#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
REL	5966	broad.mit.edu	37	2	61149057	61149057	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:61149057C>T	ENST00000295025.8	+	11	1567	c.1247C>T	c.(1246-1248)gCc>gTc	p.A416V	REL_ENST00000394479.3_Missense_Mutation_p.A384V	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog	416					cytokine production (GO:0001816)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of neuron death (GO:1901215)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			TCATCAGTGGCCCACCCCACC	0.502			A		Hodgkin Lymphoma																																	ENST00000295025.7				Dom	yes		2	2p13-p12	5966	A	v-rel reticuloendotheliosis viral oncogene homolog (avian)			L			Hodgkin Lymphoma		0				breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(1246-1248)gCc>gTc		v-rel avian reticuloendotheliosis viral oncogene homolog							101.0	95.0	97.0					2																	61149057		2203	4300	6503	SO:0001583	missense	5966				positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr2:61149057C>T	M11595	CCDS1864.1, CCDS74515.1	2p13-p12	2013-07-09	2013-07-09		ENSG00000162924	ENSG00000162924			9954	protein-coding gene	gene with protein product		164910				1577270	Standard	XM_005264470		Approved	I-Rel, c-Rel	uc002sam.1	Q04864	OTTHUMG00000129418	ENST00000295025.8:c.1247C>T	2.37:g.61149057C>T	ENSP00000295025:p.Ala416Val					REL_ENST00000394479.3_Missense_Mutation_p.A384V	p.A416V	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)		11	1567	+	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	416					Q17RU2|Q2PNZ7|Q6LDY0	Missense_Mutation	SNP	ENST00000295025.8	37	c.1247C>T	CCDS1864.1	.	.	.	.	.	.	.	.	.	.	C	6.447	0.450642	0.12223	.	.	ENSG00000162924	ENST00000295025;ENST00000394479	T;T	0.43294	0.95;0.95	5.01	5.01	0.66863	.	0.784404	0.11498	N	0.558006	T	0.28896	0.0717	N	0.24115	0.695	0.09310	N	1	B;B	0.20887	0.049;0.006	B;B	0.22386	0.039;0.014	T	0.12553	-1.0543	10	0.18710	T	0.47	-47.3276	9.883	0.41245	0.0:0.9053:0.0:0.0947	.	384;416	Q17RU2;Q04864	.;REL_HUMAN	V	416;384	ENSP00000295025:A416V;ENSP00000377989:A384V	ENSP00000295025:A416V	A	+	2	0	REL	61002561	0.000000	0.05858	0.006000	0.13384	0.030000	0.12068	0.598000	0.24074	2.479000	0.83701	0.585000	0.79938	GCC		0.502	REL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251576.3	NM_002908		10	79	0	0	0	0.001368	0	10	79				
CACNA1I	8911	broad.mit.edu	37	22	40055726	40055726	+	Missense_Mutation	SNP	G	G	A	rs199827082		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr22:40055726G>A	ENST00000402142.3	+	14	2473	c.2473G>A	c.(2473-2475)Gtc>Atc	p.V825I	CACNA1I_ENST00000336649.4_Missense_Mutation_p.V831I|CACNA1I_ENST00000407673.1_Missense_Mutation_p.V790I|CACNA1I_ENST00000401624.1_Missense_Mutation_p.V825I|CACNA1I_ENST00000400164.3_Missense_Mutation_p.V790I|CACNA1I_ENST00000404898.1_Missense_Mutation_p.V790I	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	825					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GGACTGGAACGTCGTTCTCTA	0.572																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(2491-2493)Gtc>Atc		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	G	ILE/VAL,ILE/VAL	0,4154		0,0,2077	139.0	142.0	141.0		2368,2473	2.4	1.0	22		141	2,8380		0,2,4189	yes	missense,missense	CACNA1I	NM_001003406.1,NM_021096.3	29,29	0,2,6266	AA,AG,GG		0.0239,0.0,0.016	benign,benign	790/2189,825/2224	40055726	2,12534	2077	4191	6268	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40055726G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.2473G>A	22.37:g.40055726G>A	ENSP00000385019:p.Val825Ile					CACNA1I_ENST00000407673.1_Missense_Mutation_p.V790I|CACNA1I_ENST00000402142.3_Missense_Mutation_p.V825I|CACNA1I_ENST00000404898.1_Missense_Mutation_p.V790I|CACNA1I_ENST00000400164.3_Missense_Mutation_p.V790I|CACNA1I_ENST00000401624.1_Missense_Mutation_p.V825I	