#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_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count
KCNK18	338567	hgsc.bcm.edu;broad.mit.edu	37	10	118957048	118957048	+	Silent	SNP	C	C	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr10:118957048C>T	ENST00000334549.1	+	1	49	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	17					cellular response to pH (GO:0071467)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|outward rectifier potassium channel activity (GO:0015271)|potassium channel activity (GO:0005267)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCCAGAGGCCCTGGGAAAGCT	0.632																																																0													72.0	66.0	68.0					10																	118957048		2203	4300	6503	SO:0001819	synonymous_variant	338567			AB087138	CCDS7598.1	10q26.11	2012-03-07			ENSG00000186795	ENSG00000186795		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	19439	protein-coding gene	gene with protein product	"""TWIK related spinal cord K+ channel"""	613655				16382106	Standard	NM_181840		Approved	K2p18.1, TRESK-2, TRESK2, TRESK, TRIK	uc010qsr.2	Q7Z418	OTTHUMG00000019120	ENST00000334549.1:c.49C>T	10.37:g.118957048C>T			Q5SQQ8	Silent	SNP	ENST00000334549.1	37	CCDS7598.1																																																																																				0.632	KCNK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050562.2	NM_181840		5	76	5	76
PRPF40B	25766	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	50036431	50036431	+	Silent	SNP	C	C	G			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr12:50036431C>G	ENST00000380281.1	+	20	2089	c.2025C>G	c.(2023-2025)ctC>ctG	p.L675L	PRPF40B_ENST00000261897.1_Silent_p.L662L|PRPF40B_ENST00000548825.2_Silent_p.L697L|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	675	FF 6.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGATCCGGCTCTTCCGGGAGT	0.557																																																0													89.0	78.0	81.0					12																	50036431		2203	4300	6503	SO:0001819	synonymous_variant	25766			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2025C>G	12.37:g.50036431C>G			O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Silent	SNP	ENST00000380281.1	37																																																																																					0.557	PRPF40B-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000404838.1	NM_012272		29	32	29	32
EIF2B1	1967	hgsc.bcm.edu;broad.mit.edu	37	12	124111689	124111689	+	Silent	SNP	G	G	A	rs146748240	byFrequency	TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr12:124111689G>A	ENST00000424014.2	-	5	592	c.384C>T	c.(382-384)caC>caT	p.H128H	EIF2B1_ENST00000537073.1_Silent_p.H128H|EIF2B1_ENST00000539951.1_Silent_p.H115H	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	128					cellular protein metabolic process (GO:0044267)|cellular response to stimulus (GO:0051716)|gene expression (GO:0010467)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|positive regulation of GTPase activity (GO:0043547)|regulation of translational initiation (GO:0006446)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|membrane (GO:0016020)|plasma membrane (GO:0005886)	enzyme regulator activity (GO:0030234)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|translation initiation factor activity (GO:0003743)			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TGGAGTAGGCGTGAGTCAATA	0.562																																																0								G		0,4406		0,0,2203	112.0	96.0	101.0		384	-4.0	0.9	12	dbSNP_134	101	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	EIF2B1	NM_001414.3		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		128/306	124111689	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	1967			X95648	CCDS31924.1	12q24.3	1998-10-16	2002-08-29		ENSG00000111361	ENSG00000111361			3257	protein-coding gene	gene with protein product		606686	"""eukaryotic translation initiation factor 2B, subunit 1 (alpha, 26kD)"""	EIF2B			Standard	NM_001414		Approved	EIF-2Balpha, EIF-2B, EIF2BA	uc001ufm.3	Q14232	OTTHUMG00000168696	ENST00000424014.2:c.384C>T	12.37:g.124111689G>A			A6NLY9|B4DGX0|Q3SXP4	Silent	SNP	ENST00000424014.2	37	CCDS31924.1																																																																																				0.562	EIF2B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400628.1	NM_001414		9	138	9	138
