#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_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
C1orf87	127795	broad.mit.edu	37	1	60505704	60505704	+	Missense_Mutation	SNP	C	C	T			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr1:60505704C>T	ENST00000371201.3	-	5	739	c.632G>A	c.(631-633)gGa>gAa	p.G211E	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	211							calcium ion binding (GO:0005509)	p.G211E(1)		breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GAGAAGAAATCCTGAAGAGAT	0.433																																					NSCLC(75;811 1386 4923 13371 51772)											1	Substitution - Missense(1)	ovary(1)	1											105.0	118.0	113.0					1																	60505704		2203	4300	6503	60278292	SO:0001583	missense	127795			AK124828	CCDS614.1	1p32.1	2014-04-03			ENSG00000162598	ENSG00000162598			28547	protein-coding gene	gene with protein product	"""carcinoma-related EF-hand protein"""					12477932	Standard	NM_152377		Approved	MGC34837, CREF	uc001czs.2	Q8N0U7	OTTHUMG00000008992	ENST00000371201.3:c.632G>A	1.37:g.60505704C>T	ENSP00000360244:p.Gly211Glu		60278292	Q6ZU07|Q8IVS0	Missense_Mutation	SNP	ENST00000371201.3	37	CCDS614.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878538	0.72294	.	.	ENSG00000162598	ENST00000371201	T	0.63255	-0.03	5.18	5.18	0.71444	EF-hand-like domain (1);	0.000000	0.52532	D	0.000067	T	0.72930	0.3522	M	0.63843	1.955	0.80722	D	1	P	0.42785	0.79	P	0.54401	0.751	T	0.75178	-0.3409	10	0.87932	D	0	-22.3915	15.7235	0.77732	0.0:1.0:0.0:0.0	.	211	Q8N0U7	CA087_HUMAN	E	211	ENSP00000360244:G211E	ENSP00000360244:G211E	G	-	2	0	C1orf87	60278292	0.987000	0.35691	1.000000	0.80357	0.775000	0.43874	2.683000	0.46943	2.710000	0.92621	0.650000	0.86243	GGA		0.433	C1orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024943.1	NM_152377	
RPRD2	23248	broad.mit.edu	37	1	150443802	150443802	+	Missense_Mutation	SNP	G	G	A			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr1:150443802G>A	ENST00000369068.4	+	11	2382	c.2378G>A	c.(2377-2379)gGt>gAt	p.G793D	RPRD2_ENST00000539519.1_Missense_Mutation_p.G767D|RPRD2_ENST00000401000.4_Missense_Mutation_p.G767D|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	793	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)		p.G793D(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CGACCCTTTGGTCTGGGCAGT	0.498																																																1	Substitution - Missense(1)	ovary(1)	1											80.0	73.0	75.0					1																	150443802		1880	4112	5992	148710426	SO:0001583	missense	23248			BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.2378G>A	1.37:g.150443802G>A	ENSP00000358064:p.Gly793Asp		148710426	A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	G	17.16	3.319831	0.60634	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.59772	0.3;0.24;0.3	5.0	5.0	0.66597	.	0.134498	0.49916	D	0.000140	T	0.49881	0.1583	L	0.27053	0.805	0.36667	D	0.878279	D;D;D	0.57257	0.964;0.964;0.979	P;P;P	0.53518	0.452;0.539;0.728	T	0.55347	-0.8155	10	0.54805	T	0.06	-10.1098	18.5409	0.91027	0.0:0.0:1.0:0.0	.	767;793;767	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	D	767;767;793	ENSP00000383785:G767D;ENSP00000445482:G767D;ENSP00000358064:G793D	ENSP00000358064:G793D	G	+	2	0	RPRD2	148710426	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.757000	0.55212	2.608000	0.88229	0.650000	0.86243	GGT		0.498	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203	
C1orf95	375057	broad.mit.edu	37	1	226784593	226784593	+	Missense_Mutation	SNP	C	C	A			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr1:226784593C>A	ENST00000366788.3	+	2	398	c.293C>A	c.(292-294)gCa>gAa	p.A98E	C1orf95_ENST00000366789.4_Missense_Mutation_p.A98E	NM_001003665.3	NP_001003665.1	Q69YW2	STUM_HUMAN	chromosome 1 open reading frame 95	98						integral component of membrane (GO:0016021)		p.A98E(1)		large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		CTGAACATTGCAGCAGCCCTC	0.592																																																1	Substitution - Missense(1)	ovary(1)	1											164.0	142.0	149.0					1																	226784593		2203	4300	6503	224851216	SO:0001583	missense	375057			AF035308	CCDS31044.1	1q42.12	2012-06-26			ENSG00000203685	ENSG00000203685			30491	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001003665		Approved	DKFZp761P211	uc021pjw.1	Q69YW2	OTTHUMG00000037583	ENST00000366788.3:c.293C>A	1.37:g.226784593C>A	ENSP00000355752:p.Ala98Glu		224851216	A6NGL2	Missense_Mutation	SNP	ENST00000366788.3	37	CCDS31044.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.039429	0.93630	.	.	ENSG00000203685	ENST00000366788;ENST00000366789	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.75722	0.3888	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.76380	-0.2980	9	0.66056	D	0.02	-0.1126	19.3828	0.94543	0.0:1.0:0.0:0.0	.	98	Q69YW2	CA095_HUMAN	E	98	.	ENSP00000355752:A98E	A	+	2	0	C1orf95	224851216	1.000000	0.71417	0.752000	0.31206	0.852000	0.48524	7.730000	0.84881	2.669000	0.90835	0.561000	0.74099	GCA		0.592	C1orf95-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091634.1	NM_001003665	