p.V831I			Q9P0X4	CAC1I_HUMAN			17	2491	+	Melanoma(58;0.0749)		825					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.2491G>A	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.562026	0.45590	0.0	2.39E-4	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.97378	-4.36;-4.36;-4.36;-4.36;-4.36;-4.36	4.67	2.43	0.29744	Ion transport (1);	0.266978	0.37623	N	0.002004	D	0.93318	0.7870	L	0.42686	1.345	0.33981	D	0.648016	P;P;P;P	0.48589	0.827;0.854;0.912;0.909	B;B;B;B	0.41135	0.169;0.239;0.239;0.348	D	0.93069	0.6481	10	0.26408	T	0.33	.	10.1303	0.42674	0.08:0.1405:0.7796:0.0	.	790;825;790;825	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	I	825;790;825;790;831;790	ENSP00000385019:V825I;ENSP00000384093:V790I;ENSP00000383887:V825I;ENSP00000385680:V790I;ENSP00000337829:V831I;ENSP00000383028:V790I	ENSP00000337829:V831I	V	+	1	0	CACNA1I	38385672	0.996000	0.38824	1.000000	0.80357	0.935000	0.57460	2.193000	0.42658	2.284000	0.76573	0.655000	0.94253	GTC		0.572	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		7	187	0	0	0	0.006214	0	7	187				
KRT33A	3883	broad.mit.edu	37	17	39502881	39502881	+	Missense_Mutation	SNP	G	G	A	rs148488457		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:39502881G>A	ENST00000007735.3	-	6	960	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	306	Coil 2.|Rod.					extracellular space (GO:0005615)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GAGCTGTAGCGGGCCTCGCTC	0.587																																						ENST00000007735.3																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21						c.(916-918)Cgc>Tgc		keratin 33A		G	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	57.0	56.0	56.0		916	4.6	1.0	17	dbSNP_134	56	1,8599	1.2+/-3.3	0,1,4299	no	missense	KRT33A	NM_004138.2	180	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	probably-damaging	306/405	39502881	3,13003	2203	4300	6503	SO:0001583	missense	3883					intermediate filament	protein binding|structural molecule activity	g.chr17:39502881G>A	Y16788	CCDS11388.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000006059	ENSG00000006059		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6450	protein-coding gene	gene with protein product	"""hard keratin type I 3I"""	602761	"""keratin, hair, acidic, 3A"""	KRTHA3A		7565656, 16831889	Standard	NM_004138		Approved	Ha-3I, Krt1-3	uc002hwk.2	O76009	OTTHUMG00000133432	ENST00000007735.3:c.916C>T	17.37:g.39502881G>A	ENSP00000007735:p.Arg306Cys						p.R306C	NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN			6	960	-		Breast(137;0.000496)	306			Coil 2.|Rod.		B2RA87|Q6NTB9|Q6ZZB9	Missense_Mutation	SNP	ENST00000007735.3	37	c.916C>T	CCDS11388.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.714147	0.89112	4.54E-4	1.16E-4	ENSG00000006059	ENST00000007735	D	0.90563	-2.69	4.55	4.55	0.56014	Filament (1);	0.000000	0.64402	D	0.000003	D	0.96103	0.8730	M	0.91354	3.2	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.97001	0.9729	10	0.87932	D	0	.	16.8343	0.85953	0.0:0.0:1.0:0.0	.	306	O76009	KT33A_HUMAN	C	306	ENSP00000007735:R306C	ENSP00000007735:R306C	R	-	1	0	KRT33A	36756407	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.375000	0.66173	2.501000	0.84356	0.655000	0.94253	CGC		0.587	KRT33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257295.1	NM_004138		6	83	0	0	0	0.001984	0	6	83				