TSHR	7253	hgsc.bcm.edu;broad.mit.edu	37	14	81609744	81609744	+	Missense_Mutation	SNP	G	G	A	rs201889708	byFrequency	TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr14:81609744G>A	ENST00000541158.2	+	11	1664	c.1342G>A	c.(1342-1344)Gtc>Atc	p.V448I	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.V448I			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	448					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adult locomotory behavior (GO:0008344)|B cell differentiation (GO:0030183)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of locomotion (GO:0040012)|thyroid-stimulating hormone signaling pathway (GO:0038194)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	thyroid-stimulating hormone receptor activity (GO:0004996)			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CAAACTGAACGTCCCCCGCTT	0.517			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						G|||	2	0.000399361	0.0008	0.0	5008	,	,		21223	0.0		0.0	False		,,,				2504	0.001					yes	Dom	yes		14	14q31	7253	thyroid stimulating hormone receptor	yes	E	0													701.0	559.0	607.0					14																	81609744		2203	4300	6503	SO:0001583	missense	7253			AY429111	CCDS9872.1, CCDS32131.1, CCDS55935.1	14q24-q31	2014-09-17			ENSG00000165409	ENSG00000165409		"""GPCR / Class A : Gonadotropin and TSH receptors"""	12373	protein-coding gene	gene with protein product		603372				2558651, 2610690	Standard	NM_001018036		Approved	LGR3	uc001xvd.1	P16473		ENST00000541158.2:c.1342G>A	14.37:g.81609744G>A	ENSP00000441235:p.Val448Ile		A0PJU7|F5GYU5|G3V2A9|Q16503|Q8TB90|Q96GT6|Q9P1V4|Q9ULA3|Q9UPH3	Missense_Mutation	SNP	ENST00000541158.2	37	CCDS9872.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	24.8	4.573917	0.86542	.	.	ENSG00000165409	ENST00000541158;ENST00000412429;ENST00000298171	D;D	0.89415	-2.51;-2.51	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.94188	0.8135	M	0.69463	2.115	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94181	0.7432	10	0.87932	D	0	.	19.9226	0.97093	0.0:0.0:1.0:0.0	.	448	F5GYU5	.	I	448;95;448	ENSP00000441235:V448I;ENSP00000298171:V448I	ENSP00000298171:V448I	V	+	1	0	TSHR	80679497	1.000000	0.71417	0.949000	0.38748	0.793000	0.44817	9.869000	0.99810	2.720000	0.93068	0.561000	0.74099	GTC		0.517	TSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413364.1	NM_000369		14	202	14	202
KLHL25	64410	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	86312652	86312652	+	Silent	SNP	G	G	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr15:86312652G>A	ENST00000337975.5	-	2	664	c.390C>T	c.(388-390)caC>caT	p.H130H	KLHL25_ENST00000536947.1_Silent_p.H130H|KLHL25_ENST00000559131.1_Intron|MIR1276_ENST00000408707.1_RNA	NM_022480.3	NP_071925.2	Q9H0H3	KLH25_HUMAN	kelch-like family member 25	130					protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of translational initiation (GO:0006446)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CCCGCACATCGTGGAACTGCA	0.622																																																0													94.0	87.0	90.0					15																	86312652		2202	4299	6501	SO:0001819	synonymous_variant	64410				CCDS10339.1	15q25.3	2013-02-22	2013-02-22		ENSG00000183655	ENSG00000183655		"""Kelch-like"", ""BTB/POZ domain containing"""	25732	protein-coding gene	gene with protein product	"""ectodermal-neural cortex 2"""		"""kelch-like 25 (Drosophila)"""				Standard	XM_006720635		Approved	FLJ12587, ENC2, ENC-2	uc002bly.3	Q9H0H3	OTTHUMG00000148672	ENST00000337975.5:c.390C>T	15.37:g.86312652G>A			B2RDH2|B3KRT7	Silent	SNP	ENST00000337975.5	37	CCDS10339.1																																																																																				0.622	KLHL25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309023.1	NM_022480		10	60	10	60
