.edu	37	4	83838937	83838937	+	Missense_Mutation	SNP	G	G	T	rs142358186		TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr4:83838937G>T	ENST00000302236.5	+	5	1623	c.1572G>T	c.(1570-1572)agG>agT	p.R524S	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	524					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				TTAATAGTAGGAACTGTTATG	0.328																																																0			4											106.0	112.0	110.0					4																	83838937		2203	4300	6503	84057961	SO:0001583	missense	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.1572G>T	4.37:g.83838937G>T	ENSP00000305533:p.Arg524Ser		84057961	B3KRE2|Q59AC9	Missense_Mutation	SNP	HMMPfam_THAP,HMMSmart_DM3	p.R524S	ENST00000302236.5	37	c.1572	CCDS3598.1	4	.	.	.	.	.	.	.	.	.	.	G	9.306	1.054307	0.19907	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	D	0.92048	-2.96	3.87	-1.91	0.07641	.	0.232716	0.30890	N	0.008661	D	0.90181	0.6931	L	0.47016	1.485	0.80722	D	1	D	0.58268	0.982	P	0.52554	0.702	D	0.86937	0.2077	10	0.62326	D	0.03	-19.58	10.5817	0.45259	0.5765:0.0:0.4235:0.0	.	524	Q9H5L6	THAP9_HUMAN	S	524	ENSP00000305533:R524S	ENSP00000305533:R524S	R	+	3	2	THAP9	84057961	0.983000	0.35010	0.943000	0.38184	0.038000	0.13279	0.001000	0.13038	-0.523000	0.06409	-0.137000	0.14449	AGG	-	NULL		0.328	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP9	protein_coding	OTTHUMT00000252633.1	G	NM_024672		84057961	+1	no_errors	NM_024672	genbank	human	validated	54_36p	missense	SNP	1.000	T
SLC7A13	157724	genome.wustl.edu	37	8	87241992	87241992	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr8:87241992C>G	ENST00000297524.3	-	1	618	c.515G>C	c.(514-516)aGc>aCc	p.S172T	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.S172T	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	172						integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GGAAATGAAGCTAAGTATGGA	0.418																																																0			8											141.0	125.0	130.0					8																	87241992		2203	4300	6503	87311108	SO:0001583	missense	157724			AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.515G>C	8.37:g.87241992C>G	ENSP00000297524:p.Ser172Thr		87311108	Q05C37|Q08AH9|Q96N84	Missense_Mutation	SNP	HMMPfam_AA_permease	p.S172T	ENST00000297524.3	37	c.515	CCDS34917.1	8	.	.	.	.	.	.	.	.	.	.	C	4.034	0.003838	0.07866	.	.	ENSG00000164893	ENST00000297524;ENST00000419776	D;D	0.89415	-2.51;-2.51	4.87	3.97	0.46021	Amino acid permease domain (1);	0.895934	0.09690	N	0.768499	D	0.85141	0.5629	L	0.40543	1.245	0.09310	N	1	B;P	0.39044	0.13;0.656	B;B	0.41894	0.064;0.369	T	0.73902	-0.3836	10	0.33141	T	0.24	.	8.179	0.31300	0.1795:0.6469:0.1736:0.0	.	172;172	Q8TCU3-2;Q8TCU3	.;S7A13_HUMAN	T	172	ENSP00000297524:S172T;ENSP00000410982:S172T	ENSP00000297524:S172T	S	-	2	0	SLC7A13	87311108	0.022000	0.18835	0.019000	0.16419	0.045000	0.14185	0.962000	0.29280	1.363000	0.46019	0.609000	0.83330	AGC	-	HMMPfam_AA_permease		0.418	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A13	protein_coding	OTTHUMT00000374704.1	C	NM_138817		87311108	-1	no_errors	NM_138817	genbank	human	validated	54_36p	missense	SNP	0.004	G
ANKRD11	29123	genome.wustl.edu	37	16	89371663	89371663	+	Silent	SNP	C	C	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr16:89371663C>T	ENST00000301030.4	-	4	637	c.177G>A	c.(175-177)aaG>aaA	p.K59K	ANKRD11_ENST00000378330.2_Silent_p.K59K|ANKRD11_ENST00000567736.1_5'UTR|ANKRD11_ENST00000563291.1_Silent_p.K59K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	59					bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGAAGGGCAGCTTCCGCTTGC	0.612																																																0			16											66.0	66.0	66.0					16																	89371663		2198	4300	6498	87899164	SO:0001819	synonymous_variant	29123			AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.177G>A	16.37:g.89371663C>T			87899164	Q6NTG1|Q6QMF8	Silent	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank	p.K59	ENST00000301030.4	37	c.177	CCDS32513.1	16																																																																																			-	NULL		0.612	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD11	protein_coding	OTTHUMT00000430462.3	C	NM_013275		87899164	-1	no_errors	NM_013275	genbank	human	validated	54_36p	silent	SNP	1.000	T
GLUD1	2746	genome.wustl.edu	37	10	88854398	88854398	+	Silent	SNP	C	C	A	rs140734189		TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr10:88854398C>A	ENST00000277865.4	-	1	225	c.129G>T	c.(127-129)ccG>ccT	p.P43P	FAM35A_ENST00000298784.1_5'Flank|GLUD1_ENST00000537649.1_5'Flank|GLUD1_ENST00000544149.1_5'Flank|FAM35A_ENST00000298786.4_5'Flank	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	43					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	ATGCCAGCCCCGGCTGCGGGG	0.761																																																0			10											15.0	20.0	19.0					10																	88854398		2101	4154	6255	88844378	SO:0001819	synonymous_variant	2746			M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.129G>T	10.37:g.88854398C>A			88844378	B3KV55|B4DGN5|Q5TBU3	Silent	SNP	superfamily_SSF53223,HMMPfam_ELFV_dehydrog_N,PatternScan_GLFV_DEHYDROGENASE,HMMPfam_ELFV_dehydrog,superfamily_NAD(P)-bd	p.P43	ENST00000277865.4	37	c.129	CCDS7382.1	10	.	.	.	.	.	.	.	.	.	.	C	4.624	0.116014	0.08831	.	.	ENSG00000148672	ENST00000394415	.	.	.	3.86	-1.23	0.09465	.	.	.	.	.	T	0.62865	0.2463	.	.	.	0.35508	D	0.800337	.	.	.	.	.	.	T	0.71059	-0.4702	5	0.62326	D	0.03	.	11.6356	0.51202	0.0:0.2707:0.6425:0.0868	.	.	.	.	W	17	.	ENSP00000377937:G17W	G	-	1	0	GLUD1	88844378	1.000000	0.71417	0.006000	0.13384	0.052000	0.14988	3.467000	0.53078	-0.078000	0.12730	0.313000	0.20887	GGG	-	NULL		0.761	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUD1	protein_coding	OTTHUMT00000049188.1	C	NM_005271		88844378	-1	no_errors	NM_005271	genbank	human	validated	54_36p	silent	SNP	0.487	A
IGKV2D-24	28885	genome.wustl.edu	37	2	90044214	90044214	+	RNA	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:90044214T>C	ENST00000462693.1	+	0	165									immunoglobulin kappa variable 2D-24 (non-functional)																		CCTTCAGGTCTAGTCAAAGCC	0.512																																																0			2											109.0	112.0	111.0					2																	90044214		1895	4110	6005	89681519			0			X63401		2p11.2	2012-02-08	2008-09-10		ENSG00000241566	ENSG00000241566		"""Immunoglobulins / IGK locus"""	5797	other	immunoglobulin gene			"""immunoglobulin kappa variable 2D-24"""				Standard	NG_000833		Approved				OTTHUMG00000151618		2.37:g.90044214T>C			89681519		Silent	SNP	HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv	p.S45	ENST00000462693.1	37	c.135		2																																																																																			-	HMMPfam_V-set,superfamily_SSF48726,HMMSmart_IGv		0.512	IGKV2D-24-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	ENSG00000211624	IG_V_gene	OTTHUMT00000323290.1	T	NG_000833		89681519	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000390269	ensembl	human	known	54_36p	silent	SNP	0.990	C
FZD1	8321	genome.wustl.edu	37	7	90895133	90895133	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr7:90895133C>T	ENST00000287934.2	+	1	1351	c.938C>T	c.(937-939)cCc>cTc	p.P313L		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	313					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TACTTCGGGCCCGAGGAGCTG	0.612																																																0			7											83.0	73.0	77.0					7																	90895133		2203	4300	6503	90733069	SO:0001583	missense	8321			AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.938C>T	7.37:g.90895133C>T	ENSP00000287934:p.Pro313Leu		90733069	A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	HMMPfam_Fz,superfamily_Frizzled cysteine-rich domain,HMMSmart_SM00063,HMMPfam_Frizzled	p.P313L	ENST00000287934.2	37	c.938	CCDS5620.1	7	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326459	0.41197	.	.	ENSG00000157240	ENST00000287934	D	0.81579	-1.51	4.63	4.63	0.57726	.	0.191996	0.35585	N	0.003104	T	0.72486	0.3466	L	0.27053	0.805	0.54753	D	0.999989	B	0.11235	0.004	B	0.18263	0.021	T	0.68375	-0.5425	10	0.44086	T	0.13	.	17.658	0.88183	0.0:1.0:0.0:0.0	.	313	Q9UP38	FZD1_HUMAN	L	313	ENSP00000287934:P313L	ENSP00000287934:P313L	P	+	2	0	FZD1	90733069	0.240000	0.23847	0.934000	0.37439	0.827000	0.46813	2.468000	0.45102	2.396000	0.81511	0.511000	0.50034	CCC	-	HMMPfam_Frizzled		0.612	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD1	protein_coding	OTTHUMT00000059367.2	C	NM_003505		90733069	+1	no_errors	NM_003505	genbank	human	reviewed	54_36p	missense	SNP	0.999	T
SPTLC1	10558	genome.wustl.edu	37	9	94877597	94877597	+	Splice_Site	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr9:94877597T>C	ENST00000262554.2	-	1	61	c.56A>G	c.(55-57)gAg>gGg	p.E19G	SPTLC1_ENST00000337841.4_Splice_Site_p.E19G|SPTLC1_ENST00000482632.1_5'UTR	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	19					ceramide biosynthetic process (GO:0046513)|small molecule metabolic process (GO:0044281)|sphinganine biosynthetic process (GO:0046511)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingomyelin biosynthetic process (GO:0006686)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)|SPOTS complex (GO:0035339)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)	GGAGCCCACCTCGTAAAGCGC	0.672																																																0			9											33.0	37.0	36.0					9																	94877597		2202	4296	6498	93917418	SO:0001630	splice_region_variant	10558			Y08685	CCDS6692.1, CCDS6693.1	9q22.31	2014-09-17	2003-12-02		ENSG00000090054	ENSG00000090054	2.3.1.50		11277	protein-coding gene	gene with protein product		605712	"""hereditary sensory neuropathy, type 1"""	HSN1		9363775	Standard	NM_006415		Approved	LCB1, SPTI, HSAN1, hLCB1	uc004arl.1	O15269	OTTHUMG00000021047	ENST00000262554.2:c.57+1A>G	9.37:g.94877597T>C			93917418	A8K681|Q5VWB4|Q96IX6	Missense_Mutation	SNP	superfamily_PLP-dependent transferases,HMMPfam_Aminotran_1_2	p.E19G	ENST00000262554.2	37	c.56	CCDS6692.1	9	.	.	.	.	.	.	.	.	.	.	T	15.65	2.896410	0.52121	.	.	ENSG00000090054	ENST00000262554;ENST00000337841	D;D	0.95001	-3.58;-2.12	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	D	0.89097	0.6618	N	0.20881	0.62	0.80722	D	1	B;P;B;B	0.36465	0.411;0.554;0.112;0.087	B;B;B;B	0.35550	0.205;0.205;0.051;0.087	D	0.88360	0.2987	10	0.34782	T	0.22	-26.4507	13.4591	0.61217	0.0:0.0:0.0:1.0	.	19;19;14;19	Q6NUL7;Q96IX6;Q59EQ4;O15269	.;.;.;SPTC1_HUMAN	G	19	ENSP00000262554:E19G;ENSP00000337635:E19G	ENSP00000262554:E19G	E	-	2	0	SPTLC1	93917418	1.000000	0.71417	1.000000	0.80357	0.382000	0.30200	5.754000	0.68743	2.013000	0.59113	0.397000	0.26171	GAG	-	NULL		0.672	SPTLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTLC1	protein_coding	OTTHUMT00000055553.1	T	NM_006415	Missense_Mutation	93917418	-1	no_errors	NM_006415	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
