#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	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_type
SPEN	23013	broad.mit.edu	37	1	16260337	16260337	+	Silent	SNP	G	G	C			TCGA-20-0987-01	TCGA-20-0987-10			G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Sequenom_PCR_WGA			Illumina GAIIx	TCGA-20-0987-01	TCGA-20-0987-10	g.chr1:16260337G>C	ENST00000375759.3	+	11	7806	c.7602G>C	c.(7600-7602)ctG>ctC	p.L2534L		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2534	RID.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)	p.L2534L(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CCAGCACCCTGAGGAAGATTC	0.567																																																1	Substitution - coding silent(1)	ovary(1)	1											206.0	209.0	208.0					1																	16260337		2203	4300	6503	16132924	SO:0001819	synonymous_variant	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.7602G>C	1.37:g.16260337G>C		Somatic		x	x	x	16132924	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Silent	SNP	ENST00000375759.3	37	CCDS164.1	SNP	45	Broad																																																																																				0.567	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		Silent
CLCNKA	1187	broad.mit.edu	37	1	16359722	16359722	+	Silent	SNP	A	A	C			TCGA-20-0987-01	TCGA-20-0987-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-20-0987-01	TCGA-20-0987-10	g.chr1:16359722A>C	ENST00000331433.4	+	19	2006	c.1987A>C	c.(1987-1989)Aga>Cga	p.R663R	CLCNKA_ENST00000420078.1_Silent_p.R662R|CLCNKA_ENST00000439316.2_Silent_p.R620R|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000375692.1_Silent_p.R662R			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	663	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)	p.R663R(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ATCGCGGGGCAGAGCTGTGGG	0.607											OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - coding silent(1)	ovary(1)	1											166.0	147.0	153.0					1																	16359722		2203	4300	6503	16232309	SO:0001819	synonymous_variant	1187				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1987A>C	1.37:g.16359722A>C		Unknown	709	x	x	x	16232309	B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Silent	SNP	ENST00000331433.4	37	CCDS167.1	SNP	7	Broad																																																																																				0.607	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			Silent
CACNA1C	775	broad.mit.edu	37	12	2788717	2788717	+	Silent	SNP	G	G	A	rs200638007	byFrequency	TCGA-20-0987-01	TCGA-20-0987-10			G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Sequenom_PCR_WGA			Illumina GAIIx	TCGA-20-0987-01	TCGA-20-0987-10	g.chr12:2788717G>A	ENST00000347598.4	+	44	5343	c.5343G>A	c.(5341-5343)gcG>gcA	p.A1781A	CACNA1C_ENST00000399649.1_Silent_p.A1739A|CACNA1C_ENST00000399621.1_Silent_p.A1752A|CACNA1C_ENST00000406454.3_Silent_p.A1733A|CACNA1C_ENST00000399634.1_Silent_p.A1733A|CACNA1C_ENST00000399597.1_Silent_p.A1733A|CACNA1C_ENST00000327702.7_Silent_p.A1733A|CACNA1C_ENST00000399591.1_Silent_p.A1741A|CACNA1C_ENST00000399601.1_Silent_p.A1733A|CACNA1C_ENST00000399629.1_Silent_p.A1750A|CACNA1C_ENST00000344100.3_Silent_p.A1774A|CACNA1C_ENST00000399655.1_Silent_p.A1733A|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399641.1_Silent_p.A1733A|CACNA1C_ENST00000402845.3_Silent_p.A1752A|CACNA1C_ENST00000335762.5_Silent_p.A1758A|CACNA1C_ENST00000399644.1_Silent_p.A1733A|CACNA1C_ENST00000399637.1_Silent_p.A1752A|CACNA1C_ENST00000399595.1_Silent_p.A1741A|CACNA1C_ENST00000399603.1_Silent_p.A1733A|CACNA1C_ENST00000399638.1_Silent_p.A1761A|CACNA1C_ENST00000399617.1_Silent_p.A1733A|CACNA1C_ENST00000399606.1_Silent_p.A1753A	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1781					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A1268A(1)|p.A1811A(1)		NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TCAACAAGGCGGGCAGCAGCC	0.647													G|||	5	0.000998403	0.0038	0.0	5008	,	,		16413	0.0		0.0	False		,,,				2504	0.0															2	Substitution - coding silent(2)	ovary(2)	12						G	,,,,,,,,,,,,,,,,,,,,,,	5,4249		0,5,2122	45.0	57.0	53.0		5199,5343,5322,5199,5283,5259,5256,5256,5256,5250,5223,5223,5217,5199,5199,5199,5199,5190,5166,5199,5199,5166,5343	-3.4	0.1	12		53	1,8451		0,1,4225	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CACNA1C	NM_000719.6,NM_001129827.1,NM_001129829.1,NM_001129830.1,NM_001129831.1,NM_001129832.1,NM_001129833.1,NM_001129834.1,NM_001129835.1,NM_001129836.1,NM_001129837.1,NM_001129838.1,NM_001129839.1,NM_001129840.1,NM_001129841.1,NM_001129842.1,NM_001129843.1,NM_001129844.1,NM_001129846.1,NM_001167623.1,NM_001167624.1,NM_001167625.1,NM_199460.2	,,,,,,,,,,,,,,,,,,,,,,	0,6,6347	AA,AG,GG		0.0118,0.1175,0.0472	,,,,,,,,,,,,,,,,,,,,,,	1733/2139,1781/2187,1774/2180,1733/2174,1761/2167,1753/2159,1752/2158,1752/2158,1752/2158,1750/2156,1741/2147,1741/2147,1739/2145,1733/2139,1733/2139,1733/2139,1733/2139,1730/2136,1722/2128,1733/2139,1733/2174,1722/2199,1781/2222	2788717	6,12700	2127	4226	6353	2658978	SO:0001819	synonymous_variant	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.5343G>A	12.37:g.2788717G>A		Somatic		x	x	x	2658978	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	ENST00000347598.4	37	CCDS44788.1	SNP	39	Broad																																																																																				0.647	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		Silent