MYH8	4626	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	10299697	10299697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr17:10299697G>A	ENST00000403437.2	-	33	4697	c.4603C>T	c.(4603-4605)Caa>Taa	p.Q1535*	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1535					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGTTCTACTTGCTTCTTTATT	0.383									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																																							0													167.0	147.0	154.0					17																	10299697		2203	4300	6503	SO:0001587	stop_gained	4626	Familial Cancer Database	Carney Complex Variant		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4603C>T	17.37:g.10299697G>A	ENSP00000384330:p.Gln1535*		Q14910	Nonsense_Mutation	SNP	ENST00000403437.2	37	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	G	43	10.152561	0.99348	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	.	.	.	5.26	5.26	0.73747	.	0.000000	0.40144	U	0.001177	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	19.0697	0.93127	0.0:0.0:1.0:0.0	.	.	.	.	X	1535	.	ENSP00000252173:Q1535X	Q	-	1	0	MYH8	10240422	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	3.674000	0.54598	2.744000	0.94065	0.650000	0.86243	CAA		0.383	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		6	28	6	28
KRT15	3866	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	rs138271368	byFrequency	TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr17:39673185C>T	ENST00000254043.3	-	3	4198	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_ENST00000393976.2_Missense_Mutation_p.V205I|KRT15_ENST00000393974.3_Missense_Mutation_p.V40I|KRT15_ENST00000393981.3_Missense_Mutation_p.V40I	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	205	Coil 1B.|Rod.				epidermis development (GO:0008544)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)	p.V205I(3)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19121	0.001		0.0	False		,,,				2504	0.0															3	Substitution - Missense(3)	prostate(1)|kidney(1)|central_nervous_system(1)						C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	75.0	75.0	75.0		613	2.7	1.0	17	dbSNP_134	75	0,8600		0,0,4300	yes	missense	KRT15	NM_002275.3	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	205/457	39673185	1,13005	2203	4300	6503	SO:0001583	missense	3866				CCDS11398.1	17q21.2	2013-06-20			ENSG00000171346	ENSG00000171346		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6421	protein-coding gene	gene with protein product	"""keratin-15, basic"", ""keratin-15, beta"", ""type I cytoskeletal 15"", ""cytokeratin 15"""	148030				16831889	Standard	NM_002275		Approved	K15, CK15, K1CO	uc002hwy.3	P19012	OTTHUMG00000133435	ENST00000254043.3:c.613G>A	17.37:g.39673185C>T	ENSP00000254043:p.Val205Ile		B3KQY1|B3KRA2|E0CX14|Q53XV8|Q9BUG4	Missense_Mutation	SNP	ENST00000254043.3	37	CCDS11398.1	6	0.0027472527472527475	1	0.0020325203252032522	1	0.0027624309392265192	3	0.005244755244755245	1	0.0013192612137203166	C	18.69	3.678865	0.68042	2.27E-4	0.0	ENSG00000171346	ENST00000254043;ENST00000393974;ENST00000393976;ENST00000393981;ENST00000458290	D;D;D;D;D	0.89617	-2.54;-2.54;-2.54;-2.54;-2.54	4.86	2.74	0.32292	Filament (1);	0.000000	0.41823	D	0.000804	D	0.93288	0.7861	M	0.93150	3.385	0.47037	D	0.99929	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.93234	0.6620	10	0.87932	D	0	.	10.0097	0.41979	0.1362:0.7907:0.0:0.0731	.	40;205;205	A8MT21;B3KVF5;P19012	.;.;K1C15_HUMAN	I	205;40;205;40;40	ENSP00000254043:V205I;ENSP00000377544:V40I;ENSP00000377546:V205I;ENSP00000377550:V40I;ENSP00000409282:V40I	ENSP00000254043:V205I	V	-	1	0	KRT15	36926711	1.000000	0.71417	0.999000	0.59377	0.185000	0.23345	4.807000	0.62576	1.254000	0.44035	0.650000	0.86243	GTT		0.612	KRT15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257301.1	NM_002275		14	89	14	89
DNM2	1785	hgsc.bcm.edu;ucsc.edu	37	19	10908139	10908139	+	Intron	SNP	G	G	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:10908139G>T	ENST00000355667.6	+	11	1415				DNM2_ENST00000359692.6_Intron|DNM2_ENST00000585892.1_Intron|DNM2_ENST00000389253.4_Missense_Mutation_p.C427F|DNM2_ENST00000408974.4_Missense_Mutation_p.C427F|DNM2_ENST00000314646.5_Missense_Mutation_p.C427F	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AGTTTGAAGTGTGTTGATCTC	0.517			"""F, N, Splice, Mis, O"""		ETP ALL																																		Rec	yes		19	19p13.2	1785	dynamin 2		L	0													119.0	105.0	110.0					19																	10908139		2203	4300	6503	SO:0001627	intron_variant	1785				CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1336-1023G>T	19.37:g.10908139G>T			A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.495179	0.85069	.	.	ENSG00000079805	ENST00000389252;ENST00000408974;ENST00000389253;ENST00000314646	T;T;T	0.75367	-0.93;-0.93;-0.93	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.91219	0.7233	H	0.96889	3.9	0.80722	D	1	P;P;D	0.89917	0.729;0.491;1.0	B;B;D	0.91635	0.429;0.429;0.999	D	0.93943	0.7225	10	0.87932	D	0	-2.179	18.0235	0.89262	0.0:0.0:1.0:0.0	.	160;427;427	B4DJ53;A8K1B6;E9PEQ4	.;.;.	F	416;427;427;427	ENSP00000386192:C427F;ENSP00000373905:C427F;ENSP00000313164:C427F	ENSP00000313164:C427F	C	+	2	0	DNM2	10769139	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.666000	0.98612	2.557000	0.86248	0.655000	0.94253	TGT		0.517	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		24	78	24	78