AGPAT3	56894	broad.mit.edu	37	21	45379705	45379705	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr21:45379705G>A	ENST00000398063.2	+	2	635	c.143G>A	c.(142-144)cGc>cAc	p.R48H	AGPAT3_ENST00000291572.8_Missense_Mutation_p.R48H|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Missense_Mutation_p.R48H|AGPAT3_ENST00000327505.2_Missense_Mutation_p.R48H|AGPAT3_ENST00000398061.1_Missense_Mutation_p.R48H|AGPAT3_ENST00000546158.1_Missense_Mutation_p.R48H	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	48					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CTCTACCGCCGCCTCAACTGC	0.667																																					Pancreas(60;623 1650 5574 52796)	ENST00000398063.2																			0				large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11						c.(142-144)cGc>cAc		1-acylglycerol-3-phosphate O-acyltransferase 3							41.0	31.0	35.0					21																	45379705		2203	4300	6503	SO:0001583	missense	56894				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr21:45379705G>A	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.143G>A	21.37:g.45379705G>A	ENSP00000381140:p.Arg48His					AGPAT3_ENST00000398061.1_Missense_Mutation_p.R48H|AGPAT3_ENST00000546158.1_Missense_Mutation_p.R48H|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000291572.8_Missense_Mutation_p.R48H|AGPAT3_ENST00000327505.2_Missense_Mutation_p.R48H|AGPAT3_ENST00000398058.1_Missense_Mutation_p.R48H	p.R48H	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	2	635	+			48					D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Missense_Mutation	SNP	ENST00000398063.2	37	c.143G>A	CCDS13703.1	.	.	.	.	.	.	.	.	.	.	G	17.85	3.491112	0.64074	.	.	ENSG00000160216	ENST00000291572;ENST00000448287;ENST00000398061;ENST00000327505;ENST00000445582;ENST00000398063;ENST00000438598;ENST00000398058;ENST00000457068;ENST00000422850;ENST00000546158	T;T;T;T;T;T;T;T	0.47177	1.41;1.41;1.41;1.41;1.41;0.85;0.85;1.41	4.4	3.5	0.40072	.	0.479193	0.19678	N	0.108575	T	0.47229	0.1434	M	0.68593	2.085	0.43583	D	0.995922	B	0.27316	0.175	B	0.28139	0.086	T	0.55805	-0.8083	10	0.72032	D	0.01	-12.5677	12.5545	0.56246	0.0835:0.0:0.9165:0.0	.	48	Q9NRZ7	PLCC_HUMAN	H	48	ENSP00000291572:R48H;ENSP00000381138:R48H;ENSP00000332989:R48H;ENSP00000381140:R48H;ENSP00000381135:R48H;ENSP00000413906:R48H;ENSP00000414440:R48H;ENSP00000443510:R48H	ENSP00000291572:R48H	R	+	2	0	AGPAT3	44204133	1.000000	0.71417	0.918000	0.36340	0.954000	0.61252	3.588000	0.53964	2.003000	0.58678	0.454000	0.30748	CGC		0.667	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132		5	34	0	0	0	0.000602	0	5	34				
DLGAP4	22839	broad.mit.edu	37	20	35152721	35152721	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr20:35152721C>T	ENST00000373907.2	+	10	2780	c.2581C>T	c.(2581-2583)Cgg>Tgg	p.R861W	DLGAP4_ENST00000339266.5_Missense_Mutation_p.R861W|RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000340491.4_Missense_Mutation_p.R322W|DLGAP4_ENST00000373913.3_Missense_Mutation_p.R858W|RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R858W|RP5-977B1.7_ENST00000433238.1_RNA|DLGAP4_ENST00000475894.1_3'UTR			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	861			R -> Q (in dbSNP:rs2275807).		cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCAGCAGTTCCGGGGCCTCTG	0.532																																						ENST00000373913.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37						c.(2572-2574)Cgg>Tgg		discs, large (Drosophila) homolog-associated protein 4							101.0	86.0	91.0					20																	35152721		2203	4300	6503	SO:0001583	missense	22839				cell-cell signaling	membrane	protein binding	g.chr20:35152721C>T	AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2581C>T	20.37:g.35152721C>T	ENSP00000363014:p.Arg861Trp					DLGAP4_ENST00000339266.5_Missense_Mutation_p.R861W|DLGAP4_ENST00000373907.2_Missense_Mutation_p.R861W|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R858W|RP5-977B1.12_ENST00000433238.1_RNA|DLGAP4_ENST00000340491.4_Missense_Mutation_p.R322W|RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000475894.1_3'UTR	p.R858W			Q9Y2H0	DLGP4_HUMAN			11	3052	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	861					E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	ENST00000373907.2	37	c.2572C>T		.	