CNNM3	26505	genome.wustl.edu	37	2	97498311	97498311	+	Silent	SNP	C	C	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:97498311C>G	ENST00000305510.3	+	8	2110	c.2082C>G	c.(2080-2082)ggC>ggG	p.G694G	ANKRD23_ENST00000476975.1_5'UTR|CNNM3_ENST00000377060.3_Silent_p.G646G	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 3	694					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						GCAGGCCCGGCGTCCCGGTGG	0.577																																																0			2											115.0	130.0	124.0					2																	97498311		2203	4300	6503	96862038	SO:0001819	synonymous_variant	26505			AF216965	CCDS2025.1, CCDS2026.1	2q11.2	2014-08-08	2014-08-07		ENSG00000168763	ENSG00000168763			104	protein-coding gene	gene with protein product		607804	"""cyclin M3"""	ACDP3		21393841, 24632616	Standard	XM_005263917		Approved		uc002swy.3	Q8NE01	OTTHUMG00000130531	ENST00000305510.3:c.2082C>G	2.37:g.97498311C>G			96862038	B3KX67|Q8TBV4|Q96IW4|Q9NRK4|Q9NXW6	Silent	SNP	HMMPfam_DUF21,HMMPfam_CBS	p.G694	ENST00000305510.3	37	c.2082	CCDS2025.1	2																																																																																			-	NULL		0.577	CNNM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM3	protein_coding	OTTHUMT00000252952.2	C	NM_017623		96862038	+1	no_errors	NM_017623	genbank	human	validated	54_36p	silent	SNP	0.000	G
AVPI1	60370	genome.wustl.edu	37	10	99437682	99437682	+	Missense_Mutation	SNP	G	G	A	rs146044000		TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr10:99437682G>A	ENST00000370626.3	-	3	955	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C		NM_021732.2	NP_068378.2	Q5T686	AVPI1_HUMAN	arginine vasopressin-induced 1	130					activation of MAPK activity (GO:0000187)|cell cycle (GO:0007049)					breast(1)|endometrium(1)|large_intestine(2)|skin(1)	5		Colorectal(252;0.162)		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)		CAGTTCCGGCGGATCCTGGCA	0.567																																																0			10											112.0	91.0	98.0					10																	99437682		2203	4300	6503	99427672	SO:0001583	missense	60370			AF131791	CCDS7470.1	10q24.2	2004-04-05			ENSG00000119986	ENSG00000119986			30898	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_021732		Approved	VIP32, PP5395, VIT32	uc001koi.2	Q5T686	OTTHUMG00000018864	ENST00000370626.3:c.388C>T	10.37:g.99437682G>A	ENSP00000359660:p.Arg130Cys		99427672	Q53G32|Q9H2R9|Q9HBN9	Missense_Mutation	SNP	NULL	p.R130C	ENST00000370626.3	37	c.388	CCDS7470.1	10	.	.	.	.	.	.	.	.	.	.	G	25.2	4.613686	0.87359	.	.	ENSG00000119986	ENST00000370626	T	0.50277	0.75	5.11	5.11	0.69529	.	.	.	.	.	T	0.50103	0.1596	L	0.27053	0.805	0.45239	D	0.998243	D	0.71674	0.998	P	0.56916	0.809	T	0.52275	-0.8597	9	0.87932	D	0	-5.4896	14.215	0.65788	0.0:0.0:1.0:0.0	.	130	Q5T686	AVPI1_HUMAN	C	130	ENSP00000359660:R130C	ENSP00000359660:R130C	R	-	1	0	AVPI1	99427672	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.140000	0.50585	2.815000	0.96918	0.561000	0.74099	CGC	-	NULL		0.567	AVPI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPI1	protein_coding	OTTHUMT00000049736.1	G	NM_021732		99427672	-1	no_errors	NM_021732	genbank	human	validated	54_36p	missense	SNP	0.972	A
TRIM56	81844	genome.wustl.edu	37	7	100732293	100732293	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr7:100732293G>C	ENST00000306085.6	+	3	1997	c.1700G>C	c.(1699-1701)aGc>aCc	p.S567T		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	567					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					TTCTCCGCTAGCGCACGGCTC	0.697																																					Ovarian(89;1092 1379 22756 38989 39611)											0			7											55.0	60.0	59.0					7																	100732293		2118	4220	6338	100519013	SO:0001583	missense	81844			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.1700G>C	7.37:g.100732293G>C	ENSP00000305161:p.Ser567Thr		100519013	Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_SM00336,superfamily_NHL repeat	p.S567T	ENST00000306085.6	37	c.1700	CCDS43625.1	7	.	.	.	.	.	.	.	.	.	.	G	2.349	-0.349382	0.05173	.	.	ENSG00000169871	ENST00000306085	T	0.29917	1.55	3.76	1.32	0.21799	Six-bladed beta-propeller, TolB-like (1);	.	.	.	.	T	0.13628	0.0330	N	0.08118	0	0.09310	N	1	B	0.14012	0.009	B	0.10450	0.005	T	0.22941	-1.0202	9	0.39692	T	0.17	.	3.8394	0.08908	0.1944:0.2199:0.5857:0.0	.	567	Q9BRZ2	TRI56_HUMAN	T	567	ENSP00000305161:S567T	ENSP00000305161:S567T	S	+	2	0	TRIM56	100519013	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	0.479000	0.22228	0.297000	0.22615	0.591000	0.81541	AGC	-	superfamily_NHL repeat		0.697	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM56	protein_coding	OTTHUMT00000347185.1	G	NM_030961		100519013	+1	no_errors	NM_030961	genbank	human	provisional	54_36p	missense	SNP	0.000	C
Unknown	0	genome.wustl.edu	37	1	100798155	100798155	+	IGR	SNP	C	C	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr1:100798155C>T								RTCA (39830 upstream) : RP5-837M10.2 (11877 downstream)																							TCATCCTCCTCAGGGCAGCAG	0.537																																																0			1																																								100570743	SO:0001628	intergenic_variant	646970																															1.37:g.100798155C>T			100570743		RNA	SNP	-	NULL		37	NULL		1																																																																																			-	-	0	0.537					LOC646970			C			100570743	-1	pseudogene	XR_017347	genbank	human	model	54_36p	rna	SNP	0.001	T
ITGBL1	9358	genome.wustl.edu	37	13	102235641	102235641	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr13:102235641C>T	ENST00000376180.3	+	6	1022	c.803C>T	c.(802-804)aCc>aTc	p.T268I	ITGBL1_ENST00000376162.3_Missense_Mutation_p.T175I|ITGBL1_ENST00000545560.2_Missense_Mutation_p.T127I	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	268	Cysteine-rich tandem repeats.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)				breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CATGGGGACACCTGTGAATGT	0.463																																																0			13											268.0	253.0	258.0					13																	102235641		2203	4300	6503	101033642	SO:0001583	missense	9358			AF072752	CCDS9499.1, CCDS61361.1, CCDS61362.1, CCDS73594.1	13q33	2008-07-18			ENSG00000198542	ENSG00000198542			6164	protein-coding gene	gene with protein product	"""ten integrin EGF-like repeat domains protein"", ""ITGBL1, integrin beta-like 1"""	604234				10051402	Standard	NM_004791		Approved	TIED, OSCP	uc001vpb.4	O95965	OTTHUMG00000017296	ENST00000376180.3:c.803C>T	13.37:g.102235641C>T	ENSP00000365351:p.Thr268Ile		101033642	A8K5M5|B3KTP1|B4DQ02|Q8N172|Q9NPR0	Missense_Mutation	SNP	HMMPfam_EGF_2,PatternScan_INTEGRIN_BETA,superfamily_SSF57196,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_EGF	p.T268I	ENST00000376180.3	37	c.803	CCDS9499.1	13	.	.	.	.	.	.	.	.	.	.	C	23.7	4.448687	0.84101	.	.	ENSG00000198542	ENST00000376180;ENST00000537118;ENST00000539955;ENST00000545560;ENST00000376162	D;D;D	0.92397	-3.03;-3.03;-3.03	5.07	5.07	0.68467	EGF, extracellular (1);	0.000000	0.85682	D	0.000000	D	0.94830	0.8330	L	0.52266	1.64	0.80722	D	1	D;D	0.76494	0.978;0.999	D;D	0.87578	0.947;0.998	D	0.94846	0.8009	10	0.54805	T	0.06	.	18.4218	0.90594	0.0:1.0:0.0:0.0	.	127;268	B3KTP1;O95965	.;ITGBL_HUMAN	I	268;176;127;127;175	ENSP00000365351:T268I;ENSP00000439903:T127I;ENSP00000365332:T175I	ENSP00000365332:T175I	T	+	2	0	ITGBL1	101033642	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	7.342000	0.79310	2.518000	0.84900	0.591000	0.81541	ACC	-	superfamily_SSF57196		0.463	ITGBL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGBL1	protein_coding	OTTHUMT00000045669.2	C	NM_004791		101033642	+1	no_errors	NM_004791	genbank	human	provisional	54_36p	missense	SNP	1.000	T
TBC1D8B	54885	genome.wustl.edu	37	X	106111653	106111653	+	Nonsense_Mutation	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chrX:106111653C>A	ENST00000357242.5	+	18	2933	c.2759C>A	c.(2758-2760)tCa>tAa	p.S920*	TBC1D8B_ENST00000276175.3_Nonsense_Mutation_p.S914*	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	920							calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAGGATGCTTCAAAAGGAGAT	0.348																																																0			X											85.0	78.0	80.0					X																	106111653		2202	4300	6502	105998309	SO:0001587	stop_gained	54885			AK123957	CCDS14522.1, CCDS14523.1	Xq22.3	2013-01-10			ENSG00000133138	ENSG00000133138		"""EF-hand domain containing"""	24715	protein-coding gene	gene with protein product						8889548	Standard	NM_017752		Approved	FLJ20298, RP11-321G1.1	uc004emo.3	Q0IIM8	OTTHUMG00000022152	ENST00000357242.5:c.2759C>A	X.37:g.106111653C>A	ENSP00000349781:p.Ser920*		105998309	B9A6K5|B9A6K6|Q5JRB7|Q6ZVX5|Q9NXE3	Nonsense_Mutation	SNP	HMMPfam_GRAM,HMMSmart_SM00568,superfamily_Ypt/Rab-GAP domain of gyp1p,HMMPfam_TBC,HMMSmart_SM00164,superfamily_EF-hand,PatternScan_EF_HAND_1	p.S920*	ENST00000357242.5	37	c.2759	CCDS14522.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.219531|9.219531	0.99105|0.99105	.|.	.|.	ENSG00000133138|ENSG00000133138	ENST00000431860|ENST00000357242;ENST00000276175;ENST00000394972	.|.	.|.	.|.	5.88|5.88	5.88|5.88	0.94601|0.94601	.|.	.|0.409866	.|0.24269	.|N	.|0.040018	T|.	0.54208|.	0.1844|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.49399|.	-0.8944|.	3|.	.|0.09338	.|T	.|0.73	-1.0595|-1.0595	17.5848|17.5848	0.87978|0.87978	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	182|920;914;182	.|.	.|ENSP00000276175:S914X	F|S	+|+	3|2	2|0	TBC1D8B|TBC1D8B	105998309|105998309	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	3.746000|3.746000	0.55127|0.55127	2.474000|2.474000	0.83562|0.83562	0.600000|0.600000	0.82982|0.82982	TTC|TCA	-	superfamily_EF-hand,PatternScan_EF_HAND_1		0.348	TBC1D8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D8B	protein_coding	OTTHUMT00000057807.2	C	NM_017752		105998309	+1	no_errors	NM_017752	genbank	human	validated	54_36p	nonsense	SNP	1.000	A
ZFPM2	23414	genome.wustl.edu	37	8	106814620	106814620	+	Nonsense_Mutation	SNP	T	T	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr8:106814620T>A	ENST00000407775.2	+	8	2560	c.2310T>A	c.(2308-2310)tgT>tgA	p.C770*	RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Nonsense_Mutation_p.C638*|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Nonsense_Mutation_p.C638*|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Nonsense_Mutation_p.C501*	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	770					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ATAATCCTTGTACCTCCACTC	0.468																																																0			8											61.0	60.0	61.0					8																	106814620		1945	4149	6094	106883796	SO:0001587	stop_gained	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.2310T>A	8.37:g.106814620T>A	ENSP00000384179:p.Cys770*		106883796	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Nonsense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.C770*	ENST00000407775.2	37	c.2310	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	T	38	6.748862	0.97809	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	.	.	.	5.72	2.1	0.27182	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	8.4023	0.32594	0.0:0.2802:0.0:0.7198	.	.	.	.	X	770;638;638;501	.	ENSP00000367733:C501X	C	+	3	2	ZFPM2	106883796	0.979000	0.34478	0.997000	0.53966	0.982000	0.71751	0.141000	0.16076	0.131000	0.18576	0.459000	0.35465	TGT	-	NULL		0.468	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	protein_coding	OTTHUMT00000380614.1	T			106883796	+1	no_errors	NM_012082	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