ARF6	382	broad.mit.edu	37	14	50360975	50360975	+	Missense_Mutation	SNP	A	A	G			TCGA-20-0987-01	TCGA-20-0987-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-20-0987-01	TCGA-20-0987-10	g.chr14:50360975A>G	ENST00000298316.5	+	2	1068	c.521A>G	c.(520-522)aAa>aGa	p.K174R		NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN	ADP-ribosylation factor 6	174					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular component movement (GO:0006928)|cortical actin cytoskeleton organization (GO:0030866)|establishment of epithelial cell polarity (GO:0090162)|GTP catabolic process (GO:0006184)|hepatocyte apoptotic process (GO:0097284)|liver development (GO:0001889)|myeloid cell apoptotic process (GO:0033028)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|protein localization to cell surface (GO:0034394)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|regulation of dendritic spine development (GO:0060998)|regulation of filopodium assembly (GO:0051489)|regulation of Rac protein signal transduction (GO:0035020)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|thioesterase binding (GO:0031996)	p.K174R(1)		endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					TCTAACTACAAATCTTAATGA	0.498																																																1	Substitution - Missense(1)	ovary(1)	14											17.0	18.0	17.0					14																	50360975		2198	4286	6484	49430725	SO:0001583	missense	382				CCDS9695.1	14q21.3	2004-06-21			ENSG00000165527	ENSG00000165527		"""ADP-ribosylation factors"""	659	protein-coding gene	gene with protein product		600464				1993656, 10343114	Standard	NM_001663		Approved		uc001wxg.4	P62330	OTTHUMG00000140296	ENST00000298316.5:c.521A>G	14.37:g.50360975A>G	ENSP00000298316:p.Lys174Arg	Unknown		x	x	x	49430725	P26438|Q6FGZ2	Missense_Mutation	SNP	ENST00000298316.5	37	CCDS9695.1	SNP	1	Broad	.	.	.	.	.	.	.	.	.	.	A	15.71	2.915374	0.52546	.	.	ENSG00000165527	ENST00000298316	T	0.73897	-0.79	4.8	4.8	0.61643	.	0.000000	0.85682	D	0.000000	T	0.69223	0.3087	L	0.58354	1.805	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.64681	-0.6350	10	0.20046	T	0.44	-3.5655	14.3555	0.66735	1.0:0.0:0.0:0.0	.	174	P62330	ARF6_HUMAN	R	174	ENSP00000298316:K174R	ENSP00000298316:K174R	K	+	2	0	ARF6	49430725	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.304000	0.96190	1.793000	0.52555	0.402000	0.26972	AAA		0.498	ARF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276883.1	NM_001663		Missense_Mutation
SPTB	6710	broad.mit.edu	37	14	65260213	65260213	+	Missense_Mutation	SNP	G	G	A			TCGA-20-0987-01	TCGA-20-0987-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-20-0987-01	TCGA-20-0987-10	g.chr14:65260213G>A	ENST00000389721.5	-	13	2200	c.2168C>T	c.(2167-2169)gCa>gTa	p.A723V	SPTB_ENST00000556626.1_Missense_Mutation_p.A723V|SPTB_ENST00000542895.1_Missense_Mutation_p.A723V|SPTB_ENST00000389720.3_Missense_Mutation_p.A723V|SPTB_ENST00000389722.3_Missense_Mutation_p.A723V	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	723					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)	p.A723V(1)		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)		GTCCCACTGTGCCGACACCTC	0.582																																																1	Substitution - Missense(1)	ovary(1)	14											57.0	54.0	55.0					14																	65260213		2203	4300	6503	64329966	SO:0001583	missense	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.2168C>T	14.37:g.65260213G>A	ENSP00000374371:p.Ala723Val	Unknown		x	x	x	64329966	Q15510|Q15519	Missense_Mutation	SNP	ENST00000389721.5	37	CCDS32100.1	SNP	46	Broad	.	.	.	.	.	.	.	.	.	.	G	7.680	0.688810	0.14973	.	.	ENSG00000070182	ENST00000389723;ENST00000389722;ENST00000556626;ENST00000389721;ENST00000542895;ENST00000389720	T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72	4.69	1.69	0.24217	.	0.405063	0.28036	N	0.016851	T	0.25531	0.0621	N	0.13235	0.315	0.09310	N	1	B;B	0.11235	0.0;0.004	B;B	0.13407	0.008;0.009	T	0.13072	-1.0523	10	0.29301	T	0.29	.	6.7048	0.23244	0.0842:0.0:0.4634:0.4524	.	723;727	P11277;Q59FP5	SPTB1_HUMAN;.	V	727;723;723;723;723;723	ENSP00000374372:A723V;ENSP00000451752:A723V;ENSP00000374371:A723V;ENSP00000443882:A723V;ENSP00000374370:A723V	ENSP00000374370:A723V	A	-	2	0	SPTB	64329966	0.000000	0.05858	0.254000	0.24359	0.869000	0.49853	-0.744000	0.04839	0.470000	0.27294	0.561000	0.74099	GCA		0.582	SPTB-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414080.1			Missense_Mutation
BAHCC1	57597	broad.mit.edu	37	17	79430702	79430702	+	Missense_Mutation	SNP	G	G	T			TCGA-20-0987-01	TCGA-20-0987-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-20-0987-01	TCGA-20-0987-10	g.chr17:79430702G>T	ENST00000307745.7	+	32	7686	c.7686G>T	c.(7684-7686)caG>caT	p.Q2562H	RP11-1055B8.8_ENST00000572590.1_RNA														p.Q2562H(1)									ACAAGTGCCAGGTCGTGGCGC	0.672																																																1	Substitution - Missense(1)	ovary(1)	17											46.0	53.0	51.0					17																	79430702		2154	4235	6389	77045297	SO:0001583	missense	57597																														ENST00000307745.7:c.7686G>T	17.37:g.79430702G>T	ENSP00000303486:p.Gln2562His	Unknown		x	x	x	77045297		Missense_Mutation	SNP	ENST00000307745.7	37		SNP	35	Broad	.	.	.	.	.	.	.	.	.	.	G	20.9	4.059684	0.76074	.	.	ENSG00000171282	ENST00000307745	D	0.86097	-2.07	4.28	3.29	0.37713	Bromo adjacent homology (BAH) domain (3);	.	.	.	.	D	0.86564	0.5963	L	0.40543	1.245	0.45554	D	0.998509	D	0.69078	0.997	D	0.81914	0.995	T	0.83336	-0.0010	9	0.33940	T	0.23	.	8.6806	0.34207	0.1899:0.0:0.8101:0.0	.	2562	Q9P281	BAHC1_HUMAN	H	2562	ENSP00000303486:Q2562H	ENSP00000303486:Q2562H	Q	+	3	2	AC110285.1	77045297	1.000000	0.71417	0.996000	0.52242	0.961000	0.63080	1.934000	0.40163	0.995000	0.38917	0.655000	0.94253	CAG		0.672	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				Missense_Mutation