.	.	.	.	.	.	.	.	.	C	23.2	4.391819	0.83011	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266;ENST00000340491	T;T;T;T;T	0.19394	2.15;2.15;2.15;2.15;2.15	6.04	3.11	0.35812	.	0.107177	0.64402	D	0.000005	T	0.47637	0.1456	M	0.84683	2.71	0.49389	D	0.999782	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.83275	0.996;0.944;0.96;0.99	T	0.47774	-0.9091	10	0.62326	D	0.03	.	10.8015	0.46491	0.0:0.7981:0.0:0.2019	.	167;322;861;858	F8WF49;Q9Y2H0-3;Q9Y2H0;Q9Y2H0-1	.;.;DLGP4_HUMAN;.	W	858;858;861;861;322	ENSP00000363023:R858W;ENSP00000384954:R858W;ENSP00000363014:R861W;ENSP00000341633:R861W;ENSP00000345700:R322W	ENSP00000341633:R861W	R	+	1	2	DLGAP4	34586135	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.659000	0.61504	0.460000	0.27045	0.563000	0.77884	CGG		0.532	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000079025.2	NM_014902		5	76	0	0	0	0.001168	0	5	76				
LTA	4049	broad.mit.edu	37	6	31541359	31541359	+	Silent	SNP	C	C	T	rs201930153		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:31541359C>T	ENST00000454783.1	+	4	765	c.507C>T	c.(505-507)caC>caT	p.H169H	LTA_ENST00000418386.2_Silent_p.H169H|TNF_ENST00000449264.2_5'Flank	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	169					apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|defense response to Gram-positive bacterium (GO:0050830)|humoral immune response (GO:0006959)|lymph node development (GO:0048535)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of growth of symbiont in host (GO:0044130)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of interferon-gamma production (GO:0032729)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|membrane (GO:0016020)	receptor binding (GO:0005102)			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CGATGTACCACGGGGCTGCGT	0.592																																						ENST00000454783.1																			0				endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9						c.(505-507)caC>caT		lymphotoxin alpha	Etanercept(DB00005)	T	,	1,4405	826.1+/-416.6	0,1,2202	178.0	171.0	174.0		507,507	1.0	1.0	6		174	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LTA	NM_000595.2,NM_001159740.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	169/206,169/206	31541359	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4049				cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr6:31541359C>T	X01393	CCDS4701.1	6p21.3	2013-05-22	2013-05-22		ENSG00000226979	ENSG00000226979		"""Tumor necrosis factor (ligand) superfamily"""	6709	protein-coding gene	gene with protein product	"""TNF superfamily member 1"""	153440	"""lymphotoxin alpha (TNF superfamily, member 1)"""	TNFB		2995927, 3001529	Standard	NM_001159740		Approved	TNFSF1, LT	uc011dnu.2	P01374	OTTHUMG00000031135	ENST00000454783.1:c.507C>T	6.37:g.31541359C>T						LTA_ENST00000418386.2_Silent_p.H169H	p.H169H	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN			4	765	+			169					Q8N4C3|Q9UKS8	Silent	SNP	ENST00000454783.1	37	c.507C>T	CCDS4701.1																																																																																				0.592	LTA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259097.1			6	235	0	0	0	0.001168	0	6	235				