LEF1	51176	genome.wustl.edu	37	4	109086252	109086252	+	Splice_Site	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr4:109086252C>A	ENST00000265165.1	-	2	935		c.e2+1		LEF1_ENST00000379951.2_Splice_Site|LEF1_ENST00000510624.1_Splice_Site|LEF1_ENST00000512172.1_Splice_Site|LEF1_ENST00000438313.2_Splice_Site|LEF1-AS1_ENST00000436413.1_RNA	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1						alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		GGGTGTCTTACCGTCATCGGG	0.453																																																0			4											233.0	194.0	207.0					4																	109086252		2203	4300	6503	109305701	SO:0001630	splice_region_variant	51176				CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.280+1G>T	4.37:g.109086252C>A			109305701	B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Splice_Site	SNP	-	e2+1	ENST00000265165.1	37	c.280+1	CCDS3679.1	4	.	.	.	.	.	.	.	.	.	.	C	16.01	3.000534	0.54254	.	.	ENSG00000138795	ENST00000265165;ENST00000379951;ENST00000438313;ENST00000510624;ENST00000515500;ENST00000512172	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0693	0.97712	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LEF1	109305701	1.000000	0.71417	1.000000	0.80357	0.585000	0.36419	5.325000	0.65869	2.758000	0.94735	0.563000	0.77884	.	-	-		0.453	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEF1	protein_coding	OTTHUMT00000254749.2	C		Intron	109305701	-1	no_errors	NM_016269	genbank	human	validated	54_36p	splice_site	SNP	1.000	A
TMEM74	157753	genome.wustl.edu	37	8	109797180	109797180	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr8:109797180G>C	ENST00000297459.3	-	2	326	c.148C>G	c.(148-150)Cca>Gca	p.P50A	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	50					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GTTGCTCTTGGGGTGGATGCA	0.542																																																0			8											97.0	96.0	96.0					8																	109797180		2203	4300	6503	109866356	SO:0001583	missense	157753			AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.148C>G	8.37:g.109797180G>C	ENSP00000297459:p.Pro50Ala		109866356		Missense_Mutation	SNP	NULL	p.P50A	ENST00000297459.3	37	c.148	CCDS6310.1	8	.	.	.	.	.	.	.	.	.	.	G	0.055	-1.239875	0.01493	.	.	ENSG00000164841	ENST00000297459	.	.	.	5.71	4.83	0.62350	.	0.305497	0.32430	N	0.006116	T	0.20495	0.0493	N	0.24115	0.695	0.09310	N	1	B	0.27068	0.167	B	0.31101	0.124	T	0.26360	-1.0105	9	0.08599	T	0.76	-1.259	6.0608	0.19837	0.072:0.1345:0.6544:0.1392	.	50	Q96NL1	TMM74_HUMAN	A	50	.	ENSP00000297459:P50A	P	-	1	0	TMEM74	109866356	0.007000	0.16637	0.006000	0.13384	0.016000	0.09150	0.825000	0.27393	1.410000	0.46936	0.655000	0.94253	CCA	-	NULL		0.542	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM74	protein_coding	OTTHUMT00000380755.1	G	NM_153015		109866356	-1	no_errors	NM_153015	genbank	human	provisional	54_36p	missense	SNP	0.000	C
APC	324	genome.wustl.edu	37	5	112173865	112173865	+	Silent	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr5:112173865T>C	ENST00000457016.1	+	16	2954	c.2574T>C	c.(2572-2574)atT>atC	p.I858I	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Silent_p.I858I|APC_ENST00000257430.4_Silent_p.I858I			P25054	APC_HUMAN	adenomatous polyposis coli	858	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.I858fs*52(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)		AACGCGGAATTGGTCTAGGCA	0.448		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	2	Unknown(1)|Deletion - Frameshift(1)	pancreas(1)|skin(1)	5											70.0	71.0	70.0					5																	112173865		2202	4300	6502	112201764	SO:0001819	synonymous_variant	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2574T>C	5.37:g.112173865T>C			112201764	D3DT03|Q15162|Q15163|Q93042	Silent	SNP	superfamily_ARM repeat,HMMSmart_SM00185,HMMPfam_Arm,HMMPfam_APC_15aa,HMMPfam_APC_crr,HMMPfam_SAMP,HMMPfam_APC_basic,HMMPfam_EB1_binding	p.I858	ENST00000457016.1	37	c.2574	CCDS4107.1	5																																																																																			-	NULL		0.448	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	APC	protein_coding	OTTHUMT00000250738.2	T	NM_000038		112201764	+1	no_errors	NM_000038	genbank	human	reviewed	54_36p	silent	SNP	0.023	C
IL36B	27177	genome.wustl.edu	37	2	113788727	113788727	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:113788727C>A	ENST00000259213.4	-	3	126	c.19G>T	c.(19-21)Gca>Tca	p.A7S	IL36B_ENST00000327407.2_Missense_Mutation_p.A7S	NM_014438.3	NP_055253.2	Q9NZH7	IL36B_HUMAN	interleukin 36, beta	7					immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-1 receptor binding (GO:0005149)			kidney(1)|ovary(1)|pancreas(1)	3						TTGGGTGCTGCCTCCCCTGCC	0.463																																																0			2											90.0	80.0	84.0					2																	113788727		2203	4300	6503	113505198	SO:0001583	missense	27177			AF201833	CCDS2109.1, CCDS2110.1	2q14	2011-07-14	2011-06-06	2011-06-06	ENSG00000136696	ENSG00000136696		"""Interleukins and interleukin receptors"""	15564	protein-coding gene	gene with protein product		605508	"""interleukin 1 family, member 8 (eta)"""	IL1F8		10625660, 10512743, 16646978	Standard	NM_173178		Approved	FIL1, IL-1H2, IL-1F8, FILI-(ETA), IL1-ETA, IL1H2, MGC126880, MGC126882	uc002tiq.1	Q9NZH7	OTTHUMG00000131338	ENST00000259213.4:c.19G>T	2.37:g.113788727C>A	ENSP00000259213:p.Ala7Ser		113505198	Q3MIH0|Q53SR6|Q7RTZ7|Q9UHA5	Missense_Mutation	SNP	superfamily_Cytokine	p.A7S	ENST00000259213.4	37	c.19	CCDS2109.1	2	.	.	.	.	.	.	.	.	.	.	c	1.767	-0.485265	0.04352	.	.	ENSG00000136696	ENST00000259213;ENST00000327407	T;T	0.35048	2.34;1.33	2.66	-4.56	0.03431	.	2.945810	0.01464	N	0.016004	T	0.20659	0.0497	N	0.22421	0.69	0.09310	N	1	P;B	0.37276	0.589;0.011	B;B	0.33392	0.163;0.009	T	0.09574	-1.0668	10	0.34782	T	0.22	.	4.6682	0.12676	0.0:0.2509:0.3077:0.4414	.	7;7	Q9NZH7-2;Q9NZH7	.;IL36B_HUMAN	S	7	ENSP00000259213:A7S;ENSP00000328420:A7S	ENSP00000259213:A7S	A	-	1	0	IL36B	113505198	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.051000	0.00628	-1.301000	0.02338	-0.420000	0.06012	GCA	-	superfamily_Cytokine		0.463	IL36B-001	KNOWN	basic|CCDS	protein_coding	IL1F8	protein_coding	OTTHUMT00000254110.1	C	NM_014438		113505198	-1	no_errors	NM_014438	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
RASA3	22821	genome.wustl.edu	37	13	114780758	114780758	+	Silent	SNP	A	A	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr13:114780758A>G	ENST00000334062.7	-	14	1453	c.1332T>C	c.(1330-1332)tcT>tcC	p.S444S	RASA3_ENST00000389544.4_Silent_p.S412S	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	444	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AGCTCACCCCAGACTCAGTGA	0.637																																																0			13											122.0	106.0	111.0					13																	114780758		2203	4300	6503	113798860	SO:0001819	synonymous_variant	22821				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.1332T>C	13.37:g.114780758A>G			113798860	A6NL15|F8W6X8|Q8IUY2	Silent	SNP	superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,HMMSmart_RasGAP,superfamily_Rho_GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMSmart_BTK,HMMPfam_BTK	p.S444	ENST00000334062.7	37	c.1332	CCDS32016.1	13																																																																																			-	HMMSmart_RasGAP,superfamily_Rho_GAP,HMMPfam_RasGAP		0.637	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASA3	protein_coding	OTTHUMT00000045957.2	A	NM_007368		113798860	-1	no_errors	NM_007368	genbank	human	reviewed	54_36p	silent	SNP	0.887	G
TG	7038	genome.wustl.edu	37	8	133913619	133913619	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr8:133913619T>C	ENST00000220616.4	+	16	3495	c.3455T>C	c.(3454-3456)cTc>cCc	p.L1152P	TG_ENST00000377869.1_Missense_Mutation_p.L1152P	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1152	Thyroglobulin type-1 10. {ECO:0000255|PROSITE-ProRule:PRU00500}.				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)				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)		TGCAATGTGCTCAAGAGTGGA	0.607																																																0			8											80.0	76.0	77.0					8																	133913619		2203	4300	6503	133982801	SO:0001583	missense	7038			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.3455T>C	8.37:g.133913619T>C	ENSP00000220616:p.Leu1152Pro		133982801	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	superfamily_Thyroglobulin type-1 domain,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_SM00211,superfamily_TNF receptor-like,HMMPfam_GCC2_GCC3,HMMPfam_COesterase,superfamily_alpha/beta-Hydrolases,PatternScan_CARBOXYLESTERASE_B_2	p.L1152P	ENST00000220616.4	37	c.3455	CCDS34944.1	8	.	.	.	.	.	.	.	.	.	.	T	10.55	1.380529	0.24944	.	.	ENSG00000042832	ENST00000377869;ENST00000220616	T;T	0.66995	-0.24;-0.24	5.12	5.12	0.69794	Thyroglobulin type-1 (2);	0.755768	0.10987	N	0.612016	T	0.71854	0.3389	M	0.83603	2.65	0.23192	N	0.99815	B	0.24258	0.1	B	0.28916	0.096	T	0.63440	-0.6637	10	0.41790	T	0.15	.	12.8933	0.58084	0.0:0.0:0.0:1.0	.	1152	P01266	THYG_HUMAN	P	1152	ENSP00000367100:L1152P;ENSP00000220616:L1152P	ENSP00000220616:L1152P	L	+	2	0	TG	133982801	0.251000	0.23961	0.286000	0.24833	0.379000	0.30106	3.864000	0.56024	1.926000	0.55796	0.533000	0.62120	CTC	-	superfamily_Thyroglobulin type-1 domain,HMMPfam_Thyroglobulin_1		0.607	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	protein_coding	OTTHUMT00000379606.1	T	NM_003235		133982801	+1	no_errors	NM_003235	genbank	human	validated	54_36p	missense	SNP	0.042	C
OLFM1	10439	genome.wustl.edu	37	9	137987745	137987745	+	Missense_Mutation	SNP	C	C	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr9:137987745C>G	ENST00000371793.3	+	3	587	c.336C>G	c.(334-336)gaC>gaG	p.D112E	OLFM1_ENST00000277415.11_Missense_Mutation_p.D94E|OLFM1_ENST00000392991.4_Missense_Mutation_p.D112E|OLFM1_ENST00000371796.3_Missense_Mutation_p.D85E|OLFM1_ENST00000252854.4_Missense_Mutation_p.D94E	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	112					negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		AGGTCTTGGACAGGCGGACCC	0.507																																																0			9											156.0	134.0	141.0					9																	137987745		2203	4300	6503	137127566	SO:0001583	missense	10439			AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.336C>G	9.37:g.137987745C>G	ENSP00000360858:p.Asp112Glu		137127566	Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	NULL	p.D94E	ENST00000371793.3	37	c.282		9	.	.	.	.	.	.	.	.	.	.	c	14.46	2.541410	0.45280	.	.	ENSG00000130558	ENST00000277415;ENST00000252854;ENST00000339720;ENST00000371796;ENST00000539529;ENST00000392991;ENST00000371793;ENST00000539877	T;T;T;T;T;T;T;T	0.46063	2.8;0.88;2.8;0.88;0.88;2.8;0.88;0.88	4.69	4.69	0.59074	.	0.049334	0.85682	D	0.000000	T	0.42494	0.1205	L	0.38838	1.175	0.52501	D	0.999959	P;B;B;P	0.48016	0.904;0.3;0.01;0.767	P;B;B;P	0.50082	0.63;0.2;0.053;0.545	T	0.14172	-1.0482	10	0.11182	T	0.66	.	17.6729	0.88223	0.0:1.0:0.0:0.0	.	112;112;94;94	Q99784;Q99784-2;Q6IMJ8;Q6IMJ7	NOE1_HUMAN;.;.;.	E	94;94;101;85;29;112;112;9	ENSP00000277415:D94E;ENSP00000252854:D94E;ENSP00000340318:D101E;ENSP00000360861:D85E;ENSP00000444296:D29E;ENSP00000376717:D112E;ENSP00000360858:D112E;ENSP00000443806:D9E	ENSP00000252854:D94E	D	+	3	2	OLFM1	137127566	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.891000	0.56227	2.179000	0.69175	0.632000	0.83419	GAC	-	NULL		0.507	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	OLFM1	protein_coding	OTTHUMT00000054974.1	C	NM_014279		137127566	+1	no_errors	NM_006334	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