CCDC6	8030	broad.mit.edu	37	10	61552776	61552776	+	Missense_Mutation	SNP	G	G	A	rs199549238		TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr10:61552776G>A	ENST00000263102.6	-	9	1555	c.1324C>T	c.(1324-1326)Ccg>Tcg	p.P442S		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	442	Poly-Pro.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	structural constituent of cytoskeleton (GO:0005200)	p.P442S(1)	CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		GGTGGAGGCGGAGGTGGCTGG	0.637			T	RET	NSCLC																																		Dom	yes		10	10q21	8030	coiled-coil domain containing 6		E	1	Substitution - Missense(1)	ovary(1)	10											164.0	153.0	157.0					10																	61552776		2203	4300	6503	61222782	SO:0001583	missense	8030			S72869	CCDS7257.1	10q21.2	2006-11-09	2004-01-20		ENSG00000108091	ENSG00000108091			18782	protein-coding gene	gene with protein product	"""DNA segment, single copy, probe pH4 (transforming sequence, thyroid-1"""	601985	"""DNA segment on chromosome 10 (unique) 170"""	TST1, D10S170		8058316, 6745938	Standard	NM_005436		Approved	PTC, TPC, H4	uc001jks.4	Q16204	OTTHUMG00000018284	ENST00000263102.6:c.1324C>T	10.37:g.61552776G>A	ENSP00000263102:p.Pro442Ser		61222782	Q15250|Q6GSG7	Missense_Mutation	SNP	ENST00000263102.6	37	CCDS7257.1	.	.	.	.	.	.	.	.	.	.	G	16.71	3.197594	0.58126	.	.	ENSG00000108091	ENST00000263102	T	0.44482	0.92	5.6	5.6	0.85130	.	0.103596	0.64402	D	0.000002	T	0.33118	0.0852	L	0.36672	1.1	0.80722	D	1	B	0.30793	0.295	B	0.29267	0.1	T	0.17198	-1.0377	10	0.02654	T	1	-9.6528	19.9854	0.97342	0.0:0.0:1.0:0.0	.	442	Q16204	CCDC6_HUMAN	S	442	ENSP00000263102:P442S	ENSP00000263102:P442S	P	-	1	0	CCDC6	61222782	1.000000	0.71417	0.972000	0.41901	0.982000	0.71751	9.420000	0.97426	2.786000	0.95864	0.563000	0.77884	CCG		0.637	CCDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048176.2	NM_005436	
KCNJ1	3758	broad.mit.edu	37	11	128709604	128709604	+	Missense_Mutation	SNP	C	C	T	rs104894253		TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr11:128709604C>T	ENST00000392664.2	-	2	708	c.592G>A	c.(592-594)Gca>Aca	p.A198T	KCNJ1_ENST00000392665.2_Missense_Mutation_p.A179T|KCNJ1_ENST00000440599.2_Missense_Mutation_p.A179T|KCNJ1_ENST00000392666.1_Missense_Mutation_p.A179T|KCNJ1_ENST00000324036.3_Missense_Mutation_p.A179T	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	198			A -> T (in BS2). {ECO:0000269|PubMed:9002665}.		cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.A198T(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	CTGATCACTGCGTTCTTGCTG	0.458																																																1	Substitution - Missense(1)	ovary(1)	11	GRCh37	CM970812	KCNJ1	M	rs104894253						82.0	76.0	78.0					11																	128709604		2199	4291	6490	128214814	SO:0001583	missense	3758			BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.592G>A	11.37:g.128709604C>T	ENSP00000376432:p.Ala198Thr		128214814	B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	CCDS8476.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.502723	0.85176	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664	D;D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63;-3.63	5.71	5.71	0.89125	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98362	0.9456	H	0.95850	3.73	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99104	1.0844	10	0.87932	D	0	.	19.8655	0.96803	0.0:1.0:0.0:0.0	.	198	P48048	IRK1_HUMAN	T	179;179;179;179;198	ENSP00000376433:A179T;ENSP00000376434:A179T;ENSP00000406320:A179T;ENSP00000316233:A179T;ENSP00000376432:A198T	ENSP00000316233:A179T	A	-	1	0	KCNJ1	128214814	1.000000	0.71417	0.344000	0.25628	0.599000	0.36880	7.805000	0.86005	2.690000	0.91761	0.514000	0.50259	GCA		0.458	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220	