MUC16	94025	broad.mit.edu	37	19	9066447	9066447	+	Missense_Mutation	SNP	G	G	C			TCGA-20-0987-01	TCGA-20-0987-10			G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Sequenom_PCR_WGA			Illumina GAIIx	TCGA-20-0987-01	TCGA-20-0987-10	g.chr19:9066447G>C	ENST00000397910.4	-	3	21202	c.20999C>G	c.(20998-21000)tCt>tGt	p.S7000C		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7002	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S2633C(1)|p.S7000C(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTGGACTGAGAAGGGCCAGG	0.493																																																2	Substitution - Missense(2)	ovary(2)	19											265.0	246.0	252.0					19																	9066447		1991	4178	6169	8927447	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20999C>G	19.37:g.9066447G>C	ENSP00000381008:p.Ser7000Cys	Somatic		x	x	x	8927447	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	SNP	33	Broad	.	.	.	.	.	.	.	.	.	.	g	3.386	-0.125405	0.06795	.	.	ENSG00000181143	ENST00000397910	T	0.02737	4.18	2.77	0.45	0.16624	.	.	.	.	.	T	0.02380	0.0073	N	0.22421	0.69	.	.	.	P	0.39624	0.681	B	0.38020	0.263	T	0.39961	-0.9588	8	0.87932	D	0	.	7.216	0.25959	0.0:0.0:0.5189:0.4811	.	7000	B5ME49	.	C	7000	ENSP00000381008:S7000C	ENSP00000381008:S7000C	S	-	2	0	MUC16	8927447	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.056000	0.11787	0.202000	0.20498	-0.507000	0.04495	TCT		0.493	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		Missense_Mutation
COL5A3	50509	broad.mit.edu	37	19	10091504	10091504	+	Missense_Mutation	SNP	G	G	A			TCGA-20-0987-01	TCGA-20-0987-10			G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Sequenom_PCR_WGA			Illumina GAIIx	TCGA-20-0987-01	TCGA-20-0987-10	g.chr19:10091504G>A	ENST00000264828.3	-	34	2622	c.2537C>T	c.(2536-2538)gCc>gTc	p.A846V		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	846	Collagen-like 3.|Triple-helical region.				axon guidance (GO:0007411)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)	p.A846V(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TTGCCCTGTGGCACCCGGTTG	0.577																																																1	Substitution - Missense(1)	ovary(1)	19											28.0	28.0	28.0					19																	10091504		2203	4300	6503	9952504	SO:0001583	missense	50509			AF177941	CCDS12222.1	19p13.2	2013-01-16			ENSG00000080573	ENSG00000080573		"""Collagens"""	14864	protein-coding gene	gene with protein product		120216				10722718	Standard	NM_015719		Approved		uc002mmq.1	P25940	OTTHUMG00000150019	ENST00000264828.3:c.2537C>T	19.37:g.10091504G>A	ENSP00000264828:p.Ala846Val	Somatic		x	x	x	9952504	Q9NZQ6	Missense_Mutation	SNP	ENST00000264828.3	37	CCDS12222.1	SNP	42	Broad	.	.	.	.	.	.	.	.	.	.	G	17.17	3.320796	0.60634	.	.	ENSG00000080573	ENST00000264828	D	0.82081	-1.57	4.37	4.37	0.52481	.	0.245701	0.33023	N	0.005374	T	0.73984	0.3657	L	0.35288	1.05	0.34612	D	0.717728	B	0.30851	0.297	B	0.29077	0.098	T	0.77389	-0.2606	10	0.24483	T	0.36	.	14.4398	0.67309	0.0:0.0:1.0:0.0	.	846	P25940	CO5A3_HUMAN	V	846	ENSP00000264828:A846V	ENSP00000264828:A846V	A	-	2	0	COL5A3	9952504	0.998000	0.40836	0.226000	0.23910	0.915000	0.54546	6.211000	0.72182	1.993000	0.58246	0.305000	0.20034	GCC		0.577	COL5A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315788.1	NM_015719		Missense_Mutation
ZNF507	22847	broad.mit.edu	37	19	32844300	32844300	+	Silent	SNP	C	C	T			TCGA-20-0987-01	TCGA-20-0987-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-20-0987-01	TCGA-20-0987-10	g.chr19:32844300C>T	ENST00000311921.4	+	2	756	c.564C>T	c.(562-564)tcC>tcT	p.S188S	ZNF507_ENST00000544431.1_Silent_p.S188S|ZNF507_ENST00000355898.5_Silent_p.S188S	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	188					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S188S(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					ACACCCAATCCAAAGCCCAAC	0.468																																																1	Substitution - coding silent(1)	ovary(1)	19											78.0	79.0	79.0					19																	32844300		2203	4300	6503	37536140	SO:0001819	synonymous_variant	22847			AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.564C>T	19.37:g.32844300C>T		Unknown		x	x	x	37536140	A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Silent	SNP	ENST00000311921.4	37	CCDS32985.1	SNP	21	Broad																																																																																				0.468	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910		Silent
MEGF8	1954	broad.mit.edu	37	19	42854513	42854513	+	Missense_Mutation	SNP	C	C	T	rs375529059		TCGA-20-0987-01	TCGA-20-0987-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-20-0987-01	TCGA-20-0987-10	g.chr19:42854513C>T	ENST00000251268.6	+	15	2713	c.2713C>T	c.(2713-2715)Cgg>Tgg	p.R905W	MEGF8_ENST00000334370.4_Missense_Mutation_p.R838W	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	905	PSI 3.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.R446W(1)|p.R905W(1)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CGAGGAGCATCGGGACTGCCA	0.692																																																2	Substitution - Missense(2)	ovary(2)	19						C	TRP/ARG	0,4398		0,0,2199	13.0	13.0	13.0		2512	4.9	1.0	19		13	1,8579		0,1,4289	no	missense	MEGF8	NM_001410.2	101	0,1,6488	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	838/2779	42854513	1,12977	2199	4290	6489	47546353	SO:0001583	missense	1954			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.2713C>T	19.37:g.42854513C>T	ENSP00000251268:p.Arg905Trp	Unknown		x	x	x	47546353	A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37		SNP	31	Broad	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769762	0.69992	0.0	1.17E-4	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.21191	2.02;2.02	4.93	4.93	0.64822	.	0.000000	0.64402	D	0.000003	T	0.35624	0.0938	L	0.44542	1.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.965;0.984	T	0.06215	-1.0839	10	0.66056	D	0.02	-24.1292	10.8432	0.46728	0.1885:0.8114:0.0:0.0	.	905;838	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	W	838;905	ENSP00000334219:R838W;ENSP00000251268:R905W	ENSP00000251268:R905W	R	+	1	2	MEGF8	47546353	1.000000	0.71417	0.998000	0.56505	0.766000	0.43426	3.240000	0.51368	2.288000	0.76882	0.561000	0.74099	CGG		0.692	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		Missense_Mutation