CDC23	8697	genome.wustl.edu	37	5	137525396	137525396	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr5:137525396C>T	ENST00000394886.2	-	15	1579	c.1549G>A	c.(1549-1551)Gcc>Acc	p.A517T		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	517					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of exit from mitosis (GO:0007096)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TAGTACTGGGCCAGATAGCGA	0.378																																																0			5											90.0	83.0	85.0					5																	137525396		2203	4300	6503	137553295	SO:0001583	missense	8697			AF053977	CCDS4200.2	5q31	2013-01-17	2013-01-17		ENSG00000094880	ENSG00000094880		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1724	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 8"""	603462	"""CDC23 (cell division cycle 23, yeast, homolog)"", ""cell division cycle 23 homolog (S. cerevisiae)"""			9790767	Standard	NM_004661		Approved	APC8, ANAPC8, CUT23	uc003lcl.3	Q9UJX2	OTTHUMG00000129198	ENST00000394886.2:c.1549G>A	5.37:g.137525396C>T	ENSP00000378350:p.Ala517Thr		137553295	A8K6E5|B4E3A2|B7WP05|D3DQB7|O75433|Q53FN2|Q9BS73	Missense_Mutation	SNP	HMMPfam_APC8,superfamily_TPR-like,HMMSmart_SM00028,HMMPfam_TPR_1	p.A517T	ENST00000394886.2	37	c.1549	CCDS4200.2	5	.	.	.	.	.	.	.	.	.	.	C	33	5.275929	0.95459	.	.	ENSG00000094880	ENST00000394886	T	0.55052	0.54	5.27	5.27	0.74061	Tetratricopeptide-like helical (1);	0.051011	0.85682	D	0.000000	T	0.62073	0.2398	L	0.52905	1.665	0.80722	D	1	D	0.60160	0.987	P	0.52343	0.696	T	0.63821	-0.6550	10	0.56958	D	0.05	-7.5144	19.0709	0.93136	0.0:1.0:0.0:0.0	.	517	Q9UJX2	CDC23_HUMAN	T	517	ENSP00000378350:A517T	ENSP00000378350:A517T	A	-	1	0	CDC23	137553295	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.922000	0.70036	2.745000	0.94114	0.462000	0.41574	GCC	-	superfamily_TPR-like,HMMSmart_SM00028		0.378	CDC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC23	protein_coding	OTTHUMT00000251275.2	C			137553295	-1	no_errors	NM_004661	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
MCF2	4168	genome.wustl.edu	37	X	138695388	138695388	+	Intron	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chrX:138695388T>C	ENST00000370576.4	-	10	1573				MCF2_ENST00000370573.4_Intron|MCF2_ENST00000370578.4_Intron|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000536274.1_Intron|MCF2_ENST00000338585.6_Silent_p.K466K|MCF2_ENST00000520602.1_Intron|MCF2_ENST00000414978.1_Intron|MCF2_ENST00000519895.1_Silent_p.K526K	NM_001171879.1|NM_005369.4	NP_001165350.1|NP_005360.3	P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence						apoptotic signaling pathway (GO:0097190)|dendrite development (GO:0016358)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TTGAAAAAAGTTTACATGCTT	0.308																																																0			X																																								138523054	SO:0001627	intron_variant	4168				CCDS14667.1, CCDS48175.1, CCDS55514.1, CCDS55515.1, CCDS55516.1, CCDS55517.1	Xq26.3-q27.1	2012-07-24			ENSG00000101977	ENSG00000101977		"""Rho guanine nucleotide exchange factors"""	6940	protein-coding gene	gene with protein product	"""Oncogene MCF2 (oncogene DBL)"""	311030				2577874, 1611909	Standard	NM_001099855		Approved	DBL, ARHGEF21	uc011mwo.1	P10911	OTTHUMG00000022537	ENST00000370576.4:c.1363+1651A>G	X.37:g.138695388T>C			138523054	B7Z3Y5|B7Z869|B7ZAV1|E9PH77|F5H091|P14919|Q5JYJ2|Q5JYJ3|Q5JYJ4|Q8IUF3|Q8IUF4|Q9UJB3	Silent	SNP	superfamily_Spectrin repeat,HMMSmart_SM00150,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,PatternScan_DH_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233	p.K466	ENST00000370576.4	37	c.1398	CCDS14667.1	X																																																																																			-	NULL		0.308	MCF2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MCF2	protein_coding	OTTHUMT00000058560.1	T	NM_005369		138523054	-1	no_errors	ENST00000338585	ensembl	human	known	54_36p	silent	SNP	1.000	C
PCDHGA2	56113	genome.wustl.edu	37	5	140718919	140718919	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr5:140718919C>A	ENST00000394576.2	+	1	381	c.381C>A	c.(379-381)aaC>aaA	p.N127K	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	127	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGATATTAACGATAATGCCC	0.438																																																0			5											65.0	67.0	66.0					5																	140718919		2203	4300	6503	140699103	SO:0001583	missense	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.381C>A	5.37:g.140718919C>A	ENSP00000378077:p.Asn127Lys		140699103	Q52LL6|Q9Y5D5	Missense_Mutation	SNP	HMMSmart_SM00112,superfamily_Cadherin-like,HMMPfam_Cadherin_2,PatternScan_CADHERIN_1,HMMPfam_Cadherin	p.N127K	ENST00000394576.2	37	c.381	CCDS47289.1	5	.	.	.	.	.	.	.	.	.	.	.	13.83	2.352754	0.41700	.	.	ENSG00000081853	ENST00000394576	T	0.70869	-0.52	5.26	-5.34	0.02705	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.44097	U	0.000490	D	0.90532	0.7033	H	0.99960	5.065	0.20489	N	0.999891	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84469	0.0598	10	0.87932	D	0	.	16.6462	0.85177	0.0:0.2824:0.0:0.7176	.	127;127	Q9Y5H1-2;Q9Y5H1	.;PCDG2_HUMAN	K	127	ENSP00000378077:N127K	ENSP00000378077:N127K	N	+	3	2	PCDHGA2	140699103	0.000000	0.05858	0.522000	0.27862	0.753000	0.42808	-3.129000	0.00591	-1.159000	0.02807	-0.140000	0.14226	AAC	-	HMMSmart_SM00112,PatternScan_CADHERIN_1,superfamily_Cadherin-like		0.438	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	protein_coding	OTTHUMT00000374738.1	C	NM_018915		140699103	+1	no_errors	NM_018915	genbank	human	reviewed	54_36p	missense	SNP	0.937	A
GPR126	57211	genome.wustl.edu	37	6	142726906	142726906	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr6:142726906G>T	ENST00000230173.6	+	15	2685	c.2209G>T	c.(2209-2211)Gat>Tat	p.D737Y	GPR126_ENST00000296932.8_Missense_Mutation_p.D709Y|GPR126_ENST00000367609.3_Missense_Mutation_p.D737Y|GPR126_ENST00000367608.2_Missense_Mutation_p.D709Y	NM_020455.5	NP_065188	Q86SQ4	GP126_HUMAN	G protein-coupled receptor 126	737					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D708Y(1)|p.D737Y(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		AAGTCCAGAAGATTCTGTATT	0.363																																																2	Substitution - Missense(2)	large_intestine(2)	6											91.0	86.0	88.0					6																	142726906		1825	4077	5902	142768599	SO:0001583	missense	57211			AK027843	CCDS47489.1, CCDS47490.1, CCDS47491.1, CCDS55064.1	6q23.1-q24.3	2014-08-08			ENSG00000112414	ENSG00000112414		"""-"", ""GPCR / Class B : Orphans"""	13841	protein-coding gene	gene with protein product		612243				12565841	Standard	NM_001032395		Approved	FLJ14937	uc010khe.3	Q86SQ4	OTTHUMG00000015709	ENST00000230173.6:c.2209G>T	6.37:g.142726906G>T	ENSP00000230173:p.Asp737Tyr		142768599	Q5TGN7|Q6DHZ4|Q6F3F5|Q6F3F6|Q6F3F7|Q6F3F8|Q6MZU7|Q8IXA4|Q8NC14|Q96JW0	Missense_Mutation	SNP	superfamily_CUB,HMMPfam_CUB,HMMSmart_CUB,superfamily_ConA_like_lec_gl,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,superfamily_SSF81321,PatternScan_G_PROTEIN_RECEP_F2_2	p.D737Y	ENST00000230173.6	37	c.2209	CCDS47490.1	6	.	.	.	.	.	.	.	.	.	.	G	17.65	3.442327	0.63067	.	.	ENSG00000112414	ENST00000230173;ENST00000367608;ENST00000296932;ENST00000367609	T;T;T;T	0.27402	1.67;1.67;1.68;1.67	5.79	4.92	0.64577	.	0.577602	0.17629	N	0.167463	T	0.40297	0.1111	L	0.56769	1.78	0.41804	D	0.989936	D;D;D;D	0.63046	0.992;0.983;0.992;0.986	D;P;D;P	0.64144	0.922;0.898;0.922;0.838	T	0.39663	-0.9603	10	0.87932	D	0	.	14.8813	0.70534	0.0688:0.0:0.9312:0.0	.	709;737;709;737	Q86SQ4-4;Q86SQ4-3;Q86SQ4-2;Q86SQ4	.;.;.;GP126_HUMAN	Y	737;709;709;737	ENSP00000230173:D737Y;ENSP00000356580:D709Y;ENSP00000296932:D709Y;ENSP00000356581:D737Y	ENSP00000230173:D737Y	D	+	1	0	GPR126	142768599	1.000000	0.71417	0.943000	0.38184	0.773000	0.43773	2.858000	0.48356	1.431000	0.47355	-0.140000	0.14226	GAT	-	NULL		0.363	GPR126-001	KNOWN	basic|CCDS	protein_coding	GPR126	protein_coding	OTTHUMT00000042487.2	G			142768599	+1	no_errors	NM_198569	genbank	human	validated	54_36p	missense	SNP	0.983	T
CTAGE4	100128553	genome.wustl.edu	37	7	143882723	143882723	+	Silent	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr7:143882723T>C	ENST00000486333.1	+	1	2165	c.2127T>C	c.(2125-2127)gaT>gaC	p.D709D		NM_198495.2	NP_940897.2	Q8IX94	CTGE4_HUMAN	CTAGE family, member 4	709	Pro-rich.					integral component of membrane (GO:0016021)				endometrium(1)|ovary(2)	3						TTCCAGTGGATACAAGGGGCC	0.522																																																0			7											12.0	14.0	13.0					7																	143882723		658	1506	2164	143513656	SO:0001819	synonymous_variant	0			AF338232	CCDS55176.1	7q35	2009-10-15			ENSG00000225932	ENSG00000225932			24772	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 4"""	608910				12839582, 11149944	Standard	NM_198495		Approved	FLJ43692, cTAGE-4	uc010lpc.3	Q8IX94	OTTHUMG00000157997	ENST00000486333.1:c.2127T>C	7.37:g.143882723T>C			143513656	A8K871|O95046	RNA	SNP	-	NULL	ENST00000486333.1	37	NULL	CCDS55176.1	7																																																																																			-	-		0.522	CTAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTAGE4	protein_coding	OTTHUMT00000349970.1	T	NM_198495		143513656	+1	no_errors	XR_038147	genbank	human	model	54_36p	rna	SNP	0.929	C
CYP11B1	1584	genome.wustl.edu	37	8	143961189	143961189	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr8:143961189G>C	ENST00000292427.4	-	1	73	c.41C>G	c.(40-42)cCc>cGc	p.P14R	CYP11B1_ENST00000517471.1_Missense_Mutation_p.P14R|CYP11B1_ENST00000377675.3_Missense_Mutation_p.P14R	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	14					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	GGACAGCCAGGGCACTGCCAT	0.627									Familial Hyperaldosteronism type I																																							0			8											113.0	110.0	111.0					8																	143961189		2203	4300	6503	143958191	SO:0001583	missense	1584	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.41C>G	8.37:g.143961189G>C	ENSP00000292427:p.Pro14Arg		143958191	Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450	p.P14R	ENST00000292427.4	37	c.41	CCDS6392.1	8	.	.	.	.	.	.	.	.	.	.	G	8.407	0.843251	0.16963	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;D;T	0.83591	-0.93;-1.74;-1.29	2.96	2.02	0.26589	.	0.563114	0.13471	N	0.385392	T	0.72669	0.3489	L	0.41824	1.3	0.09310	N	1	B;B;B	0.29531	0.094;0.155;0.247	B;B;B	0.28139	0.059;0.059;0.086	T	0.57429	-0.7813	10	0.26408	T	0.33	.	7.4363	0.27158	0.0:0.0:0.7405:0.2595	.	14;14;14	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	R	14	ENSP00000292427:P14R;ENSP00000428043:P14R;ENSP00000366903:P14R	ENSP00000292427:P14R	P	-	2	0	CYP11B1	143958191	0.052000	0.20516	0.073000	0.20177	0.020000	0.10135	2.141000	0.42168	0.471000	0.27319	0.305000	0.20034	CCC	-	NULL		0.627	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B1	protein_coding	OTTHUMT00000379475.2	G			143958191	-1	no_errors	NM_000497	genbank	human	reviewed	54_36p	missense	SNP	0.041	C