AXL	558	hgsc.bcm.edu;broad.mit.edu	37	19	41763470	41763470	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:41763470G>A	ENST00000301178.4	+	19	2459	c.2269G>A	c.(2269-2271)Gag>Aag	p.E757K	AXL_ENST00000359092.3_Missense_Mutation_p.E748K|AXL_ENST00000593513.1_Missense_Mutation_p.E489K	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	757	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGAGAACAGCGAGATTTATGA	0.557																																																0													143.0	129.0	134.0					19																	41763470		2203	4300	6503	SO:0001583	missense	558			M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.2269G>A	19.37:g.41763470G>A	ENSP00000301178:p.Glu757Lys		Q8N5L2|Q9UD27	Missense_Mutation	SNP	ENST00000301178.4	37	CCDS12575.1	.	.	.	.	.	.	.	.	.	.	G	36	5.749904	0.96890	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	D;D	0.83163	-1.69;-1.69	4.89	4.89	0.63831	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87896	0.6293	L	0.52206	1.635	0.49213	D	0.999761	D;D	0.89917	1.0;1.0	P;P	0.62740	0.849;0.906	D	0.88917	0.3363	10	0.87932	D	0	-27.8781	17.3451	0.87308	0.0:0.0:1.0:0.0	.	748;757	P30530-2;P30530	.;UFO_HUMAN	K	757;748	ENSP00000301178:E757K;ENSP00000351995:E748K	ENSP00000301178:E757K	E	+	1	0	AXL	46455310	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	9.478000	0.97927	2.706000	0.92434	0.650000	0.86243	GAG		0.557	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463323.2			6	116	6	116
CCDC185	164127	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	223567391	223567391	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr1:223567391C>T	ENST00000366875.3	+	1	677	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		192										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TCCCTCGGAGCGGTCTTCTGT	0.597																																																0													67.0	70.0	69.0					1																	223567391		2203	4300	6503	SO:0001583	missense	0																														ENST00000366875.3:c.574C>T	1.37:g.223567391C>T	ENSP00000355840:p.Arg192Trp		Q8N746|Q8NA93	Missense_Mutation	SNP	ENST00000366875.3	37	CCDS1537.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.813263	0.50527	.	.	ENSG00000178395	ENST00000366875	T	0.20598	2.06	4.71	2.42	0.29668	.	.	.	.	.	T	0.19005	0.0456	N	0.22421	0.69	0.09310	N	1	D	0.67145	0.996	P	0.52957	0.714	T	0.10177	-1.0641	9	0.87932	D	0	.	3.4688	0.07559	0.5791:0.2237:0.1972:0.0	.	192	Q8N715	CA065_HUMAN	W	192	ENSP00000355840:R192W	ENSP00000355840:R192W	R	+	1	2	C1orf65	221634014	0.996000	0.38824	0.280000	0.24747	0.082000	0.17680	1.737000	0.38197	0.647000	0.30713	-0.271000	0.10264	CGG		0.597	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092718.1			64	82	64	82
RIPK4	54101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	21	43161859	43161859	+	Silent	SNP	G	G	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr21:43161859G>A	ENST00000352483.2	-	9	1702	c.1638C>T	c.(1636-1638)aaC>aaT	p.N546N	RIPK4_ENST00000332512.3_Silent_p.N498N|AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Silent_p.N435N|RIPK4_ENST00000542057.1_Silent_p.N435N			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	546					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CATCCTTGGCGTTGACACTGA	0.632																																																0													115.0	95.0	102.0					21																	43161859		2203	4300	6503	SO:0001819	synonymous_variant	54101			AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.1638C>T	21.37:g.43161859G>A			Q96KH0	Silent	SNP	ENST00000352483.2	37																																																																																					0.632	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		12	136	12	136