PPP6R1	22870	broad.mit.edu	37	19	55748135	55748135	+	Missense_Mutation	SNP	C	C	T			TCGA-20-0987-01	TCGA-20-0987-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-20-0987-01	TCGA-20-0987-10	g.chr19:55748135C>T	ENST00000412770.2	-	17	2430	c.1864G>A	c.(1864-1866)Gat>Aat	p.D622N	PPP6R1_ENST00000587283.1_Missense_Mutation_p.D622N|AC010327.1_ENST00000581390.1_RNA	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	622					regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)	p.D622N(1)		breast(1)	1						TCCTCATCATCATCAAACTGC	0.637																																																1	Substitution - Missense(1)	ovary(1)	19											85.0	86.0	86.0					19																	55748135		2037	4179	6216	60439947	SO:0001583	missense	22870			AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	29195	protein-coding gene	gene with protein product		610875	"""KIAA1115"", ""SAPS domain family, member 1"""	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.1864G>A	19.37:g.55748135C>T	ENSP00000414202:p.Asp622Asn	Unknown		x	x	x	60439947	Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Missense_Mutation	SNP	ENST00000412770.2	37	CCDS46186.1	SNP	29	Broad	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017303	0.93404	.	.	ENSG00000105063	ENST00000412770	T	0.69040	-0.37	4.69	4.69	0.59074	.	0.224065	0.31370	N	0.007772	T	0.73984	0.3657	L	0.42245	1.32	0.51233	D	0.999917	D	0.69078	0.997	P	0.61397	0.888	T	0.75838	-0.3176	10	0.56958	D	0.05	-26.6719	16.8962	0.86101	0.0:1.0:0.0:0.0	.	622	Q9UPN7	PP6R1_HUMAN	N	622	ENSP00000414202:D622N	ENSP00000414202:D622N	D	-	1	0	PPP6R1	60439947	1.000000	0.71417	0.996000	0.52242	0.954000	0.61252	6.669000	0.74462	2.589000	0.87451	0.563000	0.77884	GAT		0.637	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452663.1	NM_014931		Missense_Mutation
FZD7	8324	broad.mit.edu	37	2	202900538	202900538	+	Missense_Mutation	SNP	G	G	A			TCGA-20-0987-01	TCGA-20-0987-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-20-0987-01	TCGA-20-0987-10	g.chr2:202900538G>A	ENST00000286201.1	+	1	1229	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	390					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|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)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.A390T(1)		breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GGCCGTGCCCGCCGTCAAGAC	0.667											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				1	Substitution - Missense(1)	ovary(1)	2											45.0	50.0	49.0					2																	202900538		2203	4299	6502	202608783	SO:0001583	missense	8324			AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.1168G>A	2.37:g.202900538G>A	ENSP00000286201:p.Ala390Thr	Unknown	2133	x	x	x	202608783	O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	CCDS2351.1	SNP	38	Broad	.	.	.	.	.	.	.	.	.	.	G	24.2	4.504401	0.85176	.	.	ENSG00000155760	ENST00000286201	D	0.82433	-1.61	5.53	5.53	0.82687	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.91422	0.7293	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.90349	0.4365	10	0.39692	T	0.17	.	19.4726	0.94969	0.0:0.0:1.0:0.0	.	390	O75084	FZD7_HUMAN	T	390	ENSP00000286201:A390T	ENSP00000286201:A390T	A	+	1	0	FZD7	202608783	1.000000	0.71417	0.953000	0.39169	0.913000	0.54294	9.862000	0.99564	2.618000	0.88619	0.561000	0.74099	GCC		0.667	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	NM_003507		Missense_Mutation
NOP56	10528	broad.mit.edu	37	20	2636148	2636148	+	Silent	SNP	G	G	A			TCGA-20-0987-01	TCGA-20-0987-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-20-0987-01	TCGA-20-0987-10	g.chr20:2636148G>A	ENST00000329276.5	+	6	1263	c.747G>A	c.(745-747)cgG>cgA	p.R249R	MIR1292_ENST00000408135.1_RNA|SNORD56_ENST00000413522.1_RNA|IDH3B_ENST00000488299.1_5'Flank|SNORD110_ENST00000408189.1_RNA|SNORD86_ENST00000391196.1_RNA|SNORD57_ENST00000448188.1_RNA|SNORA51_ENST00000606420.1_RNA	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	249					cell death (GO:0008219)|rRNA processing (GO:0006364)	box C/D snoRNP complex (GO:0031428)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|pre-snoRNP complex (GO:0070761)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|snoRNA binding (GO:0030515)	p.R249R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						ATGCCTCACGGTCCTCCATGG	0.522																																																1	Substitution - coding silent(1)	ovary(1)	20											114.0	105.0	108.0					20																	2636148		2203	4300	6503	2584148	SO:0001819	synonymous_variant	10528			Y12065	CCDS13030.1	20p13	2012-12-10	2012-12-10	2009-01-13	ENSG00000101361	ENSG00000101361			15911	protein-coding gene	gene with protein product	"""spinocerebellar ataxia 36"""	614154	"""nucleolar protein 5A (56kD with KKE/D repeat)"", ""nucleolar protein 5A (56kDa with KKE/D repeat)"", ""NOP56 ribonucleoprotein homolog (yeast)"""	NOL5A		9372940, 21683323	Standard	NR_027700		Approved	SCA36	uc002wgh.3	O00567	OTTHUMG00000031703	ENST00000329276.5:c.747G>A	20.37:g.2636148G>A		Unknown		x	x	x	2584148	Q2M3T6|Q9NQ05	Silent	SNP	ENST00000329276.5	37	CCDS13030.1	SNP	44	Broad																																																																																				0.522	NOP56-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077631.2	NM_006392		Silent