AKR1E2	83592	broad.mit.edu	37	10	4884665	4884665	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr10:4884665T>C	ENST00000298375.7	+	8	877	c.806T>C	c.(805-807)aTc>aCc	p.I269T	AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000334019.4_Missense_Mutation_p.I212T|AKR1E2_ENST00000532248.1_Missense_Mutation_p.I212T|AKR1E2_ENST00000345253.5_Missense_Mutation_p.I171T	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	269						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	1,5-anhydro-D-fructose reductase activity (GO:0050571)			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CCCGGATCTATCACCCCAAGT	0.413																																					NSCLC(43;343 1097 20371 28813 45509)	ENST00000298375.7																			0				NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						c.(805-807)aTc>aCc		aldo-keto reductase family 1, member E2							161.0	160.0	160.0					10																	4884665		2203	4300	6503	SO:0001583	missense	83592					cytoplasm	1,5-anhydro-D-fructose reductase activity	g.chr10:4884665T>C	AB040820	CCDS31134.1, CCDS59210.1, CCDS59209.1	10p15.2	2009-09-09	2009-09-09	2009-09-09	ENSG00000165568	ENSG00000165568		"""Aldo-keto reductases"""	23437	protein-coding gene	gene with protein product			"""aldo-keto reductase family 1, member C-like 2"""	AKRDC1, AKR1CL2			Standard	NM_001271021		Approved	MGC10612	uc001ihi.4	Q96JD6	OTTHUMG00000017577	ENST00000298375.7:c.806T>C	10.37:g.4884665T>C	ENSP00000298375:p.Ile269Thr					AKR1E2_ENST00000334019.4_Missense_Mutation_p.I212T|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000345253.5_Missense_Mutation_p.I171T|AKR1E2_ENST00000532248.1_Missense_Mutation_p.I212T	p.I269T	NM_001040177.1	NP_001035267.1	Q96JD6	AKCL2_HUMAN			8	877	+			269					Q86Z16|Q86Z17|Q86Z18|Q9BU71	Missense_Mutation	SNP	ENST00000298375.7	37	c.806T>C	CCDS31134.1	.	.	.	.	.	.	.	.	.	.	T	9.534	1.111692	0.20714	.	.	ENSG00000165568	ENST00000298375;ENST00000532248;ENST00000334019;ENST00000345253;ENST00000487985	T;T;T;T	0.20069	2.1;2.1;2.1;2.1	4.0	4.0	0.46444	NADP-dependent oxidoreductase domain (3);	0.290100	0.31636	N	0.007301	T	0.08758	0.0217	N	0.02973	-0.45	0.24235	N	0.995385	B;B;B;B;B	0.33694	0.421;0.009;0.024;0.03;0.217	B;B;B;B;B	0.31946	0.054;0.054;0.022;0.038;0.138	T	0.17776	-1.0358	10	0.54805	T	0.06	.	9.4629	0.38796	0.0:0.0:0.0:1.0	.	173;171;212;269;212	B7Z7K2;Q96JD6-5;Q96JD6-2;Q96JD6;Q96JD6-3	.;.;.;AKCL2_HUMAN;.	T	269;212;212;171;51	ENSP00000298375:I269T;ENSP00000432947:I212T;ENSP00000335034:I212T;ENSP00000335603:I171T	ENSP00000298375:I269T	I	+	2	0	AKR1E2	4874665	0.782000	0.28689	0.147000	0.22382	0.126000	0.20510	2.134000	0.42102	1.820000	0.53075	0.260000	0.18958	ATC		0.413	AKR1E2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046520.4	NM_031436		6	189	0	0	0	0.004482	0	6	189				
PURG	29942	broad.mit.edu	37	8	30889490	30889490	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr8:30889490T>C	ENST00000475541.1	-	1	1741	c.809A>G	c.(808-810)gAc>gGc	p.D270G	PURG_ENST00000339382.2_Missense_Mutation_p.D270G|WRN_ENST00000298139.5_5'Flank	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	270						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CCTTTTATTGTCCACTCTGAA	0.438																																						ENST00000475541.1																			0				endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12						c.(808-810)gAc>gGc		purine-rich element binding protein G							72.0	67.0	68.0					8																	30889490		2203	4300	6503	SO:0001583	missense	29942					nucleus	DNA binding	g.chr8:30889490T>C	AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.809A>G	8.37:g.30889490T>C	ENSP00000418721:p.Asp270Gly					PURG_ENST00000339382.2_Missense_Mutation_p.D270G	p.D270G	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)	1	1741	-			270					Q8TE64	Missense_Mutation	SNP	ENST00000475541.1	37	c.809A>G	CCDS6081.1	.	.	.	.	.	.	.	.	.	.	T	18.49	3.635646	0.67130	.	.	ENSG00000172733	ENST00000339382;ENST00000475541	T;T	0.35789	1.29;1.29	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.59142	0.2172	M	0.73372	2.23	0.80722	D	1	D;D	0.69078	0.997;0.996	D;D	0.83275	0.996;0.993	T	0.60919	-0.7167	10	0.48119	T	0.1	-15.004	14.8371	0.70192	0.0:0.0:0.0:1.0	.	270;270	Q9UJV8;Q9UJV8-2	PURG_HUMAN;.	G	270	ENSP00000345168:D270G;ENSP00000418721:D270G	ENSP00000345168:D270G	D	-	2	0	PURG	31009032	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	1.974000	0.57490	0.533000	0.62120	GAC		0.438	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348565.1	NM_013357		57	56	0	0	0	0.003610	0	57	56				