PARP10	84875	genome.wustl.edu	37	8	145059236	145059236	+	Missense_Mutation	SNP	G	G	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr8:145059236G>C	ENST00000313028.7	-	5	1028	c.934C>G	c.(934-936)Ccc>Gcc	p.P312A	PARP10_ENST00000525773.1_Missense_Mutation_p.P324A|PARP10_ENST00000533665.1_5'UTR|PARP10_ENST00000524918.1_Missense_Mutation_p.P312A	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	312					negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCACCATGGGACCTGTCCTC	0.627																																																0			8											79.0	78.0	79.0					8																	145059236		2203	4300	6503	145131224	SO:0001583	missense	84875			AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.934C>G	8.37:g.145059236G>C	ENSP00000325618:p.Pro312Ala		145131224	Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	HMMSmart_UIM,superfamily_SSF56399,HMMPfam_PARP	p.P312A	ENST00000313028.7	37	c.934	CCDS34960.1	8	.	.	.	.	.	.	.	.	.	.	G	9.510	1.105567	0.20632	.	.	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773;ENST00000313059	T;T;T;T	0.33654	2.91;2.88;2.88;1.4	2.53	1.58	0.23477	.	.	.	.	.	T	0.23094	0.0558	L	0.43923	1.385	0.09310	N	1	P;P;B	0.38504	0.634;0.634;0.252	B;B;B	0.30105	0.081;0.111;0.034	T	0.09662	-1.0664	9	0.30078	T	0.28	.	6.0788	0.19931	0.0:0.0:0.6961:0.3039	.	324;312;312	E9PNI7;E9PK67;Q53GL7	.;.;PAR10_HUMAN	A	312;18;312;324;227	ENSP00000431620:P312A;ENSP00000325618:P312A;ENSP00000434776:P324A;ENSP00000314320:P227A	ENSP00000325618:P312A	P	-	1	0	PARP10	145131224	0.001000	0.12720	0.006000	0.13384	0.079000	0.17450	0.737000	0.26144	0.245000	0.21373	0.177000	0.17058	CCC	-	NULL		0.627	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PARP10	protein_coding	OTTHUMT00000383866.1	G	NM_032789		145131224	-1	no_errors	NM_032789	genbank	human	validated	54_36p	missense	SNP	0.000	C
F5	2153	genome.wustl.edu	37	1	169521973	169521973	+	Splice_Site	SNP	C	C	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr1:169521973C>G	ENST00000367797.3	-	8	1320		c.e8-1		F5_ENST00000546081.1_Splice_Site|F5_ENST00000367796.3_Splice_Site	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)						blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	CCTGTATTTTCTTAAAGTGAA	0.338																																																0			1											84.0	91.0	88.0					1																	169521973		2203	4300	6503	167788597	SO:0001630	splice_region_variant	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1119-1G>C	1.37:g.169521973C>G			167788597	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Splice_Site	SNP	-	e8-1	ENST00000367797.3	37	c.1119-1	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.304046	0.81136	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3147	0.90215	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	F5	167788597	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	6.946000	0.75953	2.754000	0.94517	0.655000	0.94253	.	-	-		0.338	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	protein_coding	OTTHUMT00000083712.1	C	NM_000130	Intron	167788597	-1	no_errors	NM_000130	genbank	human	reviewed	54_36p	splice_site	SNP	1.000	G
NSD1	64324	genome.wustl.edu	37	5	176562394	176562394	+	Missense_Mutation	SNP	T	T	A	rs200193622		TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr5:176562394T>A	ENST00000439151.2	+	2	335	c.290T>A	c.(289-291)tTt>tAt	p.F97Y	NSD1_ENST00000361032.4_Missense_Mutation_p.F97Y|NSD1_ENST00000511258.1_Intron|NSD1_ENST00000354179.4_Intron|NSD1_ENST00000347982.4_Intron	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	97					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		TCAGAATCCTTTCAAGACCCT	0.448			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																													Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0			5											84.0	82.0	82.0					5																	176562394		2203	4300	6503	176495000	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.290T>A	5.37:g.176562394T>A	ENSP00000395929:p.Phe97Tyr		176495000	Q96PD8|Q96RN7	Missense_Mutation	SNP	superfamily_Tudor/PWWP/MBT,HMMPfam_PWWP,HMMSmart_SM00293,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_SET domain,HMMSmart_SM00570,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508	p.F97Y	ENST00000439151.2	37	c.290	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	T	11.75	1.732133	0.30684	.	.	ENSG00000165671	ENST00000439151;ENST00000361032	D;D	0.93763	-3.17;-3.28	5.23	5.23	0.72850	.	0.116384	0.39544	N	0.001335	D	0.85287	0.5662	N	0.08118	0	0.80722	D	1	P;P;P	0.51240	0.943;0.905;0.844	B;B;B	0.44278	0.445;0.259;0.347	D	0.84080	0.0384	10	0.14656	T	0.56	.	12.7593	0.57354	0.0:0.0:0.0:1.0	.	97;97;97	Q96L73-3;Q96L73;Q6PJ64	.;NSD1_HUMAN;.	Y	97	ENSP00000395929:F97Y;ENSP00000354310:F97Y	ENSP00000354310:F97Y	F	+	2	0	NSD1	176495000	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	2.782000	0.47758	2.197000	0.70478	0.454000	0.30748	TTT	-	NULL		0.448	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	protein_coding	OTTHUMT00000253412.2	T	NM_172349		176495000	+1	no_errors	NM_022455	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
TTC30A	92104	genome.wustl.edu	37	2	178481562	178481562	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:178481562C>A	ENST00000355689.5	-	1	2132	c.1868G>T	c.(1867-1869)gGc>gTc	p.G623V	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	623					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			TATGTTTGTGCCATAAAGTTC	0.383																																																0			2											202.0	194.0	197.0					2																	178481562		2203	4300	6503	178189808	SO:0001583	missense	92104			AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.1868G>T	2.37:g.178481562C>A	ENSP00000347915:p.Gly623Val		178189808	A8K8N0|Q8IVP2	Missense_Mutation	SNP	superfamily_SSF48452,HMMPfam_TPR_2,HMMSmart_TPR,HMMPfam_TPR_1	p.G623V	ENST00000355689.5	37	c.1868	CCDS2276.1	2	.	.	.	.	.	.	.	.	.	.	C	15.97	2.990329	0.54041	.	.	ENSG00000197557	ENST00000355689;ENST00000545660	T	0.33865	1.39	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.54951	0.1890	M	0.87180	2.865	0.80722	D	1	D	0.54964	0.969	P	0.46543	0.52	T	0.65125	-0.6244	10	0.87932	D	0	.	20.1952	0.98241	0.0:1.0:0.0:0.0	.	623	Q86WT1	TT30A_HUMAN	V	623;84	ENSP00000347915:G623V	ENSP00000347915:G623V	G	-	2	0	TTC30A	178189808	1.000000	0.71417	0.998000	0.56505	0.938000	0.57974	4.179000	0.58290	2.781000	0.95711	0.586000	0.80456	GGC	-	NULL		0.383	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC30A	protein_coding	OTTHUMT00000255728.2	C	NM_152275		178189808	-1	no_errors	NM_152275	genbank	human	validated	54_36p	missense	SNP	0.995	A
TTN	7273	genome.wustl.edu	37	2	179615937	179615937	+	Intron	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:179615937T>C	ENST00000591111.1	-	45	10585				TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Silent_p.R3730R|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTCAAAGTTCTTGAGCTTA	0.343																																																0			2											54.0	53.0	53.0					2																	179615937		2202	4296	6498	179324182	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1913A>G	2.37:g.179615937T>C			179324182	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	Silent	SNP	superfamily_SSF48726,HMMPfam_I-set,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_Titin_Z,HMMPfam_ig,PatternScan_IG_MHC,PatternScan_THIOL_PROTEASE_HIS	p.R3730	ENST00000591111.1	37	c.11190		2																																																																																			-	NULL		0.343	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	T	NM_133378		179324182	-1	no_errors	NM_133379	genbank	human	reviewed	54_36p	silent	SNP	0.008	C
TTN	7273	genome.wustl.edu	37	2	179629349	179629349	+	Missense_Mutation	SNP	A	A	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:179629349A>G	ENST00000591111.1	-	42	10117	c.9893T>C	c.(9892-9894)cTa>cCa	p.L3298P	TTN_ENST00000589042.1_Missense_Mutation_p.L3298P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.L3298P|TTN_ENST00000342175.6_Missense_Mutation_p.L3252P|TTN_ENST00000342992.6_Missense_Mutation_p.L3298P|TTN_ENST00000359218.5_Missense_Mutation_p.L3252P|TTN_ENST00000460472.2_Missense_Mutation_p.L3252P			Q8WZ42	TITIN_HUMAN	titin	13625	Ig-like 19.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCTTCAATTAGCAAAAGCGT	0.473																																																0			2											114.0	110.0	112.0					2																	179629349		2203	4300	6503	179337594	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.9893T>C	2.37:g.179629349A>G	ENSP00000465570:p.Leu3298Pro		179337594	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	PatternScan_THIOL_PROTEASE_HIS,PatternScan_IG_MHC,HMMSmart_IGc2,HMMSmart_IG,HMMPfam_I-set,HMMPfam_ig,HMMPfam_Titin_Z,superfamily_SSF48726	p.L3298P	ENST00000591111.1	37	c.9893		2	.	.	.	.	.	.	.	.	.	.	A	15.68	2.904429	0.52333	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43;-0.43	5.69	5.69	0.88448	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85999	0.5828	M	0.93106	3.38	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.999	D	0.89478	0.3748	9	0.87932	D	0	.	15.956	0.79889	1.0:0.0:0.0:0.0	.	3252;3252;3252;3298;3298	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	P	3298;3252;3252;3252;3252;3298	ENSP00000343764:L3298P;ENSP00000434586:L3252P;ENSP00000340554:L3252P;ENSP00000352154:L3252P;ENSP00000354117:L3298P	ENSP00000340554:L3252P	L	-	2	0	TTN	179337594	1.000000	0.71417	0.887000	0.34795	0.993000	0.82548	9.339000	0.96797	2.167000	0.68274	0.533000	0.62120	CTA	-	HMMSmart_IGc2,HMMPfam_I-set,superfamily_SSF48726		0.473	TTN-019	PUTATIVE	basic	protein_coding	TTN	protein_coding	OTTHUMT00000460310.1	A	NM_133378		179337594	-1	no_errors	NM_133379	genbank	human	reviewed	54_36p	missense	SNP	0.998	G