XIRP1	165904	broad.mit.edu	37	3	39229118	39229118	+	Missense_Mutation	SNP	C	C	T	rs148879455	byFrequency	TCGA-20-0987-01	TCGA-20-0987-10			C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	Sequenom_PCR_WGA			Illumina GAIIx	TCGA-20-0987-01	TCGA-20-0987-10	g.chr3:39229118C>T	ENST00000340369.3	-	2	2047	c.1819G>A	c.(1819-1821)Gcc>Acc	p.A607T	XIRP1_ENST00000396251.1_Missense_Mutation_p.A607T|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	607	Interaction with CTNNB1. {ECO:0000250}.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)	p.A607T(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGCTTTTCGGCCAACTCACTC	0.602																																																1	Substitution - Missense(1)	ovary(1)	3											82.0	71.0	75.0					3																	39229118		2203	4300	6503	39204122	SO:0001583	missense	165904			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1819G>A	3.37:g.39229118C>T	ENSP00000343140:p.Ala607Thr	Somatic		x	x	x	39204122	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Missense_Mutation	SNP	ENST00000340369.3	37	CCDS2683.1	SNP	26	Broad	.	.	.	.	.	.	.	.	.	.	C	6.198	0.404733	0.11754	.	.	ENSG00000168334	ENST00000396251;ENST00000340369	T;T	0.05025	3.51;3.9	4.8	2.8	0.32819	.	0.393695	0.25352	U	0.031287	T	0.06826	0.0174	M	0.70595	2.14	0.09310	N	0.99999	P;P	0.39665	0.651;0.682	B;B	0.32289	0.143;0.117	T	0.27739	-1.0065	10	0.33141	T	0.24	.	7.1759	0.25744	0.3416:0.4921:0.1662:0.0	.	607;607	Q702N8;Q702N8-2	XIRP1_HUMAN;.	T	607	ENSP00000379550:A607T;ENSP00000343140:A607T	ENSP00000343140:A607T	A	-	1	0	XIRP1	39204122	0.953000	0.32496	0.426000	0.26672	0.895000	0.52256	1.480000	0.35464	1.114000	0.41781	0.462000	0.41574	GCC		0.602	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		Missense_Mutation
DUSP7	1849	broad.mit.edu	37	3	52084904	52084904	+	Missense_Mutation	SNP	G	G	A			TCGA-20-0987-01	TCGA-20-0987-10			G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Sequenom_PCR_WGA			Illumina GAIIx	TCGA-20-0987-01	TCGA-20-0987-10	g.chr3:52084904G>A	ENST00000495880.1	-	3	1370	c.1187C>T	c.(1186-1188)tCg>tTg	p.S396L	DUSP7_ENST00000296483.6_Missense_Mutation_p.S345L			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	396					inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)	p.S345L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CTGCTCACTCGACGCGTGGTT	0.597																																																1	Substitution - Missense(1)	ovary(1)	3											166.0	129.0	142.0					3																	52084904		2203	4300	6503	52059944	SO:0001583	missense	1849			X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.1187C>T	3.37:g.52084904G>A	ENSP00000417183:p.Ser396Leu	Somatic		x	x	x	52059944	Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	ENST00000495880.1	37	CCDS33766.2	SNP	37	Broad	.	.	.	.	.	.	.	.	.	.	g	19.45	3.830593	0.71258	.	.	ENSG00000164086	ENST00000495880;ENST00000296483	T;T	0.02525	4.26;4.28	5.75	5.75	0.90469	.	0.165531	0.53938	D	0.000043	T	0.04048	0.0113	L	0.39898	1.24	0.31630	N	0.649209	P	0.34462	0.454	B	0.26969	0.075	T	0.08351	-1.0726	10	0.56958	D	0.05	.	19.557	0.95354	0.0:0.0:1.0:0.0	.	396	Q16829	DUS7_HUMAN	L	396;345	ENSP00000417183:S396L;ENSP00000296483:S345L	ENSP00000296483:S345L	S	-	2	0	DUSP7	52059944	1.000000	0.71417	0.981000	0.43875	0.510000	0.34073	3.538000	0.53597	2.722000	0.93159	0.643000	0.83706	TCG		0.597	DUSP7-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000349697.1	NM_001947		Missense_Mutation
HADH	3033	broad.mit.edu	37	4	108955465	108955465	+	Silent	SNP	G	G	A			TCGA-20-0987-01	TCGA-20-0987-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-20-0987-01	TCGA-20-0987-10	g.chr4:108955465G>A	ENST00000309522.3	+	8	1046	c.897G>A	c.(895-897)gaG>gaA	p.E299E	HADH_ENST00000603302.1_Silent_p.E316E|HADH_ENST00000454409.2_Silent_p.E303E|HADH_ENST00000510728.1_3'UTR|HADH_ENST00000505878.1_Silent_p.E303E|HADH_ENST00000403312.1_Silent_p.E375E	NM_005327.4	NP_005318	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	625					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)	p.E299E(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		TGGTAGCAGAGAACAAGTTCG	0.488																																																1	Substitution - coding silent(1)	ovary(1)	4											134.0	136.0	135.0					4																	108955465		2203	4300	6503	109174914	SO:0001819	synonymous_variant	3033			X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"""L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain"", ""hydroxyacyl-Coenzyme A dehydrogenase"""	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000309522.3:c.897G>A	4.37:g.108955465G>A		Unknown		x	x	x	109174914	B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Silent	SNP	ENST00000309522.3	37	CCDS3678.1	SNP	33	Broad																																																																																				0.488	HADH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254750.2	NM_005327		Silent