TOP3B	8940	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	22322990	22322990	+	Splice_Site	SNP	C	C	A			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr22:22322990C>A	ENST00000398793.2	-	7	1173		c.e7+1		TOP3B_ENST00000413067.2_Splice_Site|TOP3B_ENST00000357179.5_Splice_Site	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta						chromosome segregation (GO:0007059)|DNA topological change (GO:0006265)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA topoisomerase activity (GO:0003916)|DNA topoisomerase type I activity (GO:0003917)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AGGCAAGGAACCTTGGCCTGC	0.552																																																0													113.0	111.0	112.0					22																	22322990		2203	4300	6503	SO:0001630	splice_region_variant	8940			AF017146	CCDS13797.1	22q11.22	2011-05-24			ENSG00000100038	ENSG00000100038			11993	protein-coding gene	gene with protein product		603582				9786842, 9074928	Standard	XM_005261811		Approved		uc002zvs.3	O95985	OTTHUMG00000167438	ENST00000398793.2:c.738+1G>T	22.37:g.22322990C>A			A0M8Q3|Q9BUP5	Splice_Site	SNP	ENST00000398793.2	37	CCDS13797.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245986	0.80024	.	.	ENSG00000100038	ENST00000357179;ENST00000457270;ENST00000398793	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5693	0.91129	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TOP3B	20652990	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.603000	0.82811	2.613000	0.88420	0.555000	0.69702	.		0.552	TOP3B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320251.1	NM_003935	Intron	22	76	22	76
RASD2	23551	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	22	35947956	35947956	+	Silent	SNP	C	C	T	rs144245051		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr22:35947956C>T	ENST00000216127.4	+	3	1320	c.678C>T	c.(676-678)gaC>gaT	p.D226D		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	226	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior (GO:0007626)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein sumoylation (GO:0033235)|regulation of cAMP-mediated signaling (GO:0043949)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission, dopaminergic (GO:0001963)	plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.D226D(1)		endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						AGGAGATGGACGCCTATGGCA	0.642																																																1	Substitution - coding silent(1)	prostate(1)						C		1,4405	2.1+/-5.4	0,1,2202	89.0	74.0	79.0		678	-0.2	0.8	22	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous	RASD2	NM_014310.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		226/267	35947956	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23551			AF279143	CCDS13916.1	22q13.1	2014-05-09			ENSG00000100302	ENSG00000100302			18229	protein-coding gene	gene with protein product	"""tumor endothelial marker 2"", ""Ras homolog enriched in striatum"""	612842				10947988, 10467249, 14724584	Standard	NM_014310		Approved	TEM2, Rhes, MGC:4834	uc003anx.3	Q96D21	OTTHUMG00000150607	ENST00000216127.4:c.678C>T	22.37:g.35947956C>T			O95520|Q5THY8	Silent	SNP	ENST00000216127.4	37	CCDS13916.1																																																																																				0.642	RASD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319063.1	NM_014310		24	52	24	52
IDH1	3417	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)		Dom	yes		2	2q33.3	3417	"""isocitrate dehydrogenase 1 (NADP+), soluble"""		O	2835	Substitution - Missense(2834)|Complex - compound substitution(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)											79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His		Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			43	79	43	79
OTOP1	133060	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	4199681	4199681	+	Missense_Mutation	SNP	G	G	A	rs537569170		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr4:4199681G>A	ENST00000296358.4	-	5	904	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	294					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.R294C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCAACTTTGCGCCCGATGTTC	0.567																																																1	Substitution - Missense(1)	liver(1)											75.0	67.0	70.0					4																	4199681		2203	4300	6503	SO:0001583	missense	133060			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.880C>T	4.37:g.4199681G>A	ENSP00000296358:p.Arg294Cys		A1L476	Missense_Mutation	SNP	ENST00000296358.4	37	CCDS3372.1	.	.	.	.	.	.	.	.	.	.	G	15.77	2.930309	0.52866	.	.	ENSG00000163982	ENST00000296358	T	0.26518	1.73	4.56	4.56	0.56223	.	0.106321	0.64402	D	0.000005	T	0.55625	0.1932	M	0.83384	2.64	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.64537	-0.6384	10	0.87932	D	0	.	17.7176	0.88342	0.0:0.0:1.0:0.0	.	294	Q7RTM1	OTOP1_HUMAN	C	294	ENSP00000296358:R294C	ENSP00000296358:R294C	R	-	1	0	OTOP1	4250582	1.000000	0.71417	0.947000	0.38551	0.303000	0.27691	4.941000	0.63540	2.270000	0.75569	0.404000	0.27445	CGC		0.567	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206661.2	NM_177998		38	91	38	91