GLUL	2752	genome.wustl.edu	37	1	182353664	182353664	+	Missense_Mutation	SNP	T	T	C			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr1:182353664T>C	ENST00000331872.6	-	7	1538	c.998A>G	c.(997-999)aAg>aGg	p.K333R	GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000417584.2_Missense_Mutation_p.K333R|GLUL_ENST00000311223.5_Missense_Mutation_p.K333R|GLUL_ENST00000339526.4_Missense_Mutation_p.K333R	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase	333					cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	GTAACCCTTCTTCTCCTGGCC	0.532																																																0			1											92.0	85.0	88.0					1																	182353664		2203	4300	6503	180620287	SO:0001583	missense	2752			AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"""glutamine synthetase"""	138290	"""glutamate-ammonia ligase (glutamine synthase)"""	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.998A>G	1.37:g.182353664T>C	ENSP00000356537:p.Lys333Arg		180620287	Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	Missense_Mutation	SNP	superfamily_Glutamine synthetase N-terminal domain,HMMPfam_Gln-synt_N,PatternScan_GLNA_1,superfamily_Glutamine synthetase/guanido kinase,HMMPfam_Gln-synt_C,PatternScan_GLNA_ATP	p.K333R	ENST00000331872.6	37	c.998	CCDS1344.1	1	.	.	.	.	.	.	.	.	.	.	T	16.18	3.049184	0.55110	.	.	ENSG00000135821	ENST00000331872;ENST00000311223;ENST00000417584;ENST00000339526	D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29	5.34	1.77	0.24775	Glutamine synthetase, catalytic domain (1);Glutamine synthetase/guanido kinase, catalytic domain (1);	0.170510	0.56097	N	0.000028	T	0.81870	0.4914	L	0.53561	1.675	0.43761	D	0.996272	B	0.11235	0.004	B	0.16289	0.015	T	0.73272	-0.4035	10	0.62326	D	0.03	-17.0524	7.7637	0.28968	0.0:0.3339:0.0:0.6661	.	333	P15104	GLNA_HUMAN	R	333	ENSP00000356537:K333R;ENSP00000307900:K333R;ENSP00000398320:K333R;ENSP00000344958:K333R	ENSP00000307900:K333R	K	-	2	0	GLUL	180620287	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	3.829000	0.55760	0.052000	0.16007	0.460000	0.39030	AAG	-	superfamily_Glutamine synthetase/guanido kinase,HMMPfam_Gln-synt_C		0.532	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUL	protein_coding	OTTHUMT00000091043.1	T	NM_002065		180620287	-1	no_errors	NM_001033044	genbank	human	validated	54_36p	missense	SNP	1.000	C
TP63	8626	genome.wustl.edu	37	3	189612176	189612176	+	Missense_Mutation	SNP	G	G	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr3:189612176G>A	ENST00000264731.3	+	14	2017	c.1928G>A	c.(1927-1929)cGa>cAa	p.R643Q	TP63_ENST00000456148.1_Missense_Mutation_p.R545Q|TP63_ENST00000354600.5_Missense_Mutation_p.R549Q|TP63_ENST00000382063.4_Missense_Mutation_p.R558Q|TP63_ENST00000449992.1_Missense_Mutation_p.R464Q|TP63_ENST00000440651.2_Missense_Mutation_p.R639Q|TP63_ENST00000320472.5_3'UTR	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	643	Transactivation inhibition.				apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GATGCTGTGCGATTCACCCTC	0.552										HNSCC(45;0.13)																																						0			3											127.0	116.0	119.0					3																	189612176		2203	4300	6503	191094870	SO:0001583	missense	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.1928G>A	3.37:g.189612176G>A	ENSP00000264731:p.Arg643Gln		191094870	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain,HMMSmart_SM00454,HMMPfam_SAM_2,superfamily_SAM/Pointed domain	p.R643Q	ENST00000264731.3	37	c.1928	CCDS3293.1	3	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952162	0.92660	.	.	ENSG00000073282	ENST00000264731;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000449992;ENST00000456148	D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.81254	0.4784	N	0.19112	0.55	0.80722	D	1	D;D;D	0.57257	0.976;0.976;0.979	P;P;P	0.52710	0.682;0.682;0.707	T	0.79227	-0.1890	9	.	.	.	-14.6124	19.2867	0.94077	0.0:0.0:1.0:0.0	.	464;549;643	Q9H3D4-10;Q9H3D4-2;Q9H3D4	.;.;P63_HUMAN	Q	643;639;558;549;464;545	ENSP00000264731:R643Q;ENSP00000394337:R639Q;ENSP00000371495:R558Q;ENSP00000346614:R549Q;ENSP00000387839:R464Q;ENSP00000389485:R545Q	.	R	+	2	0	TP63	191094870	1.000000	0.71417	1.000000	0.80357	0.558000	0.35554	9.218000	0.95166	2.793000	0.96121	0.655000	0.94253	CGA	-	NULL		0.552	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	protein_coding	OTTHUMT00000343865.1	G	NM_003722		191094870	+1	no_errors	NM_003722	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
HHAT	55733	genome.wustl.edu	37	1	210847704	210847704	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr1:210847704A>T	ENST00000367010.1	+	12	1692	c.1465A>T	c.(1465-1467)Acc>Tcc	p.T489S	HHAT_ENST00000541565.1_Missense_Mutation_p.T352S|HHAT_ENST00000308852.6_Missense_Mutation_p.T444S|HHAT_ENST00000261458.3_Missense_Mutation_p.T489S|HHAT_ENST00000545781.1_Missense_Mutation_p.T426S|HHAT_ENST00000413764.2_Missense_Mutation_p.T489S|HHAT_ENST00000367009.1_Missense_Mutation_p.T179S|HHAT_ENST00000545154.1_Missense_Mutation_p.T490S|HHAT_ENST00000537898.1_Missense_Mutation_p.T424S	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	489					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CTGGGCCCAGACCTACGCCAC	0.602																																																0			1											104.0	83.0	90.0					1																	210847704		2203	4300	6503	208914327	SO:0001583	missense	55733			AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.1465A>T	1.37:g.210847704A>T	ENSP00000355977:p.Thr489Ser		208914327	B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	HMMPfam_MBOAT	p.T489S	ENST00000367010.1	37	c.1465	CCDS1495.1	1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.904586	0.52333	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000367009	T;T;T;T;T;T;T;T;T	0.46451	2.18;0.87;2.08;2.19;2.18;2.18;2.18;2.18;0.89	5.51	5.51	0.81932	.	.	.	.	.	T	0.49795	0.1578	L	0.34521	1.04	0.25804	N	0.984472	D;D;D;D;P	0.67145	0.993;0.996;0.993;0.993;0.765	D;D;D;D;B	0.77557	0.978;0.99;0.978;0.978;0.22	T	0.38735	-0.9647	9	0.30854	T	0.27	.	9.2607	0.37610	0.8394:0.0:0.0:0.1606	.	444;490;352;424;489	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	S	489;352;490;424;426;489;444;489;179	ENSP00000416845:T489S;ENSP00000444995:T352S;ENSP00000438468:T490S;ENSP00000442625:T424S;ENSP00000439229:T426S;ENSP00000261458:T489S;ENSP00000308628:T444S;ENSP00000355977:T489S;ENSP00000355976:T179S	ENSP00000261458:T489S	T	+	1	0	HHAT	208914327	1.000000	0.71417	0.997000	0.53966	0.711000	0.40976	3.053000	0.49901	2.210000	0.71456	0.533000	0.62120	ACC	-	NULL		0.602	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	HHAT	protein_coding	OTTHUMT00000088662.1	A	NM_018194		208914327	+1	no_errors	NM_018194	genbank	human	validated	54_36p	missense	SNP	0.725	T
TNS1	7145	genome.wustl.edu	37	2	218682900	218682900	+	Silent	SNP	G	G	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:218682900G>A	ENST00000171887.4	-	24	4295	c.3843C>T	c.(3841-3843)ggC>ggT	p.G1281G	TNS1_ENST00000419504.1_Silent_p.G1268G|TNS1_ENST00000430930.1_Silent_p.G1260G	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	1281					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		AGGCCAGGTTGCCTTGGTGAG	0.667																																																0			2											19.0	21.0	20.0					2																	218682900		2196	4289	6485	218391145	SO:0001819	synonymous_variant	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.3843C>T	2.37:g.218682900G>A			218391145	Q4ZG71|Q6IPI5	Silent	SNP	superfamily_SSF52799,HMMPfam_PTEN_C2,superfamily_C2_CaLB,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_SSF50729,HMMSmart_PTB,HMMPfam_PTB	p.G1281	ENST00000171887.4	37	c.3843	CCDS2407.1	2																																																																																			-	NULL		0.667	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNS1	protein_coding	OTTHUMT00000256672.2	G	NM_022648		218391145	-1	no_errors	NM_022648	genbank	human	reviewed	54_36p	silent	SNP	0.582	A
SERPINE2	5270	genome.wustl.edu	37	2	224845114	224845114	+	Missense_Mutation	SNP	C	C	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:224845114C>T	ENST00000258405.4	-	7	1231	c.989G>A	c.(988-990)gGg>gAg	p.G330E	SERPINE2_ENST00000409840.3_Splice_Site_p.R329K|SERPINE2_ENST00000409304.1_Splice_Site_p.R329K|SERPINE2_ENST00000447280.2_Splice_Site_p.R341K	NM_001136528.1|NM_006216.3	NP_001130000.1|NP_006207.1	P07093	GDN_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2	330					blood coagulation (GO:0007596)|cerebellar granular layer morphogenesis (GO:0021683)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|innervation (GO:0060384)|long-term synaptic potentiation (GO:0060291)|mating plug formation (GO:0042628)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of platelet activation (GO:0010544)|negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of proteolysis (GO:0045861)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of sodium ion transport (GO:0010766)|positive regulation of astrocyte differentiation (GO:0048711)|regulation of cell migration (GO:0030334)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of timing of cell differentiation (GO:0048505)|secretion by cell (GO:0032940)|secretory granule organization (GO:0033363)|seminal vesicle epithelium development (GO:0061108)	cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extrinsic component of external side of plasma membrane (GO:0031232)|neuromuscular junction (GO:0031594)|platelet alpha granule (GO:0031091)|vesicle (GO:0031982)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GTTTTCTGACCCTGCTTCCAG	0.423																																																0			2											108.0	102.0	104.0					2																	224845114		2203	4300	6503	224553358	SO:0001583	missense	5270			M17783	CCDS2460.1, CCDS46525.1, CCDS46526.1	2q36.1	2014-02-18	2005-08-18		ENSG00000135919	ENSG00000135919		"""Serine (or cysteine) peptidase inhibitors"""	8951	protein-coding gene	gene with protein product	"""glial-derived nexin 1"""	177010	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2"""	PI7		7665170, 24172014	Standard	NM_006216		Approved	PN1, GDN, PNI, nexin	uc002vnu.2	P07093	OTTHUMG00000133163	ENST00000258405.4:c.989G>A	2.37:g.224845114C>T	ENSP00000258405:p.Gly330Glu		224553358	B2R6A4|B4DIF2|Q53S15|Q5D0C4	Missense_Mutation	SNP	HMMPfam_Serpin,superfamily_Serpins,HMMSmart_SM00093,PatternScan_SERPIN	p.G330E	ENST00000258405.4	37	c.989	CCDS2460.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.15|11.15	1.553885|1.553885	0.27739|0.27739	.|.	.|.	ENSG00000135919|ENSG00000135919	ENST00000258405|ENST00000409304;ENST00000409840;ENST00000447280	T|T;T;T	0.74632|0.21031	-0.86|2.03;2.03;2.03	5.91|5.91	4.13|4.13	0.48395|0.48395	Serpin domain (3);|.	1.171400|.	0.06421|.	N|.	0.722345|.	T|T	0.13114|0.13114	0.0318|0.0318	L|L	0.28192|0.28192	0.835|0.835	0.58432|0.58432	D|D	0.999993|0.999993	P|B	0.35628|0.02656	0.513|0.0	B|B	0.39706|0.09377	0.307|0.004	T|T	0.05954|0.05954	-1.0854|-1.0854	10|9	0.33940|0.07325	T|T	0.23|0.83	.|.	12.1182|12.1182	0.53878|0.53878	0.0:0.8608:0.0:0.1392|0.0:0.8608:0.0:0.1392	.|.	330|341	P07093|B4DIF2	GDN_HUMAN|.	E|K	330|329;329;341	ENSP00000258405:G330E|ENSP00000386412:R329K;ENSP00000386969:R329K;ENSP00000415786:R341K	ENSP00000258405:G330E|ENSP00000386412:R329K	G|R	-|-	2|2	0|0	SERPINE2|SERPINE2	224553358|224553358	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.812000|0.812000	0.45895|0.45895	4.730000|4.730000	0.62015|0.62015	0.850000|0.850000	0.35239|0.35239	-0.136000|-0.136000	0.14681|0.14681	GGG|AGG	-	HMMPfam_Serpin,superfamily_Serpins,HMMSmart_SM00093		0.423	SERPINE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SERPINE2	protein_coding	OTTHUMT00000256865.2	C	NM_006216		224553358	-1	no_errors	NM_006216	genbank	human	validated	54_36p	missense	SNP	1.000	T