SFRP2	6423	broad.mit.edu	37	4	154702787	154702787	+	Missense_Mutation	SNP	G	G	A			TCGA-20-0987-01	TCGA-20-0987-10			G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	Sequenom_PCR_WGA			Illumina GAIIx	TCGA-20-0987-01	TCGA-20-0987-10	g.chr4:154702787G>A	ENST00000274063.4	-	3	988	c.704C>T	c.(703-705)tCg>tTg	p.S235L		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	235	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.S235L(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CCACAGCACCGATTTCTTCAG	0.512																																																1	Substitution - Missense(1)	ovary(1)	4											216.0	178.0	191.0					4																	154702787		2203	4300	6503	154922237	SO:0001583	missense	6423			AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"""Secreted frizzled-related proteins"""	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.704C>T	4.37:g.154702787G>A	ENSP00000274063:p.Ser235Leu	Somatic		x	x	x	154922237	B3KQR2|O14778|Q9HAP5	Missense_Mutation	SNP	ENST00000274063.4	37	CCDS34082.1	SNP	37	Broad	.	.	.	.	.	.	.	.	.	.	G	5.762	0.324980	0.10900	.	.	ENSG00000145423	ENST00000274063	T	0.21361	2.01	5.95	5.95	0.96441	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.106074	0.64402	D	0.000008	T	0.06508	0.0167	N	0.00661	-1.28	0.47374	D	0.999408	B	0.14012	0.009	B	0.08055	0.003	T	0.39840	-0.9594	10	0.10377	T	0.69	.	13.9728	0.64252	0.0777:0.0:0.9223:0.0	.	235	Q96HF1	SFRP2_HUMAN	L	235	ENSP00000274063:S235L	ENSP00000274063:S235L	S	-	2	0	SFRP2	154922237	1.000000	0.71417	0.876000	0.34364	0.993000	0.82548	4.893000	0.63199	2.811000	0.96726	0.655000	0.94253	TCG		0.512	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			Missense_Mutation
TMEM200A	114801	broad.mit.edu	37	6	130762600	130762600	+	Missense_Mutation	SNP	C	C	G			TCGA-20-0987-01	TCGA-20-0987-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-20-0987-01	TCGA-20-0987-10	g.chr6:130762600C>G	ENST00000296978.3	+	3	1904	c.1033C>G	c.(1033-1035)Cta>Gta	p.L345V	TMEM200A_ENST00000392429.1_Missense_Mutation_p.L345V|TMEM200A_ENST00000545622.1_Missense_Mutation_p.L345V	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	345						integral component of membrane (GO:0016021)		p.L345V(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CAGCACAGTGCTACCAAGGAA	0.517																																																2	Substitution - Missense(2)	ovary(2)	6											86.0	81.0	83.0					6																	130762600		2203	4300	6503	130804293	SO:0001583	missense	114801			AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.1033C>G	6.37:g.130762600C>G	ENSP00000296978:p.Leu345Val	Unknown		x	x	x	130804293	Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	CCDS5140.1	SNP	28	Broad	.	.	.	.	.	.	.	.	.	.	C	5.582	0.292176	0.10567	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.93	5.06	0.68205	.	0.304482	0.30575	N	0.009331	T	0.21801	0.0525	L	0.32530	0.975	0.51482	D	0.999922	B	0.16603	0.018	B	0.17979	0.02	T	0.11542	-1.0583	9	0.05959	T	0.93	.	10.6606	0.45700	0.1323:0.7997:0.0:0.068	.	345	Q86VY9	T200A_HUMAN	V	345	.	ENSP00000296978:L345V	L	+	1	2	TMEM200A	130804293	0.988000	0.35896	0.890000	0.34922	0.135000	0.20990	2.794000	0.47853	1.517000	0.48917	0.655000	0.94253	CTA		0.517	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		Missense_Mutation
PCLO	27445	broad.mit.edu	37	7	82585727	82585727	+	Silent	SNP	T	T	C			TCGA-20-0987-01	TCGA-20-0987-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-20-0987-01	TCGA-20-0987-10	g.chr7:82585727T>C	ENST00000333891.9	-	5	4879	c.4542A>G	c.(4540-4542)gaA>gaG	p.E1514E	PCLO_ENST00000423517.2_Silent_p.E1514E	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein									p.E1514E(1)|p.E1445E(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACTACTCTCTTCAACTGAAT	0.398																																																2	Substitution - coding silent(2)	ovary(2)	7											120.0	109.0	112.0					7																	82585727		1875	4109	5984	82423663	SO:0001819	synonymous_variant	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4542A>G	7.37:g.82585727T>C		Unknown		x	x	x	82423663		Silent	SNP	ENST00000333891.9	37	CCDS47630.1	SNP	56	Broad																																																																																				0.398	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		Silent
RBM28	55131	broad.mit.edu	37	7	127970914	127970914	+	Missense_Mutation	SNP	A	A	C			TCGA-20-0987-01	TCGA-20-0987-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-20-0987-01	TCGA-20-0987-10	g.chr7:127970914A>C	ENST00000223073.2	-	10	1201	c.1087T>G	c.(1087-1089)Tat>Gat	p.Y363D	RBM28_ENST00000415472.2_Missense_Mutation_p.Y222D	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28	363	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleolus (GO:0005730)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Y363D(1)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ATGCGGACATATTTGAGTTCT	0.463																																																1	Substitution - Missense(1)	ovary(1)	7											119.0	106.0	110.0					7																	127970914		2203	4300	6503	127758150	SO:0001583	missense	55131			AK001239	CCDS5801.1, CCDS55159.1	7q32.2	2013-02-12			ENSG00000106344	ENSG00000106344		"""RNA binding motif (RRM) containing"""	21863	protein-coding gene	gene with protein product		612074					Standard	NM_018077		Approved	FLJ10377	uc003vmp.2	Q9NW13	OTTHUMG00000157711	ENST00000223073.2:c.1087T>G	7.37:g.127970914A>C	ENSP00000223073:p.Tyr363Asp	Unknown		x	x	x	127758150	A4D100|B4DU52|E9PDD9|Q53H65|Q96CV3	Missense_Mutation	SNP	ENST00000223073.2	37	CCDS5801.1	SNP	16	Broad	.	.	.	.	.	.	.	.	.	.	A	22.6	4.311615	0.81358	.	.	ENSG00000106344	ENST00000223073;ENST00000415472	T;T	0.14516	2.5;2.5	5.52	5.52	0.82312	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.134339	0.52532	D	0.000080	T	0.24236	0.0587	N	0.25144	0.715	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.969;0.999	T	0.02893	-1.1097	10	0.72032	D	0.01	-11.2769	13.5917	0.61964	1.0:0.0:0.0:0.0	.	222;363	E9PDD9;Q9NW13	.;RBM28_HUMAN	D	363;222	ENSP00000223073:Y363D;ENSP00000390517:Y222D	ENSP00000223073:Y363D	Y	-	1	0	RBM28	127758150	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.700000	0.84556	2.101000	0.63845	0.533000	0.62120	TAT		0.463	RBM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349442.2	NM_018077		Missense_Mutation