ATXN2	6311	broad.mit.edu	37	12	111908043	111908043	+	Splice_Site	SNP	T	T	C			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr12:111908043T>C	ENST00000377617.3	-	20	3346	c.3185A>G	c.(3184-3186)cAt>cGt	p.H1062R	ATXN2_ENST00000550104.1_3'UTR|ATXN2_ENST00000608853.1_Splice_Site_p.H902R|ATXN2_ENST00000535949.1_Splice_Site_p.H773R|ATXN2_ENST00000389153.4_Splice_Site_p.H799R|ATXN2_ENST00000542287.2_Splice_Site_p.H797R	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1062	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.H1062R(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GACATGAGGATGCTGTGTTCA	0.398																																																1	Substitution - Missense(1)	ovary(1)	12											132.0	112.0	119.0					12																	111908043		2203	4300	6503	110392426	SO:0001630	splice_region_variant	6311			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.3184-1A>G	12.37:g.111908043T>C			110392426	A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	ENST00000377617.3	37	CCDS31902.1	.	.	.	.	.	.	.	.	.	.	T	12.76	2.036070	0.35893	.	.	ENSG00000204842	ENST00000389154;ENST00000389153;ENST00000377617;ENST00000482777;ENST00000542287;ENST00000535949	T	0.64260	-0.09	5.46	4.29	0.51040	.	0.219434	0.47852	D	0.000212	T	0.47192	0.1432	N	0.22421	0.69	0.80722	D	1	B;B;P;B;P	0.47302	0.118;0.167;0.791;0.209;0.893	B;B;B;B;B	0.42653	0.179;0.062;0.263;0.124;0.394	T	0.30707	-0.9969	10	0.15952	T	0.53	-6.8995	12.967	0.58490	0.0:0.0:0.1349:0.8651	.	81;1062;773;797;799	Q99700-3;Q99700;Q24JQ7;F8VQP2;F8WB06	.;ATX2_HUMAN;.;.;.	R	117;799;1062;81;797;773	ENSP00000366843:H1062R	ENSP00000366843:H1062R	H	-	2	0	ATXN2	110392426	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.903000	0.39858	0.974000	0.38366	0.477000	0.44152	CAT		0.398	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257351.3	NM_002973	Missense_Mutation
CREBBP	1387	broad.mit.edu	37	16	3788596	3788596	+	Missense_Mutation	SNP	A	A	G			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr16:3788596A>G	ENST00000262367.5	-	26	5167	c.4358T>C	c.(4357-4359)aTc>aCc	p.I1453T	CREBBP_ENST00000382070.3_Missense_Mutation_p.I1415T	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1453	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.|Cys/His-rich.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|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)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.I1453T(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCCAATAAGGATCTCATGGTA	0.383			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	1	Substitution - Missense(1)	ovary(1)	16											75.0	70.0	72.0					16																	3788596		2197	4300	6497	3728597	SO:0001583	missense	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.4358T>C	16.37:g.3788596A>G	ENSP00000262367:p.Ile1453Thr		3728597	D3DUC9|O00147|Q16376|Q4LE28	Missense_Mutation	SNP	ENST00000262367.5	37	CCDS10509.1	.	.	.	.	.	.	.	.	.	.	a	19.34	3.809700	0.70797	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070;ENST00000323508	D;D	0.93426	-3.22;-3.22	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	D	0.97343	0.9131	M	0.91406	3.205	0.80722	D	1	D;D	0.89917	1.0;0.996	D;D	0.91635	0.999;0.996	D	0.98290	1.0513	10	0.87932	D	0	-22.8561	15.8518	0.78937	1.0:0.0:0.0:0.0	.	1483;1453	Q4LE28;Q92793	.;CBP_HUMAN	T	1453;1483;1415;42	ENSP00000262367:I1453T;ENSP00000371502:I1415T	ENSP00000262367:I1453T	I	-	2	0	CREBBP	3728597	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.287000	0.95975	2.215000	0.71742	0.459000	0.35465	ATC		0.383	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380	
CHD9	80205	broad.mit.edu	37	16	53301839	53301839	+	Splice_Site	SNP	G	G	T			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr16:53301839G>T	ENST00000398510.3	+	21	4605	c.4518G>T	c.(4516-4518)ggG>ggT	p.G1506G	CHD9_ENST00000447540.1_Splice_Site_p.G1506G|CHD9_ENST00000564845.1_Splice_Site_p.G1506G|CHD9_ENST00000566029.1_Splice_Site_p.G1506G			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1506					cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.G1506G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTTTAACCAGGTGGGGCCGAT	0.353																																																1	Substitution - coding silent(1)	ovary(1)	16											76.0	70.0	72.0					16																	53301839		1812	4068	5880	51859340	SO:0001630	splice_region_variant	80205			AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.4518-1G>T	16.37:g.53301839G>T			51859340	B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Silent	SNP	ENST00000398510.3	37																																																																																					0.353	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	Silent