IL17F	112744	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	52103580	52103580	+	Missense_Mutation	SNP	C	C	T	rs569473195		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr6:52103580C>T	ENST00000336123.4	-	2	309	c.202G>A	c.(202-204)Gtt>Att	p.V68I		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	68					cartilage development (GO:0051216)|cytokine biosynthetic process (GO:0042089)|inflammatory response (GO:0006954)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteoglycan metabolic process (GO:0006029)|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045423)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of interleukin-8 biosynthetic process (GO:0045414)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine binding (GO:0019955)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					GACATGGAAACGCGCTGGTTT	0.448													C|||	1	0.000199681	0.0	0.0	5008	,	,		19469	0.0		0.0	False		,,,				2504	0.001															0													84.0	84.0	84.0					6																	52103580		2203	4300	6503	SO:0001583	missense	112744			AF384857	CCDS4938.1	6p12	2014-09-17			ENSG00000112116	ENSG00000112116		"""Interleukins and interleukin receptors"""	16404	protein-coding gene	gene with protein product		606496				11591732, 11591768	Standard	NM_052872		Approved	IL-17F, ML-1, ML1	uc003pam.1	Q96PD4	OTTHUMG00000014845	ENST00000336123.4:c.202G>A	6.37:g.52103580C>T	ENSP00000337432:p.Val68Ile		Q6NSI0|Q7Z6P4|Q96PI8|Q9NUE6	Missense_Mutation	SNP	ENST00000336123.4	37	CCDS4938.1	.	.	.	.	.	.	.	.	.	.	C	9.773	1.173284	0.21704	.	.	ENSG00000112116	ENST00000336123	T	0.55760	0.5	5.76	-1.6	0.08426	.	1.435930	0.04059	N	0.306083	T	0.08935	0.0221	N	0.04508	-0.205	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.08911	-1.0699	10	0.13470	T	0.59	-0.858	6.0271	0.19660	0.1256:0.5101:0.0:0.3643	.	68	Q96PD4	IL17F_HUMAN	I	68	ENSP00000337432:V68I	ENSP00000337432:V68I	V	-	1	0	IL17F	52211539	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.096000	0.01349	-0.230000	0.09840	0.650000	0.86243	GTT		0.448	IL17F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040901.3	NM_052872		35	52	35	52
AP1S1	1174	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	7	100799992	100799992	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr7:100799992G>C	ENST00000337619.5	+	2	239	c.121G>C	c.(121-123)Gct>Cct	p.A41P	MIR4653_ENST00000585107.1_RNA	NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	41					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor-mediated endocytosis (GO:0006898)|regulation of defense response to virus by virus (GO:0050690)|response to virus (GO:0009615)|viral process (GO:0016032)	AP-1 adaptor complex (GO:0030121)|coated pit (GO:0005905)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)	protein transporter activity (GO:0008565)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GGTTGTCCTGGCTCGAAAGCC	0.537																																																0													45.0	50.0	48.0					7																	100799992		2045	4182	6227	SO:0001583	missense	1174			AB015319	CCDS47669.1	7q22.1	2014-02-04			ENSG00000106367	ENSG00000106367			559	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, small 1 (19kD)"", ""clathrin coat assembly protein AP19"", ""sigma1A subunit of AP-1 clathrin adaptor complex"", ""AP-1 complex subunit sigma-1A"", ""sigma1A-adaptin"", ""golgi adaptor HA1/AP1 adaptin sigma-1A subunit"", ""clathrin assembly protein complex 1 sigma-1A small chain"", ""HA1 19 kDa subunit"""	603531	"""erythrokeratodermia variabilis 3 (Kamouraska type)"""	CLAPS1, EKV3		9653655, 9733768, 19057675	Standard	NM_001283		Approved	AP19, SIGMA1A, WUGSC:H_DJ0747G18.2	uc003uxv.4	P61966	OTTHUMG00000157103	ENST00000337619.5:c.121G>C	7.37:g.100799992G>C	ENSP00000336666:p.Ala41Pro		B2R5D8|P82267|Q00382|Q53YA7|Q9BTN4|Q9UDW9	Missense_Mutation	SNP	ENST00000337619.5	37	CCDS47669.