JPH1	56704	broad.mit.edu	37	8	75156894	75156894	+	Missense_Mutation	SNP	G	G	A			TCGA-20-0987-01	TCGA-20-0987-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-20-0987-01	TCGA-20-0987-10	g.chr8:75156894G>A	ENST00000342232.4	-	4	1815	c.1775C>T	c.(1774-1776)tCc>tTc	p.S592F	JPH1_ENST00000518195.1_5'UTR	NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	592					calcium ion transport into cytosol (GO:0060402)|muscle organ development (GO:0007517)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.S592F(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CACAGATTTGGAGGGACTCCA	0.517																																																1	Substitution - Missense(1)	ovary(1)	8											197.0	187.0	190.0					8																	75156894		2203	4300	6503	75319448	SO:0001583	missense	56704			AB042634	CCDS6217.1	8q21	2008-07-03			ENSG00000104369	ENSG00000104369			14201	protein-coding gene	gene with protein product		605266				10891348, 10949023	Standard	XM_005251273		Approved	JP-1	uc003yae.3	Q9HDC5	OTTHUMG00000164524	ENST00000342232.4:c.1775C>T	8.37:g.75156894G>A	ENSP00000344488:p.Ser592Phe	Unknown		x	x	x	75319448	B2RTZ0	Missense_Mutation	SNP	ENST00000342232.4	37	CCDS6217.1	SNP	41	Broad	.	.	.	.	.	.	.	.	.	.	G	14.09	2.432001	0.43122	.	.	ENSG00000104369	ENST00000342232	T	0.57595	0.39	5.38	5.38	0.77491	.	0.450948	0.22918	N	0.054045	T	0.34221	0.0890	N	0.08118	0	0.24652	N	0.993512	B	0.26876	0.162	B	0.24541	0.054	T	0.36601	-0.9741	10	0.66056	D	0.02	.	14.2007	0.65703	0.0:0.0:0.8507:0.1493	.	592	Q9HDC5	JPH1_HUMAN	F	592	ENSP00000344488:S592F	ENSP00000344488:S592F	S	-	2	0	JPH1	75319448	1.000000	0.71417	0.993000	0.49108	0.997000	0.91878	5.669000	0.68081	2.813000	0.96785	0.655000	0.94253	TCC		0.517	JPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379102.1			Missense_Mutation
COLEC10	10584	broad.mit.edu	37	8	120118083	120118083	+	Missense_Mutation	SNP	G	G	A			TCGA-20-0987-01	TCGA-20-0987-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-20-0987-01	TCGA-20-0987-10	g.chr8:120118083G>A	ENST00000332843.2	+	6	528	c.487G>A	c.(487-489)Gtg>Atg	p.V163M		NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	163	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					collagen trimer (GO:0005581)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	mannose binding (GO:0005537)	p.V163M(2)		endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CTACTACATCGTGCAGGAAGA	0.463																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	8											76.0	59.0	64.0					8																	120118083		2203	4300	6503	120187264	SO:0001583	missense	10584			AB002631	CCDS6327.1	8q23-q24.1	2007-12-19				ENSG00000184374		"""Collectins"""	2220	protein-coding gene	gene with protein product		607620				10224141	Standard	NM_006438		Approved	CL-L1	uc003yoo.3	Q9Y6Z7		ENST00000332843.2:c.487G>A	8.37:g.120118083G>A	ENSP00000332723:p.Val163Met	Unknown		x	x	x	120187264	Q3SYH6|Q6UW19	Missense_Mutation	SNP	ENST00000332843.2	37	CCDS6327.1	SNP	40	Broad	.	.	.	.	.	.	.	.	.	.	G	27.3	4.823101	0.90873	.	.	ENSG00000184374	ENST00000332843	T	0.19250	2.16	5.39	5.39	0.77823	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.000000	0.85682	D	0.000000	T	0.46795	0.1411	M	0.69185	2.1	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.16041	-1.0416	10	0.33940	T	0.23	-19.6273	19.5182	0.95174	0.0:0.0:1.0:0.0	.	163	Q9Y6Z7	COL10_HUMAN	M	163	ENSP00000332723:V163M	ENSP00000332723:V163M	V	+	1	0	COLEC10	120187264	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.622000	0.98378	2.692000	0.91855	0.555000	0.69702	GTG		0.463	COLEC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381225.1			Missense_Mutation
GTF3C4	9329	broad.mit.edu	37	9	135554145	135554145	+	Missense_Mutation	SNP	A	A	G			TCGA-20-0987-01	TCGA-20-0987-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-20-0987-01	TCGA-20-0987-10	g.chr9:135554145A>G	ENST00000372146.4	+	2	1703	c.1139A>G	c.(1138-1140)tAt>tGt	p.Y380C	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	380					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)	p.Y380C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GTGCCACTTTATCATCCTTAC	0.428																																					Pancreas(142;417 1875 11086 31973 47667)											1	Substitution - Missense(1)	ovary(1)	9											153.0	150.0	151.0					9																	135554145		2203	4300	6503	134543966	SO:0001583	missense	9329			AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.1139A>G	9.37:g.135554145A>G	ENSP00000361219:p.Tyr380Cys	Unknown		x	x	x	134543966	Q5VZJ7	Missense_Mutation	SNP	ENST00000372146.4	37	CCDS6953.1	SNP	16	Broad	.	.	.	.	.	.	.	.	.	.	A	15.74	2.923610	0.52653	.	.	ENSG00000125484	ENST00000372146	T	0.46451	0.87	5.61	5.61	0.85477	.	0.241466	0.42294	D	0.000722	T	0.41858	0.1177	N	0.14661	0.345	0.34957	D	0.751792	D	0.63880	0.993	P	0.55965	0.788	T	0.57991	-0.7715	10	0.59425	D	0.04	-22.3592	14.6287	0.68640	1.0:0.0:0.0:0.0	.	380	Q9UKN8	TF3C4_HUMAN	C	380	ENSP00000361219:Y380C	ENSP00000361219:Y380C	Y	+	2	0	GTF3C4	134543966	1.000000	0.71417	0.541000	0.28102	0.985000	0.73830	6.418000	0.73341	2.140000	0.66376	0.402000	0.26972	TAT		0.428	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			Missense_Mutation