ADAT1	23536	broad.mit.edu	37	16	75651145	75651145	+	Missense_Mutation	SNP	C	C	A			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr16:75651145C>A	ENST00000307921.3	-	6	464	c.319G>T	c.(319-321)Gca>Tca	p.A107S		NM_012091.3	NP_036223.2	Q9BUB4	ADAT1_HUMAN	adenosine deaminase, tRNA-specific 1	107	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|RNA binding (GO:0003723)|tRNA-specific adenosine deaminase activity (GO:0008251)	p.A107S(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)	19						AGGGTGGCTGCCAACTGGAGT	0.463																																																1	Substitution - Missense(1)	ovary(1)	16											165.0	165.0	165.0					16																	75651145		2198	4300	6498	74208646	SO:0001583	missense	23536			AF125188	CCDS10922.1	16q23	2008-02-05			ENSG00000065457	ENSG00000065457			228	protein-coding gene	gene with protein product		604230				10430867	Standard	NM_012091		Approved		uc002feo.2	Q9BUB4	OTTHUMG00000137611	ENST00000307921.3:c.319G>T	16.37:g.75651145C>A	ENSP00000310015:p.Ala107Ser		74208646	Q9NVB7|Q9UNG3	Missense_Mutation	SNP	ENST00000307921.3	37	CCDS10922.1	.	.	.	.	.	.	.	.	.	.	C	9.196	1.027376	0.19512	.	.	ENSG00000065457	ENST00000307921;ENST00000542252	D	0.93953	-3.32	5.59	5.59	0.84812	Adenosine deaminase/editase (3);	0.052499	0.85682	D	0.000000	D	0.92024	0.7473	L	0.51914	1.62	0.58432	D	0.999994	P	0.36110	0.537	B	0.40602	0.334	D	0.89862	0.4017	10	0.22109	T	0.4	-4.5656	18.1617	0.89710	0.0:1.0:0.0:0.0	.	107	Q9BUB4	ADAT1_HUMAN	S	107;78	ENSP00000310015:A107S	ENSP00000310015:A107S	A	-	1	0	ADAT1	74208646	1.000000	0.71417	0.923000	0.36655	0.402000	0.30811	4.977000	0.63792	2.646000	0.89796	0.411000	0.27672	GCA		0.463	ADAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269027.1	NM_012091	
TP53	7157	broad.mit.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr17:7578265A>G	ENST00000269305.4	-	6	773	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000455263.2_Missense_Mutation_p.I195T|TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000420246.2_Missense_Mutation_p.I195T|TP53_ENST00000445888.2_Missense_Mutation_p.I195T	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	195	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:9450901}.|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(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)	TTCCACTCGGATAAGATGCTG	0.552		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"""	134	Substitution - Missense(99)|Whole gene deletion(8)|Insertion - Frameshift(7)|Deletion - In frame(6)|Complex - deletion inframe(6)|Unknown(5)|Deletion - Frameshift(2)|Complex - frameshift(1)	ovary(37)|breast(21)|large_intestine(18)|lung(10)|central_nervous_system(8)|biliary_tract(6)|haematopoietic_and_lymphoid_tissue(5)|skin(5)|stomach(4)|oesophagus(4)|bone(4)|endometrium(3)|urinary_tract(3)|upper_aerodigestive_tract(2)|liver(2)|pancreas(2)	17											100.0	89.0	93.0					17																	7578265		2203	4300	6503	7518990	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.584T>C	17.37:g.7578265A>G	ENSP00000269305:p.Ile195Thr		7518990	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	.	.	.	.	.	.	.	.	.	.	A	13.73	2.324656	0.41197	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99823	-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95;-6.95	5.41	3.21	0.36854	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.103171	0.64402	N	0.000004	D	0.99785	0.9910	M	0.90019	3.08	0.52099	D	0.999943	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.991;0.989;0.998;0.997;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.995;0.953;0.979;0.995;0.993;0.996	D	0.98429	1.0581	10	0.87932	D	0	-18.4587	8.2743	0.31864	0.8356:0.0:0.1644:0.0	.	156;195;195;102;195;195;195	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	T	195;195;195;195;195;195;184;102;63;102;63	ENSP00000410739:I195T;ENSP00000352610:I195T;ENSP00000269305:I195T;ENSP00000398846:I195T;ENSP00000391127:I195T;ENSP00000391478:I195T;ENSP00000425104:I63T;ENSP00000423862:I102T	ENSP00000269305:I195T	I	-	2	0	TP53	7518990	1.000000	0.71417	0.946000	0.38457	0.026000	0.11368	9.287000	0.95975	0.456000	0.26937	-0.256000	0.11100	ATC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
DLGAP1	9229	broad.mit.edu	37	18	3879897	3879897	+	Missense_Mutation	SNP	C	C	T			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr18:3879897C>T	ENST00000315677.3	-	4	767	c.172G>A	c.(172-174)Gtg>Atg	p.V58M	DLGAP1_ENST00000581527.1_Missense_Mutation_p.V58M|DLGAP1_ENST00000515196.2_Missense_Mutation_p.V58M|DLGAP1_ENST00000584874.1_Missense_Mutation_p.V58M|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	58					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)		p.V58M(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				AAGGGGCCCACGCACTCAGCC	0.672																																																1	Substitution - Missense(1)	ovary(1)	18											52.0	53.0	53.0					18																	3879897		2203	4300	6503	3869897	SO:0001583	missense	9229			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.172G>A	18.37:g.3879897C>T	ENSP00000316377:p.Val58Met		3869897	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	ENST00000315677.3	37	CCDS11836.1	.	