DOCK10	55619	genome.wustl.edu	37	2	225639812	225639812	+	Missense_Mutation	SNP	G	G	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:225639812G>T	ENST00000258390.7	-	52	5890	c.5823C>A	c.(5821-5823)gaC>gaA	p.D1941E	DOCK10_ENST00000409592.3_Missense_Mutation_p.D1935E	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1941	DHR-2.				regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CATATTTGGGGTCCAAATCCT	0.493																																																0			2											77.0	77.0	77.0					2																	225639812		1976	4164	6140	225348056	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.5823C>A	2.37:g.225639812G>T	ENSP00000258390:p.Asp1941Glu		225348056	B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_Ded_cyto	p.D1941E	ENST00000258390.7	37	c.5823	CCDS46528.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.08|15.08	2.725847|2.725847	0.48833|0.48833	.|.	.|.	ENSG00000135905|ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702|ENST00000535663	T;T|.	0.22539|.	1.95;1.96|.	5.48|5.48	1.05|1.05	0.20165|0.20165	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.58366|0.58366	0.2117|0.2117	L|L	0.61387|0.61387	1.9|1.9	0.43317|0.43317	D|D	0.995333|0.995333	P;P;P|.	0.46457|.	0.878;0.863;0.847|.	P;P;B|.	0.53760|.	0.734;0.573;0.39|.	T|T	0.52653|0.52653	-0.8547|-0.8547	10|5	0.49607|.	T|.	0.09|.	.|.	6.803|6.803	0.23762|0.23762	0.6172:0.0:0.3828:0.0|0.6172:0.0:0.3828:0.0	.|.	1941;1935;603|.	Q96BY6;B3FL70;B4DEY4|.	DOC10_HUMAN;.;.|.	E|T	1935;1941;448|91	ENSP00000386694:D1935E;ENSP00000258390:D1941E|.	ENSP00000258390:D1941E|.	D|P	-|-	3|1	2|0	DOCK10|DOCK10	225348056|225348056	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	1.328000|1.328000	0.33758|0.33758	0.357000|0.357000	0.24183|0.24183	0.563000|0.563000	0.77884|0.77884	GAC|CCC	-	NULL		0.493	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	protein_coding	OTTHUMT00000331246.1	G			225348056	-1	no_errors	NM_014689	genbank	human	validated	54_36p	missense	SNP	0.998	T
OBSCN	84033	genome.wustl.edu	37	1	228482623	228482623	+	Nonsense_Mutation	SNP	C	C	G			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr1:228482623C>G	ENST00000422127.1	+	43	11582	c.11538C>G	c.(11536-11538)taC>taG	p.Y3846*	OBSCN_ENST00000366709.4_Nonsense_Mutation_p.Y965*|OBSCN_ENST00000570156.2_Nonsense_Mutation_p.Y4275*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.Y965*|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.Y2693*|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.Y3846*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3846	Ig-like 39.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGACAGATACAGCCTGAGGC	0.627																																																0			1											132.0	134.0	133.0					1																	228482623		2092	4197	6289	226549246	SO:0001587	stop_gained	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.11538C>G	1.37:g.228482623C>G	ENSP00000409493:p.Tyr3846*		226549246	Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMPfam_V-set,HMMSmart_SM00015,HMMPfam_IQ,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Protein kinase-like (PK-like),PatternScan_GLYCOSYL_HYDROL_F5,HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,PatternScan_PROTEIN_KINASE_TYR	p.Y3846*	ENST00000422127.1	37	c.11538	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	62	68.322242	0.99991	.	.	ENSG00000154358	ENST00000284548;ENST00000422127;ENST00000366707;ENST00000366709;ENST00000359599	.	.	.	5.1	3.18	0.36537	.	0.722974	0.13016	N	0.420512	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.8085	0.46531	0.0:0.7879:0.1384:0.0737	.	.	.	.	X	3846;3846;965;965;2693	.	ENSP00000284548:Y3846X	Y	+	3	2	OBSCN	226549246	0.000000	0.05858	0.122000	0.21767	0.181000	0.23173	0.240000	0.18042	1.385000	0.46445	0.467000	0.42956	TAC	-	HMMSmart_SM00406,superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408		0.627	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	protein_coding		C	NM_052843		226549246	+1	no_errors	NM_001098623	genbank	human	reviewed	54_36p	nonsense	SNP	0.299	G
TRIM17	51127	genome.wustl.edu	37	1	228598732	228598732	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr1:228598732C>A	ENST00000366697.2	-	3	1627	c.671G>T	c.(670-672)tGc>tTc	p.C224F	TRIM17_ENST00000295033.3_Missense_Mutation_p.C224F|RP11-245P10.4_ENST00000436779.1_RNA|TRIM17_ENST00000456946.2_Missense_Mutation_p.C224F|TRIM17_ENST00000366698.2_Missense_Mutation_p.C224F			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	224					protein autoubiquitination (GO:0051865)	intracellular (GO:0005622)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CCGGTCCAGGCAGGCCACGCT	0.637																																																0			1											33.0	38.0	36.0					1																	228598732		2203	4300	6503	226665355	SO:0001583	missense	51127			AF156271	CCDS1571.1, CCDS44327.1	1q42	2013-01-09	2011-01-25	2001-11-30	ENSG00000162931	ENSG00000162931		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	13430	protein-coding gene	gene with protein product	"""ring finger protein 16"", ""RING finger protein terf"", ""testis RING finger protein"""	606123	"""tripartite motif-containing 17"""	RNF16		9792805, 10894938	Standard	NM_016102		Approved	terf, RBCC	uc001hsv.3	Q9Y577	OTTHUMG00000039974	ENST00000366697.2:c.671G>T	1.37:g.228598732C>A	ENSP00000355658:p.Cys224Phe		226665355	B4DVJ2|Q5VST8	Missense_Mutation	SNP	superfamily_SSF57850,HMMSmart_RING,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_zf-B_box,HMMSmart_BBOX,HMMSmart_PRY,HMMPfam_SPRY,HMMSmart_SPRY	p.C224F	ENST00000366697.2	37	c.671	CCDS1571.1	1	.	.	.	.	.	.	.	.	.	.	c	0.402	-0.917635	0.02396	.	.	ENSG00000162931	ENST00000366697;ENST00000366698;ENST00000295033;ENST00000456946;ENST00000479800	T;T;T;T;T	0.04603	3.59;3.59;3.59;3.59;3.59	4.48	-3.18	0.05186	.	3.374280	0.01097	N	0.005285	T	0.02571	0.0078	N	0.08118	0	0.09310	N	1	B;B	0.23735	0.09;0.0	B;B	0.12156	0.007;0.0	T	0.41502	-0.9505	10	0.66056	D	0.02	.	1.4283	0.02328	0.2908:0.2554:0.3278:0.126	.	224;224	Q9Y577-2;Q9Y577	.;TRI17_HUMAN	F	224;224;224;224;197	ENSP00000355658:C224F;ENSP00000355659:C224F;ENSP00000295033:C224F;ENSP00000403312:C224F;ENSP00000430468:C197F	ENSP00000295033:C224F	C	-	2	0	TRIM17	226665355	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.149000	0.03182	-0.327000	0.08551	-1.630000	0.00783	TGC	-	NULL		0.637	TRIM17-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRIM17	protein_coding	OTTHUMT00000096439.2	C	NM_016102		226665355	-1	no_errors	NM_001024940	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
KIF1A	547	genome.wustl.edu	37	2	241728666	241728666	+	Missense_Mutation	SNP	C	C	A			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:241728666C>A	ENST00000320389.7	-	3	328	c.170G>T	c.(169-171)tGg>tTg	p.W57L	KIF1A_ENST00000498729.2_Missense_Mutation_p.W57L	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	57	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGTGTGCGACCAGTAGGAGTA	0.622																																																0			2											68.0	79.0	75.0					2																	241728666		2166	4289	6455	241377339	SO:0001583	missense	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.170G>T	2.37:g.241728666C>A	ENSP00000322791:p.Trp57Leu		241377339	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin,PatternScan_KINESIN_MOTOR_DOMAIN1,superfamily_SMAD/FHA domain,HMMSmart_SM00240,HMMPfam_FHA,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233	p.W57L	ENST00000320389.7	37	c.170	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	C	27.8	4.866447	0.91511	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	D;D;D	0.88046	-2.33;-2.33;-2.33	4.52	4.52	0.55395	Kinesin, motor domain (4);	0.000000	0.85682	U	0.000000	D	0.93844	0.8031	M	0.86097	2.795	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.979;0.998;0.999	D	0.94986	0.8130	10	0.87932	D	0	.	16.0154	0.80434	0.0:1.0:0.0:0.0	.	57;57;57	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	L	57	ENSP00000322791:W57L;ENSP00000438388:W57L;ENSP00000384231:W57L	ENSP00000322791:W57L	W	-	2	0	KIF1A	241377339	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.626000	0.83164	2.069000	0.61940	0.462000	0.41574	TGG	-	HMMSmart_SM00129,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Kinesin		0.622	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	protein_coding	OTTHUMT00000324536.3	C	NM_138483		241377339	-1	no_errors	NM_004321	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
KIF26B	55083	genome.wustl.edu	37	1	245530254	245530254	+	Missense_Mutation	SNP	A	A	T			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr1:245530254A>T	ENST00000407071.2	+	3	1024	c.584A>T	c.(583-585)aAg>aTg	p.K195M	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	195					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AACCAGTTGAAGCAGGAGGCC	0.617																																																0			1											44.0	48.0	47.0					1																	245530254		2180	4269	6449	243596877	SO:0001583	missense	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.584A>T	1.37:g.245530254A>T	ENSP00000385545:p.Lys195Met		243596877	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00129,HMMPfam_Kinesin	p.K195M	ENST00000407071.2	37	c.584	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	A	19.17	3.775823	0.70107	.	.	ENSG00000162849	ENST00000407071	D	0.82081	-1.57	5.44	5.44	0.79542	.	.	.	.	.	D	0.89976	0.6871	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.91085	0.4902	9	0.87932	D	0	.	15.8087	0.78538	1.0:0.0:0.0:0.0	.	195	Q2KJY2	KI26B_HUMAN	M	195	ENSP00000385545:K195M	ENSP00000385545:K195M	K	+	2	0	KIF26B	243596877	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.910000	0.92685	2.191000	0.70037	0.528000	0.53228	AAG	-	NULL		0.617	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	protein_coding	OTTHUMT00000381037.1	A	XM_371354		243596877	+1	no_errors	NM_018012	genbank	human	provisional	54_36p	missense	SNP	1.000	T
NRIP1	8204	genome.wustl.edu	37	21	16337334	16337359	+	Frame_Shift_Del	DEL	TCTTGGAGAGTCTTTTTCATACTCAT	TCTTGGAGAGTCTTTTTCATACTCAT	-			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	TCTTGGAGAGTCTTTTTCATACTCAT	TCTTGGAGAGTCTTTTTCATACTCAT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr21:16337334_16337359delTCTTGGAGAGTCTTTTTCATACTCAT	ENST00000400202.1	-	3	3867_3892	c.3155_3180delATGAGTATGAAAAAGACTCTCCAAGA	c.(3154-3180)aatgagtatgaaaaagactctccaagafs	p.NEYEKDSPR1052fs	AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000400199.1_Frame_Shift_Del_p.NEYEKDSPR1052fs|NRIP1_ENST00000318948.4_Frame_Shift_Del_p.NEYEKDSPR1052fs			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	1052	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TTTTGGTCAATCTTGGAGAGTCTTTTTCATACTCATTCTTCTCCGC	0.447																																																0			21																																								15259230	SO:0001589	frameshift_variant	8204			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.3155_3180delATGAGTATGAAAAAGACTCTCCAAGA	21.37:g.16337334_16337359delTCTTGGAGAGTCTTTTTCATACTCAT	ENSP00000383063:p.Asn1052fs		15259205	Q8IWE8	Frame_Shift_Del	DEL	NULL	p.N1052fs	ENST00000400202.1	37	c.3180_3155	CCDS13568.1	21																																																																																			(deletion:cds_exon[15258908,15262384])	NULL		0.447	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NRIP1	protein_coding	OTTHUMT00000157926.1	TCTTGGAGAGTCTTTTTCATACTCAT	NM_003489		15259230	-1	no_errors	NM_003489	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.569:0.559:0.271:0.042:0.996:0.998:0.913:0.998:1.000:1.000:1.000:0.999:0.720:0.586:0.576:0.128:0.157:0.250:0.230:0.256:0.265:0.225:0.915:0.997:0.982:0.983	-