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.21|18.21	3.573490|3.573490	0.65765|0.65765	.|.	.|.	ENSG00000106367|ENSG00000106367	ENST00000337619|ENST00000429457	.|.	.|.	.|.	5.84|5.84	4.95|4.95	0.65309|0.65309	Longin-like (1);AP complex, mu/sigma subunit (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70202|0.70202	0.3197|0.3197	M|M	0.64260|0.64260	1.97|1.97	0.80722|0.80722	D|D	1|1	B|.	0.15930|.	0.015|.	B|.	0.19666|.	0.026|.	T|T	0.69510|0.69510	-0.5126|-0.5126	9|5	0.33141|.	T|.	0.24|.	-3.6843|-3.6843	14.1441|14.1441	0.65339|0.65339	0.0:0.0:0.8489:0.1511|0.0:0.0:0.8489:0.1511	.|.	41|.	P61966|.	AP1S1_HUMAN|.	P|C	41|82	.|.	ENSP00000336666:A41P|.	A|W	+|+	1|3	0|0	AP1S1|AP1S1	100586712|100586712	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	7.379000|7.379000	0.79691|0.79691	1.453000|1.453000	0.47775|0.47775	0.561000|0.561000	0.74099|0.74099	GCT|TGG		0.537	AP1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347439.1	NM_001283		5	19	5	19
TIGIT	201633	broad.mit.edu;ucsc.edu	37	3	114026861	114026861	+	Silent	SNP	A	A	G			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr3:114026861A>G	ENST00000486257.1	+	5	875	c.618A>G	c.(616-618)gcA>gcG	p.A206A	TIGIT_ENST00000383671.3_Silent_p.A206A|TIGIT_ENST00000481065.1_Silent_p.A273A|TIGIT_ENST00000496848.1_3'UTR			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	206					negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|positive regulation of interleukin-10 production (GO:0032733)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						CAGAAGCTGCACCTGCTGGGC	0.572																																																0													98.0	95.0	96.0					3																	114026861		2203	4300	6503	SO:0001819	synonymous_variant	201633			AK097192	CCDS2980.1	3q13.31	2013-01-11	2008-10-13	2008-10-13	ENSG00000181847	ENSG00000181847		"""Immunoglobulin superfamily / V-set domain containing"""	26838	protein-coding gene	gene with protein product		612859	"""V-set and immunoglobulin domain containing 9"", ""V-set and transmembrane domain containing 3"""	VSIG9, VSTM3		19011627	Standard	NM_173799		Approved	FLJ39873, DKFZp667A205	uc003ebg.2	Q495A1	OTTHUMG00000159331	ENST00000486257.1:c.618A>G	3.37:g.114026861A>G			Q495A3|Q5JPD8|Q6MZS2|Q8N877	Silent	SNP	ENST00000486257.1	37	CCDS2980.1																																																																																				0.572	TIGIT-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354690.1	NM_173799		45	91	45	91
FUBP1	8880	broad.mit.edu;hgsc.bcm.edu	37	1	78422268	78422269	+	Frame_Shift_Ins	INS	-	-	T			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr1:78422268_78422269insT	ENST00000370768.2	-	17	1774_1775	c.1693_1694insA	c.(1693-1695)actfs	p.T565fs	FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.T586fs|FUBP1_ENST00000370767.1_Frame_Shift_Ins_p.T565fs	NM_003902.3	NP_003893.2	Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	565					positive regulation of gene expression (GO:0010628)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTGTCCATTAGTTTGAGTTGTA	0.406			"""F, N"""		oligodendroglioma																																		Rec	yes		1	1p13.1	8880	far upstream element (FUSE) binding protein 1		O	0																																										SO:0001589	frameshift_variant	8880			U05040	CCDS683.1	1p31.1	2008-02-05			ENSG00000162613	ENSG00000162613			4004	protein-coding gene	gene with protein product		603444		FUBP		8125259	Standard	XM_005271309		Approved	FBP	uc001dii.3	Q96AE4	OTTHUMG00000040799	ENST00000370768.2:c.1694dupA	1.37:g.78422271_78422271dupT	ENSP00000359804:p.Thr565fs		Q12828	Frame_Shift_Ins	INS	ENST00000370768.2	37	CCDS683.1																																																																																				0.406	FUBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098030.3	NM_003902		54	41	54	41