.	.	.	.	.	.	.	.	.	C	9.017	0.983953	0.18889	.	.	ENSG00000170579	ENST00000315677;ENST00000515196	T;T	0.11063	2.81;2.81	5.8	5.8	0.92144	.	0.354251	0.26995	N	0.021452	T	0.04770	0.0129	N	0.04959	-0.14	0.29526	N	0.853106	B;B;B	0.12013	0.001;0.004;0.005	B;B;B	0.12156	0.002;0.006;0.007	T	0.34551	-0.9824	10	0.14656	T	0.56	-9.3751	7.6051	0.28097	0.0:0.8067:0.0:0.1933	.	58;58;58	B7Z9Y4;Q6IS01;O14490	.;.;DLGP1_HUMAN	M	58	ENSP00000316377:V58M;ENSP00000445973:V58M	ENSP00000316377:V58M	V	-	1	0	DLGAP1	3869897	1.000000	0.71417	0.993000	0.49108	0.941000	0.58515	1.823000	0.39062	2.744000	0.94065	0.655000	0.94253	GTG		0.672	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4		
GALNT13	114805	broad.mit.edu	37	2	155306936	155306936	+	Missense_Mutation	SNP	G	G	A			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr2:155306936G>A	ENST00000392825.3	+	13	2111	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	AC009227.2_ENST00000434635.1_RNA|GALNT13_ENST00000409237.1_3'UTR	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	515	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R515Q(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CTCACGTTGCGACATGTTAAC	0.403																																																1	Substitution - Missense(1)	ovary(1)	2											116.0	101.0	106.0					2																	155306936		2203	4300	6503	155015182	SO:0001583	missense	114805			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.1544G>A	2.37:g.155306936G>A	ENSP00000376570:p.Arg515Gln		155015182	Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	12.14	1.848226	0.32699	.	.	ENSG00000144278	ENST00000392825	T	0.77489	-1.1	6.03	4.25	0.50352	Ricin B-related lectin (1);Ricin B lectin (3);	0.107611	0.64402	D	0.000006	T	0.64843	0.2635	L	0.39147	1.195	0.80722	D	1	B	0.15930	0.015	B	0.13407	0.009	T	0.55642	-0.8109	10	0.24483	T	0.36	.	5.8406	0.18630	0.158:0.0:0.6873:0.1547	.	515	Q8IUC8	GLT13_HUMAN	Q	515	ENSP00000376570:R515Q	ENSP00000376570:R515Q	R	+	2	0	GALNT13	155015182	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.342000	0.59341	0.901000	0.36495	0.650000	0.86243	CGA		0.403	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917	
PAX3	5077	broad.mit.edu	37	2	223160323	223160323	+	Missense_Mutation	SNP	G	G	C			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr2:223160323G>C	ENST00000350526.4	-	3	511	c.375C>G	c.(373-375)aaC>aaG	p.N125K	PAX3_ENST00000258387.5_Missense_Mutation_p.N125K|PAX3_ENST00000392069.2_Missense_Mutation_p.N125K|PAX3_ENST00000409551.3_Missense_Mutation_p.N124K|PAX3_ENST00000344493.4_Missense_Mutation_p.N125K|PAX3_ENST00000392070.2_Missense_Mutation_p.N125K|PAX3_ENST00000336840.6_Missense_Mutation_p.N125K|CCDC140_ENST00000295226.1_5'Flank|PAX3_ENST00000409828.3_Missense_Mutation_p.N125K	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	125	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.N125K(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACATGCCCGGGTTCTCTCTTT	0.542			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																																Dom	yes		2	2q35	5077	paired box gene 3	yes	M	1	Substitution - Missense(1)	ovary(1)	2											136.0	127.0	130.0					2																	223160323		2203	4300	6503	222868567	SO:0001583	missense	5077				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.375C>G	2.37:g.223160323G>C	ENSP00000343052:p.Asn125Lys		222868567	G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	G	16.95	3.264550	0.59431	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551;ENST00000409828;ENST00000258387	D;D;D;D;D;D;D;D	0.99388	-5.81;-5.81;-5.81;-5.81;-5.81;-5.81;-5.81;-5.81	5.71	4.73	0.59995	Paired box protein, N-terminal (3);Winged helix-turn-helix transcription repressor DNA-binding (1);Homeodomain-like (1);	0.124234	0.64402	D	0.000001	D	0.99315	0.9760	M	0.89163	3.01	0.58432	D	0.999995	P;D;D;P;P;D;P	0.60575	0.926;0.988;0.961;0.617;0.81;0.98;0.696	P;P;P;B;B;P;B	0.60609	0.825;0.877;0.491;0.25;0.16;0.768;0.115	D	0.98505	1.0616	10	0.87932	D	0	.	12.9266	0.58264	0.1087:0.0:0.8913:0.0	.	125;125;125;124;125;125;125	P23760;P23760-2;P23760-3;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.;.;.	K	125;125;125;125;125;124;125;125	ENSP00000375921:N125K;ENSP00000342092:N125K;ENSP00000343052:N125K;ENSP00000375922:N125K;ENSP00000338767:N125K;ENSP00000386750:N124K;ENSP00000386817:N125K;ENSP00000258387:N125K	ENSP00000258387:N125K	N	-	3	2	PAX3	222868567	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.080000	0.41586	2.694000	0.91930	0.655000	0.94253	AAC		0.542	PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1		