TP53	7157	broad.mit.edu	37	17	7579374	7579374	+	Missense_Mutation	SNP	C	C	G			TCGA-20-0987-01	TCGA-20-0987-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-20-0987-01	TCGA-20-0987-10	g.chr17:7579374C>G	ENST00000269305.4	-	4	502	c.313G>C	c.(313-315)Ggc>Cgc	p.G105R	TP53_ENST00000359597.4_Missense_Mutation_p.G105R|TP53_ENST00000445888.2_Missense_Mutation_p.G105R|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G105R|TP53_ENST00000413465.2_Missense_Mutation_p.G105R|TP53_ENST00000420246.2_Missense_Mutation_p.G105R	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	105	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.G105C(5)|p.Q100fs*37(3)|p.G59fs*23(3)|p.G105R(2)|p.G105fs*18(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105S(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCGTAGCTGCCCTGGTAGGTT	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	31	Deletion - Frameshift(12)|Substitution - Missense(8)|Whole gene deletion(8)|Complex - deletion inframe(2)|Deletion - In frame(1)	ovary(6)|lung(5)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|central_nervous_system(3)|liver(2)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	17	GRCh37	CM043949	TP53	M							55.0	55.0	55.0					17																	7579374		2203	4300	6503	7520099	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.313G>C	17.37:g.7579374C>G	ENSP00000269305:p.Gly105Arg	Unknown		Capture	Illumina GAIIx	Phase_I	7520099	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	SNP	22	Broad	.	.	.	.	.	.	.	.	.	.	C	18.55	3.649097	0.67358	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99900	-7.63;-7.63;-7.63;-7.63;-7.63;-7.63;-7.63;-7.63	4.75	4.75	0.60458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99900	0.9952	M	0.90870	3.155	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.993;0.995;1.0;0.999;0.997;1.0	D	0.96097	0.9066	10	0.87932	D	0	-24.4789	15.6419	0.77012	0.0:1.0:0.0:0.0	.	66;105;105;105;105;105;105	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	105	ENSP00000410739:G105R;ENSP00000352610:G105R;ENSP00000269305:G105R;ENSP00000398846:G105R;ENSP00000391127:G105R;ENSP00000391478:G105R;ENSP00000424104:G105R;ENSP00000426252:G105R	ENSP00000269305:G105R	G	-	1	0	TP53	7520099	1.000000	0.71417	0.206000	0.23566	0.368000	0.29767	6.208000	0.72165	2.630000	0.89119	0.655000	0.94253	GGC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Missense_Mutation
KIF26B	55083	broad.mit.edu	37	1	245765974	245765989	+	Frame_Shift_Del	DEL	CTTGTACGATCCCCTG	CTTGTACGATCCCCTG	-			TCGA-20-0987-01	TCGA-20-0987-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-20-0987-01	TCGA-20-0987-10	g.chr1:245765974_245765989delCTTGTACGATCCCCTG	ENST00000407071.2	+	6	1886_1901	c.1446_1461delCTTGTACGATCCCCTG	c.(1444-1461)accttgtacgatcccctgfs	p.TLYDPL482fs	KIF26B_ENST00000366518.4_Frame_Shift_Del_p.TLYDPL101fs	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	482	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				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)	p.Y484fs*42(1)		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)			AGCAGATCACCTTGTACGATCCCCTGACTTGTGGAG	0.486																																																1	Deletion - Frameshift(1)	ovary(1)	1																																								243832612	SO:0001589	frameshift_variant	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.1446_1461delCTTGTACGATCCCCTG	1.37:g.245765974_245765989delCTTGTACGATCCCCTG	ENSP00000385545:p.Thr482fs	Unknown		Capture	Illumina GAIIx	Phase_I	243832597	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Frame_Shift_Del	DEL	ENST00000407071.2	37	CCDS44342.1	DEL	24	Broad																																																																																				0.486	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		Frame_Shift_Del
MYOF	26509	broad.mit.edu	37	10	95134674	95134675	+	Frame_Shift_Ins	INS	-	-	T			TCGA-20-0987-01	TCGA-20-0987-10							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-20-0987-01	TCGA-20-0987-10	g.chr10:95134674_95134675insT	ENST00000359263.4	-	23	2145_2146	c.2146_2147insA	c.(2146-2148)acafs	p.T716fs	MYOF_ENST00000358334.5_Frame_Shift_Ins_p.T703fs|MYOF_ENST00000371502.4_Frame_Shift_Ins_p.T716fs|MYOF_ENST00000371501.4_Frame_Shift_Ins_p.T716fs	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	716					blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)	p.T716fs*20(1)		NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATCGAGAACTGTGACGTTGGCT	0.45																																																1	Insertion - Frameshift(1)	ovary(1)	10																																								95124665	SO:0001589	frameshift_variant	26509			AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.2147dupA	10.37:g.95134675_95134675dupT	ENSP00000352208:p.Thr716fs	Unknown		Capture	Illumina GAIIx	Phase_I	95124664	B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Frame_Shift_Ins	INS	ENST00000359263.4	37	CCDS41551.1	INS	48	Broad																																																																																				0.450	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		Frame_Shift_Ins
CDK12	51755	broad.mit.edu	37	17	37671993	37671994	+	Frame_Shift_Ins	INS	-	-	G			TCGA-20-0987-01	TCGA-20-0987-10			G	-	-	-	Unknown	Valid	Somatic	Phase_I	WXS	none			Illumina GAIIx	TCGA-20-0987-01	TCGA-20-0987-10	g.chr17:37671993_37671994insG	ENST00000447079.4	+	9	2811_2812	c.2778_2779insG	c.(2779-2781)gggfs	p.G927fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.G927fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	927	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)	p.E928fs*27(1)		NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GATGTATTCTTGGGGAACTATT	0.381			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																													Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	1	Insertion - Frameshift(1)	ovary(1)	17																																								34925520	SO:0001589	frameshift_variant	51755			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2782dupG	17.37:g.37671997_37671997dupG	ENSP00000398880:p.Gly927fs	Somatic		Capture	Illumina GAIIx	Phase_I	34925519	A7E2B2|B4DYX4|B9EIQ6|O94978	Frame_Shift_Ins	INS	ENST00000447079.4	37	CCDS11337.1	INS	63	Broad																																																																																				0.381	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		Frame_Shift_Ins