LMNA	4000	broad.mit.edu;ucsc.edu	37	1	156104684	156104684	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr1:156104684A>G	ENST00000368300.4	+	4	940	c.728A>G	c.(727-729)gAt>gGt	p.D243G	LMNA_ENST00000347559.2_Missense_Mutation_p.D243G|LMNA_ENST00000361308.4_Missense_Mutation_p.D243G|LMNA_ENST00000368299.3_Missense_Mutation_p.D243G|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000473598.2_Missense_Mutation_p.D144G|LMNA_ENST00000448611.2_Missense_Mutation_p.D131G|LMNA_ENST00000392353.3_Missense_Mutation_p.D162G|LMNA_ENST00000368297.1_Missense_Mutation_p.D162G|LMNA_ENST00000368301.2_Missense_Mutation_p.D243G	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	243	Coil 2.|Rod.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|endoplasmic reticulum unfolded protein response (GO:0030968)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|muscle organ development (GO:0007517)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|positive regulation of cell aging (GO:0090343)|protein localization to nucleus (GO:0034504)|regulation of cell migration (GO:0030334)|regulation of protein localization to nucleus (GO:1900180)|sterol regulatory element binding protein import into nucleus (GO:0035105)|ventricular cardiac muscle cell development (GO:0055015)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|lamin filament (GO:0005638)|nuclear envelope (GO:0005635)|nuclear lamina (GO:0005652)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	structural molecule activity (GO:0005198)			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CGGCTGGCGGATGCGCTGCAG	0.582									Werner syndrome;Hutchinson-Gilford Progeria Syndrome																																							0													87.0	83.0	84.0					1																	156104684		2203	4300	6503	SO:0001583	missense	4000	Familial Cancer Database	WS, Adult Progeria;HGPS, Progeria	BC014507	CCDS1129.1, CCDS1131.1, CCDS58038.1, CCDS72941.1, CCDS72942.1	1q22	2014-09-17			ENSG00000160789	ENSG00000160789		"""Intermediate filaments type V, lamins"""	6636	protein-coding gene	gene with protein product		150330	"""cardiomyopathy, dilated 1A (autosomal dominant)"", ""limb girdle muscular dystrophy 1B (autosomal dominant)"", ""progeria 1 (Hutchinson-Gilford type)"", ""lamin A/C-like 1"""	LMN1, CMD1A, LGMD1B, PRO1, LMNL1		8511676, 8838815, 12702809	Standard	NM_005572		Approved	HGPS	uc001fni.3	P02545	OTTHUMG00000013961	ENST00000368300.4:c.728A>G	1.37:g.156104684A>G	ENSP00000357283:p.Asp243Gly		B4DI32|D3DVB0|D6RAQ3|E7EUI9|P02546|Q5I6Y4|Q5I6Y6|Q5TCJ2|Q5TCJ3|Q6UYC3|Q969I8|Q96JA2	Missense_Mutation	SNP	ENST00000368300.4	37	CCDS1129.1	.	.	.	.	.	.	.	.	.	.	A	14.77	2.634620	0.47049	.	.	ENSG00000160789	ENST00000368301;ENST00000347559;ENST00000361308;ENST00000368300;ENST00000368299;ENST00000292302;ENST00000392355;ENST00000448611;ENST00000368297;ENST00000504687;ENST00000473598;ENST00000392353	D;D;D;D;D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	5.45	5.45	0.79879	Filament (1);	0.000000	0.56097	D	0.000022	T	0.81240	0.4781	L	0.39085	1.19	0.58432	D	0.999999	B;B;B;P;B;B;B	0.41188	0.016;0.099;0.018;0.741;0.099;0.003;0.08	B;B;B;B;B;B;B	0.43018	0.034;0.063;0.021;0.405;0.063;0.019;0.037	D	0.83972	0.0327	10	0.51188	T	0.08	.	13.45	0.61165	1.0:0.0:0.0:0.0	.	131;243;144;162;243;243;243	E7EUI9;Q6UYC3;D6RAQ3;Q5TCI8;P02545;P02545-3;P02545-2	.;.;.;.;LMNA_HUMAN;.;.	G	243;243;243;243;243;243;243;131;162;160;144;162	ENSP00000357284:D243G;ENSP00000292304:D243G;ENSP00000355292:D243G;ENSP00000357283:D243G;ENSP00000357282:D243G;ENSP00000395597:D131G;ENSP00000357280:D162G;ENSP00000426535:D160G;ENSP00000421821:D144G;ENSP00000376164:D162G	ENSP00000292302:D243G	D	+	2	0	LMNA	154371308	1.000000	0.71417	0.438000	0.26821	0.781000	0.44180	6.029000	0.70895	2.056000	0.61249	0.379000	0.24179	GAT		0.582	LMNA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039200.2	NM_170707		20	85	20	85
CIC	23152	broad.mit.edu	37	19	42792020	42792021	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:42792020_42792021delAG	ENST00000575354.2	+	6	864_865	c.824_825delAG	c.(823-825)aagfs	p.K276fs	CIC_ENST00000572681.2_Frame_Shift_Del_p.K1185fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.K276fs	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	276					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGGACCGAAAGAAGTCCAGCT	0.649			"""Mis, F, S"""		oligodendroglioma																																		Rec	yes		19	19q13.2	23152	capicua homolog		O	0																																										SO:0001589	frameshift_variant	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.824_825delAG	19.37:g.42792020_42792021delAG	ENSP00000458663:p.Lys276fs		Q7LGI1|Q9UEG5|Q9Y6T1	Frame_Shift_Del	DEL	ENST00000575354.2	37	CCDS12601.1																																																																																				0.649	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			5	5	5	5