NINL	22981	broad.mit.edu	37	20	25498416	25498416	+	Missense_Mutation	SNP	C	C	T			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr20:25498416C>T	ENST00000278886.6	-	3	323	c.250G>A	c.(250-252)Gat>Aat	p.D84N	NINL_ENST00000422516.1_Missense_Mutation_p.D84N	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	84					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)	p.D84N(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTGTCTTCATCTGAGGGGCGA	0.378																																																1	Substitution - Missense(1)	ovary(1)	20											134.0	115.0	121.0					20																	25498416		2203	4300	6503	25446416	SO:0001583	missense	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.250G>A	20.37:g.25498416C>T	ENSP00000278886:p.Asp84Asn		25446416	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Missense_Mutation	SNP	ENST00000278886.6	37	CCDS33452.1	.	.	.	.	.	.	.	.	.	.	C	15.47	2.841809	0.51057	.	.	ENSG00000101004	ENST00000278886;ENST00000422516	T;T	0.26373	1.74;1.74	4.39	3.44	0.39384	.	0.137412	0.48286	D	0.000194	T	0.30479	0.0766	L	0.31664	0.95	0.31637	N	0.648273	D;D	0.56287	0.975;0.965	P;P	0.56343	0.796;0.521	T	0.30357	-0.9981	10	0.62326	D	0.03	-12.553	11.1231	0.48302	0.0:0.9074:0.0:0.0926	.	84;84	Q9Y2I6-2;Q9Y2I6	.;NINL_HUMAN	N	84	ENSP00000278886:D84N;ENSP00000410431:D84N	ENSP00000278886:D84N	D	-	1	0	NINL	25446416	0.982000	0.34865	0.037000	0.18230	0.193000	0.23685	2.688000	0.46984	1.051000	0.40369	0.561000	0.74099	GAT		0.378	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078445.3	NM_025176	
FAM65C	140876	broad.mit.edu	37	20	49236588	49236588	+	Silent	SNP	C	C	T	rs113703688		TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr20:49236588C>T	ENST00000327979.2	-	3	603	c.192G>A	c.(190-192)tcG>tcA	p.S64S	FAM65C_ENST00000535356.1_Silent_p.S68S|FAM65C_ENST00000045083.2_Silent_p.S64S			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	64								p.S64S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTGCACAGACCGACCCCTTCC	0.542													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19933	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	20						C		1,4405	2.1+/-5.4	0,1,2202	100.0	90.0	94.0		192	-6.1	0.0	20	dbSNP_132	94	0,8600		0,0,4300	no	coding-synonymous	FAM65C	NM_080829.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		64/947	49236588	1,13005	2203	4300	6503	48669995	SO:0001819	synonymous_variant	140876			AL133230	CCDS13431.2	20q13.13	2011-11-24	2008-06-13	2008-06-13	ENSG00000042062	ENSG00000042062			16168	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 175"", ""chromosome 20 open reading frame 176"""	C20orf175, C20orf176			Standard	XM_005260294		Approved	dJ530I15.2, dJ530I15.3	uc002xvm.3	Q96MK2	OTTHUMG00000032724	ENST00000327979.2:c.192G>A	20.37:g.49236588C>T			48669995	Q5QPB6|Q9NQQ2	Silent	SNP	ENST00000327979.2	37	CCDS13431.2																																																																																				0.542	FAM65C-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257962.1		
ITSN1	6453	broad.mit.edu	37	21	35091159	35091159	+	Missense_Mutation	SNP	G	G	C			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr21:35091159G>C	ENST00000381318.3	+	2	314	c.26G>C	c.(25-27)gGt>gCt	p.G9A	ITSN1_ENST00000399349.1_Missense_Mutation_p.G9A|ITSN1_ENST00000437442.2_Missense_Mutation_p.G9A|ITSN1_ENST00000399326.3_Missense_Mutation_p.G9A|ITSN1_ENST00000399338.4_Missense_Mutation_p.G9A|ITSN1_ENST00000399352.1_Missense_Mutation_p.G9A|ITSN1_ENST00000381285.4_Missense_Mutation_p.G9A|ITSN1_ENST00000399355.2_Missense_Mutation_p.G9A|ITSN1_ENST00000399367.3_Missense_Mutation_p.G9A|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381291.4_Missense_Mutation_p.G9A|ITSN1_ENST00000379960.5_Missense_Mutation_p.G9A|ITSN1_ENST00000399353.1_Missense_Mutation_p.G9A	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	9					apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.G9A(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ACACCTTTTGGTGGTAAGTTT	0.294																																																1	Substitution - Missense(1)	ovary(1)	21											128.0	120.0	123.0					21																	35091159		2203	4300	6503	34013029	SO:0001583	missense	6453			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.26G>C	21.37:g.35091159G>C	ENSP00000370719:p.Gly9Ala		34013029	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	CCDS33545.1	.	.	.	.	.	.	.	.	.	.	