TM9SF1	10548	genome.wustl.edu	37	14	24658752	24658752	+	Frame_Shift_Del	DEL	C	C	-			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr14:24658752delC	ENST00000261789.4	-	6	2048	c.1690delG	c.(1690-1692)gtafs	p.V564fs	RP11-468E2.2_ENST00000561419.1_Frame_Shift_Del_p.Q100fs|TM9SF1_ENST00000524835.1_Frame_Shift_Del_p.V477fs|IPO4_ENST00000354464.6_5'Flank|TM9SF1_ENST00000528669.1_Frame_Shift_Del_p.V547fs|TM9SF1_ENST00000556387.1_Frame_Shift_Del_p.V773fs|TM9SF1_ENST00000530611.1_Frame_Shift_Del_p.V773fs	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	564					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		ACTGTCTGTACTGCCCCAGAC	0.507																																																0			14											84.0	86.0	85.0					14																	24658752		2203	4300	6503	23728592	SO:0001589	frameshift_variant	10548			U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.1690delG	14.37:g.24658752delC	ENSP00000261789:p.Val564fs		23728592	D3DS65|Q86SZ6|Q96FI8	Frame_Shift_Del	DEL	HMMPfam_EMP70	p.V564fs	ENST00000261789.4	37	c.1690	CCDS9617.1	14																																																																																			(deletion:cds_exon[23728461,23728854])	HMMPfam_EMP70		0.507	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	TM9SF1	protein_coding	OTTHUMT00000073136.2	C	NM_006405		23728592	-1	no_errors	NM_006405	genbank	human	validated	54_36p	frame_shift_del	DEL	0.995	-
TM9SF1	10548	genome.wustl.edu	37	14	24658754	24658770	+	Frame_Shift_Del	DEL	GCCCCAGACATGTTGGA	GCCCCAGACATGTTGGA	-			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	GCCCCAGACATGTTGGA	GCCCCAGACATGTTGGA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr14:24658754_24658770delGCCCCAGACATGTTGGA	ENST00000261789.4	-	6	2030_2046	c.1672_1688delTCCAACATGTCTGGGGC	c.(1672-1689)tccaacatgtctggggcafs	p.SNMSGA558fs	RP11-468E2.2_ENST00000561419.1_Frame_Shift_Del_p.PTCLGQ95fs|TM9SF1_ENST00000524835.1_Frame_Shift_Del_p.SNMSGA471fs|IPO4_ENST00000354464.6_5'Flank|TM9SF1_ENST00000528669.1_Frame_Shift_Del_p.SNMSGA541fs|TM9SF1_ENST00000556387.1_Frame_Shift_Del_p.SNMSGA767fs|TM9SF1_ENST00000530611.1_Frame_Shift_Del_p.SNMSGA767fs	NM_006405.5	NP_006396.2	O15321	TM9S1_HUMAN	transmembrane 9 superfamily member 1	558					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		TGTCTGTACTGCCCCAGACATGTTGGAGCGCCGGGCA	0.512																																																0			14																																								23728610	SO:0001589	frameshift_variant	10548			U94831	CCDS9617.1, CCDS41934.1, CCDS73623.1	14q11.2	2005-10-11			ENSG00000100926	ENSG00000100926			11864	protein-coding gene	gene with protein product						9332367	Standard	NM_006405		Approved	MP70, HMP70	uc010tob.1	O15321	OTTHUMG00000029322	ENST00000261789.4:c.1672_1688delTCCAACATGTCTGGGGC	14.37:g.24658754_24658770delGCCCCAGACATGTTGGA	ENSP00000261789:p.Ser558fs		23728594	D3DS65|Q86SZ6|Q96FI8	Frame_Shift_Del	DEL	HMMPfam_EMP70	p.N559fs	ENST00000261789.4	37	c.1688_1672	CCDS9617.1	14																																																																																			(deletion:cds_exon[23728461,23728854])	HMMPfam_EMP70		0.512	TM9SF1-002	KNOWN	basic|CCDS	protein_coding	TM9SF1	protein_coding	OTTHUMT00000073136.2	GCCCCAGACATGTTGGA	NM_006405		23728610	-1	no_errors	NM_006405	genbank	human	validated	54_36p	frame_shift_del	DEL	0.931:0.942:0.961:1.000:1.000:0.991:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:0.996:1.000:1.000	-
ADAMTS1	9510	genome.wustl.edu	37	21	28212293	28212293	+	Frame_Shift_Del	DEL	C	C	-			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr21:28212293delC	ENST00000284984.3	-	6	2207	c.1753delG	c.(1753-1755)gaafs	p.E585fs		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	585	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		TTGTCACATTCCCTCATCGTG	0.522																																																0			21											158.0	128.0	138.0					21																	28212293		2203	4300	6503	27134164	SO:0001589	frameshift_variant	9510			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.1753delG	21.37:g.28212293delC	ENSP00000284984:p.Glu585fs		27134164	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Frame_Shift_Del	DEL	PatternScan_DISINTEGRIN_1,HMMPfam_Pep_M12B_propep,superfamily_SSF55486,HMMPfam_Reprolysin,PatternScan_ZINC_PROTEASE,HMMSmart_ACR,superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1	p.E585fs	ENST00000284984.3	37	c.1753	CCDS33524.1	21																																																																																			(deletion:cds_exon[27134065,27134251])	superfamily_TSP1,HMMSmart_TSP1,HMMPfam_TSP_1		0.522	ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS1	protein_coding	OTTHUMT00000171650.2	C			27134164	-1	no_errors	NM_006988	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000	-
SPTB	6710	genome.wustl.edu	37	14	65260335	65260335	+	Frame_Shift_Del	DEL	A	A	-			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr14:65260335delA	ENST00000389721.5	-	13	2078	c.2046delT	c.(2044-2046)tttfs	p.F682fs	SPTB_ENST00000556626.1_Frame_Shift_Del_p.F682fs|SPTB_ENST00000389722.3_Frame_Shift_Del_p.F682fs|SPTB_ENST00000389720.3_Frame_Shift_Del_p.F682fs|SPTB_ENST00000542895.1_Frame_Shift_Del_p.F682fs	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	682					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCTCATCCTCAAAGGCCTTGT	0.562																																																0			14											99.0	72.0	81.0					14																	65260335		2203	4300	6503	64330088	SO:0001589	frameshift_variant	6710				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.2046delT	14.37:g.65260335delA	ENSP00000374371:p.Phe682fs		64330088	Q15510|Q15519	Frame_Shift_Del	DEL	superfamily_Calponin-homology,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_CH,PatternScan_ACTININ_2,superfamily_Spectrin,HMMPfam_Spectrin,HMMSmart_SPEC,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH	p.F682fs	ENST00000389721.5	37	c.2046	CCDS32100.1	14																																																																																			(deletion:cds_exon[64329468,64330338])	HMMPfam_Spectrin,superfamily_Spectrin,HMMSmart_SPEC		0.562	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	protein_coding	OTTHUMT00000414080.1	A			64330088	-1	no_errors	NM_001024858	genbank	human	validated	54_36p	frame_shift_del	DEL	1.000	-
WWP2	11060	genome.wustl.edu	37	16	69967992	69967992	+	Frame_Shift_Del	DEL	A	A	-			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr16:69967992delA	ENST00000359154.2	+	17	1903	c.1802delA	c.(1801-1803)cacfs	p.H601fs	WWP2_ENST00000448661.1_Frame_Shift_Del_p.H601fs|WWP2_ENST00000542271.1_Frame_Shift_Del_p.H485fs|WWP2_ENST00000356003.2_Frame_Shift_Del_p.H601fs|WWP2_ENST00000568684.1_Frame_Shift_Del_p.H162fs|MIR140_ENST00000385282.1_RNA|WWP2_ENST00000544162.1_3'UTR	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	601	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AACCCGGACCACCTCACCTAC	0.527																																																0			16											123.0	121.0	121.0					16																	69967992		2198	4300	6498	68525493	SO:0001589	frameshift_variant	11060			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.1802delA	16.37:g.69967992delA	ENSP00000352069:p.His601fs		68525493	A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Frame_Shift_Del	DEL	superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,superfamily_WW_Rsp5_WWP,HMMSmart_WW,HMMPfam_WW,PatternScan_WW_DOMAIN_1,superfamily_HECT,HMMSmart_HECTc,HMMPfam_HECT	p.H601fs	ENST00000359154.2	37	c.1802	CCDS10885.1	16																																																																																			(deletion:cds_exon[68525374,68525533])	superfamily_HECT,HMMSmart_HECTc,HMMPfam_HECT		0.527	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP2	protein_coding	OTTHUMT00000268954.1	A	NM_007014		68525493	+1	no_errors	NM_007014	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000	-
SLC9B1P2	389000	genome.wustl.edu	37	2	92118448	92118467	+	IGR	DEL	TGAAACAAACCACCTTCAAA	TGAAACAAACCACCTTCAAA	-			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	TGAAACAAACCACCTTCAAA	TGAAACAAACCACCTTCAAA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr2:92118448_92118467delTGAAACAAACCACCTTCAAA								SLC9B1P2 (16210 upstream) : None (None downstream)														p.K54K(1)									ATAGCCAATCTGAAACAAACCACCTTCAAATGCCTCAAAG	0.364																																																1	Substitution - coding silent(1)	lung(1)	2																																								91482194	SO:0001628	intergenic_variant	389000																															2.37:g.92118448_92118467delTGAAACAAACCACCTTCAAA			91482175		Frame_Shift_Del	DEL	HMMPfam_Na_H_Exchanger	p.H177fs		37	c.550_531		2																																																																																			(deletion:cds_exon[91482078,91482205])	HMMPfam_Na_H_Exchanger	0	0.364					LOC389000			TGAAACAAACCACCTTCAAA			91482194	-1	pseudogene	XM_371534	genbank	human	model	54_36p	frame_shift_del	DEL	0.988:0.989:0.999:1.000:1.000:1.000:1.000:0.999:1.000:0.997:0.989:0.990:0.990:0.991:0.998:0.998:0.995:0.995:0.994:0.988	-
PDE6C	5146	genome.wustl.edu	37	10	95372521	95372526	+	In_Frame_Del	DEL	GGAGGA	GGAGGA	-			TCGA-29-1777-01A-01W-0639-09	TCGA-29-1777-10A-01W-0639-09	GGAGGA	GGAGGA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	36e9c812-7a90-45cd-a44a-1e88ce96f2ea	1f5d62fb-db02-4d9a-839c-07d882823246	g.chr10:95372521_95372526delGGAGGA	ENST00000371447.3	+	1	177_182	c.39_44delGGAGGA	c.(37-45)ctggaggag>ctg	p.EE14del		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	14					phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	AGAAATACCTGGAGGAGAACCCTCAG	0.529																																																0			10																																								95362516	SO:0001651	inframe_deletion	5146			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.39_44delGGAGGA	10.37:g.95372521_95372526delGGAGGA	ENSP00000360502:p.Glu14_Glu15del		95362511	A6NCR6|Q5VY29	In_Frame_Del	DEL	superfamily_SSF55781,HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I	p.EE14in_frame_del	ENST00000371447.3	37	c.39_44	CCDS7429.1	10																																																																																			(deletion:cds_exon[95362473,95362952])	NULL		0.529	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6C	protein_coding	OTTHUMT00000049437.1	GGAGGA	NM_006204		95362516	+1	no_errors	NM_006204	genbank	human	validated	54_36p	in_frame_del	DEL	0.998:0.996:1.000:1.000:0.997:0.997	-