G	15.36	2.809904	0.50421	.	.	ENSG00000205726	ENST00000399353;ENST00000444491;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000451686;ENST00000381283;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.32272	1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.58;1.46;1.58;1.58;1.58;1.58;1.58	5.31	5.31	0.75309	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.26702	0.0653	L	0.43152	1.355	0.48830	D	0.999715	B;B;B;B;B;B;B;B;B	0.25521	0.003;0.001;0.001;0.001;0.128;0.001;0.001;0.002;0.001	B;B;B;B;B;B;B;B;B	0.14578	0.001;0.001;0.001;0.001;0.011;0.001;0.001;0.001;0.001	T	0.03000	-1.1084	10	0.36615	T	0.2	.	14.0923	0.65000	0.0:0.1518:0.8482:0.0	.	9;9;9;9;9;9;9;9;9	A8D7D0;A7XZY7;A8CTY7;A8CTY3;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;ITSN1_HUMAN;.;.	A	9	ENSP00000382290:G9A;ENSP00000400079:G9A;ENSP00000370719:G9A;ENSP00000370691:G9A;ENSP00000370685:G9A;ENSP00000382301:G9A;ENSP00000382289:G9A;ENSP00000382292:G9A;ENSP00000382286:G9A;ENSP00000407132:G9A;ENSP00000370683:G9A;ENSP00000382275:G9A;ENSP00000387377:G9A;ENSP00000382265:G9A;ENSP00000369294:G9A	ENSP00000369294:G9A	G	+	2	0	ITSN1	34013029	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.498000	0.66931	2.504000	0.84457	0.563000	0.77884	GGT		0.294	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024	
CLTCL1	8218	broad.mit.edu	37	22	19183895	19183895	+	Nonsense_Mutation	SNP	C	C	T			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr22:19183895C>T	ENST00000263200.10	-	26	4145	c.4073G>A	c.(4072-4074)tGg>tAg	p.W1358*	CLTCL1_ENST00000442042.2_5'UTR|CLTCL1_ENST00000353891.5_Nonsense_Mutation_p.W1358*|CLTCL1_ENST00000427926.1_Nonsense_Mutation_p.W1358*	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1358	Heavy chain arm.|Involved in binding clathrin light chain. {ECO:0000250}.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)	p.W1358*(1)		breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					CAGCTCAGCCCACAGGTGTGC	0.597			T	?	ALCL																																		Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	1	Substitution - Nonsense(1)	ovary(1)	22											95.0	97.0	96.0					22																	19183895		2179	4272	6451	17563895	SO:0001587	stop_gained	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.4073G>A	22.37:g.19183895C>T	ENSP00000445677:p.Trp1358*		17563895	B7Z7U5|Q14017|Q15808|Q15809	Nonsense_Mutation	SNP	ENST00000263200.10	37	CCDS46662.1	.	.	.	.	.	.	.	.	.	.	C	43	10.269140	0.99372	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	.	.	.	3.57	3.57	0.40892	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4124	15.336	0.74255	0.0:1.0:0.0:0.0	.	.	.	.	X	1358	.	ENSP00000445677:W1358X	W	-	2	0	CLTCL1	17563895	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	6.944000	0.75940	1.829000	0.53265	0.491000	0.48974	TGG		0.597	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316397.5	NM_007098	
ZFP42	132625	broad.mit.edu	37	4	188924260	188924260	+	Missense_Mutation	SNP	A	A	C			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr4:188924260A>C	ENST00000326866.4	+	4	707	c.299A>C	c.(298-300)aAa>aCa	p.K100T	ZFP42_ENST00000509524.1_Missense_Mutation_p.K100T	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	100					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K100T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TACCTAAAGAAAGGATCAGAA	0.403																																																1	Substitution - Missense(1)	ovary(1)	4											81.0	85.0	83.0					4																	188924260		2203	4300	6503	189161254	SO:0001583	missense	132625			AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.299A>C	4.37:g.188924260A>C	ENSP00000317686:p.Lys100Thr		189161254	D3DP65|Q8WXE2	Missense_Mutation	SNP	ENST00000326866.4	37	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	A	10.33	1.320911	0.23994	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	T;T	0.63580	-0.05;-0.05	4.11	2.93	0.34026	.	0.164149	0.38005	U	0.001850	T	0.43919	0.1269	L	0.36672	1.1	0.09310	N	1	B	0.33694	0.421	B	0.29785	0.107	T	0.21415	-1.0246	10	0.29301	T	0.29	.	5.6476	0.17598	0.788:0.0:0.212:0.0	.	100	Q96MM3	ZFP42_HUMAN	T	100	ENSP00000317686:K100T;ENSP00000424662:K100T	ENSP00000317686:K100T	K	+	2	0	ZFP42	189161254	0.003000	0.15002	0.002000	0.10522	0.004000	0.04260	1.805000	0.38883	0.919000	0.36945	0.533000	0.62120	AAA		0.403	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900	
STK38	11329	broad.mit.edu	37	6	36466139	36466139	+	Splice_Site	SNP	C	C	T			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr6:36466139C>T	ENST00000229812.7	-	11	1362		c.e11+1			NM_007271.2	NP_009202.1			serine/threonine kinase 38									p.?(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTCTCTAATACCTCAAAATTA	0.363																																					Colon(180;997 3561 16158)											1	Unknown(1)	ovary(1)	6											122.0	125.0	124.0					6																	36466139		2203	4300	6503	36574117	SO:0001630	splice_region_variant	11329				CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.1076+1G>A	6.37:g.36466139C>T			36574117		Splice_Site	SNP	ENST00000229812.7	37	CCDS4822.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455271	0.84209	.	.	ENSG00000112079	ENST00000229812	.	.	.	5.91	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0464	0.71830	0.0:0.9321:0.0:0.0679	.	.	.	.	.	-1	.	.	.	-	.	.	STK38	36574117	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.814000	0.86154	1.517000	0.48917	0.650000	0.86243	.		0.363	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040346.1	NM_007271	Intron
MAS1	4142	broad.mit.edu	37	6	160328045	160328045	+	Missense_Mutation	SNP	G	G	T			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr6:160328045G>T	ENST00000252660.4	+	1	72	c.58G>T	c.(58-60)Ggc>Tgc	p.G20C		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 proto-oncogene, G protein-coupled receptor	20					activation of NF-kappaB-inducing kinase activity (GO:0007250)|anatomical structure morphogenesis (GO:0009653)|cell proliferation (GO:0008283)|cellular response to peptide hormone stimulus (GO:0071375)|G-protein coupled receptor signaling pathway (GO:0007186)|hippocampus development (GO:0021766)|male gonad development (GO:0008584)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|protein kinase C signaling (GO:0070528)|regulation of inflammatory response (GO:0050727)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin receptor activity (GO:0001595)|angiotensin type II receptor activity (GO:0004945)|G-protein coupled receptor activity (GO:0004930)|peptide binding (GO:0042277)|peptide hormone binding (GO:0017046)	p.G20C(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		CATCTCAACTGGCAGGAACGC	0.493																																																1	Substitution - Missense(1)	ovary(1)	6											124.0	116.0	119.0					6																	160328045		2203	4300	6503	160248035	SO:0001583	missense	4142			M13150	CCDS5272.1	6q24-q27	2014-06-26	2014-06-26		ENSG00000130368	ENSG00000130368		"""GPCR / Class A : Orphans"""	6899	protein-coding gene	gene with protein product		165180	"""MAS1 oncogene"""				Standard	NM_002377		Approved		uc003qsz.3	P04201	OTTHUMG00000015944	ENST00000252660.4:c.58G>T	6.37:g.160328045G>T	ENSP00000252660:p.Gly20Cys		160248035	E1P5B3|Q2TBC9|Q6FG47	Missense_Mutation	SNP	ENST00000252660.4	37	CCDS5272.1	.	.	.	.	.	.	.	.	.	.	G	10.39	1.335915	0.24253	.	.	ENSG00000130368	ENST00000252660	T	0.20332	2.08	5.23	-10.5	0.00291	.	1.634530	0.03684	N	0.246010	T	0.02304	0.0071	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.30297	-0.9983	10	0.54805	T	0.06	.	6.2277	0.20718	0.1219:0.2818:0.5153:0.081	.	20	P04201	MAS_HUMAN	C	20	ENSP00000252660:G20C	ENSP00000252660:G20C	G	+	1	0	MAS1	160248035	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.567000	0.02146	-2.572000	0.00467	-1.799000	0.00621	GGC		0.493	MAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042930.2	NM_002377	
RBM48	84060	broad.mit.edu	37	7	92164260	92164260	+	Silent	SNP	T	T	C			TCGA-31-1950-01A-01W-0699-08	TCGA-31-1950-10A-01W-0699-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	633da579-9dcd-49a1-bff1-fd1362c66851	dadd71d0-84e0-4212-852f-3fc2bfcd6895	g.chr7:92164260T>C	ENST00000265732.5	+	4	1034	c.993T>C	c.(991-993)aaT>aaC	p.N331N	RBM48_ENST00000481551.1_Silent_p.N331N	NM_032120.2	NP_115496.2	Q5RL73	RBM48_HUMAN	RNA binding motif protein 48	331						nucleus (GO:0005634)	RNA binding (GO:0003723)	p.N331N(1)									CAACGGCGAATTTAATTCGGC	0.338																																																1	Substitution - coding silent(1)	ovary(1)	7											43.0	42.0	42.0					7																	92164260		1824	4079	5903	92002196	SO:0001819	synonymous_variant	84060			AL136619	CCDS43615.1	7q21.2	2013-02-12	2011-12-09	2011-12-09	ENSG00000127993	ENSG00000127993		"""RNA binding motif (RRM) containing"""	21785	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 64"""	C7orf64			Standard	NM_032120		Approved	DKFZp564O0523, HSPC304	uc003ulz.3	Q5RL73	OTTHUMG00000159535	ENST00000265732.5:c.993T>C	7.37:g.92164260T>C			92002196	B7Z2K5|B7ZL51|Q5H9T2|Q8IYW7|Q96NS0|Q9H0V7	Silent	SNP	ENST00000265732.5	37	CCDS43615.1																																																																																				0.338	RBM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356076.1	NM_032120	