LRP2	4036	broad.mit.edu	37	2	170048452	170048452	+	Silent	SNP	G	G	A	rs549070265		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:170048452G>A	ENST00000263816.3	-	48	9207	c.8922C>T	c.(8920-8922)ggC>ggT	p.G2974G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2974	LDL-receptor class A 22. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.G2974G(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	AATCCACATCGCCATCACAGA	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		15992	0.001		0.0	False		,,,				2504	0.0					ENST00000263816.3																			1	Substitution - coding silent(1)	p.G2974G(1)	large_intestine(1)	biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(8920-8922)ggC>ggT		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						98.0	91.0	93.0					2																	170048452		2203	4300	6503	SO:0001819	synonymous_variant	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170048452G>A		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8922C>T	2.37:g.170048452G>A							p.G2974G	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	48	9207	-			2974			LDL-receptor class A 22.		O00711|Q16215	Silent	SNP	ENST00000263816.3	37	c.8922C>T	CCDS2232.1																																																																																				0.478	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		5	113	0	0	0	0.000602	0	5	113				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Tgt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>A		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>T	2.37:g.209113113G>A	ENSP00000390265:p.Arg132Cys					IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	p.R132C			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>T	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.550898	0.86127	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.94049	0.8093	H	0.99379	4.54	0.80722	D	1	B	0.29862	0.259	B	0.31245	0.126	D	0.94048	0.7315	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	C	132	ENSP00000260985:R132C;ENSP00000410513:R132C;ENSP00000390265:R132C;ENSP00000391075:R132C	ENSP00000260985:R132C	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			44	65	0	0	0	0.003610	0	44	65				
ABCB1	5243	broad.mit.edu	37	7	87183089	87183089	+	Silent	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr7:87183089T>C	ENST00000265724.3	-	10	1404	c.987A>G	c.(985-987)ggA>ggG	p.G329G	ABCB1_ENST00000543898.1_Silent_p.G265G	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	329	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TGAGTACTTGTCCAATAGAAT	0.378																																						ENST00000265724.3																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111						c.(985-987)ggA>ggG		ATP-binding cassette, sub-family B (MDR/TAP), member 1	Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)						103.0	96.0	98.0					7																	87183089		2203	4300	6503	SO:0001819	synonymous_variant	5243				G2/M transition of mitotic cell cycle|stem cell proliferation	apical plasma membrane|cell surface|Golgi membrane|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity	g.chr7:87183089T>C	M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.987A>G	7.37:g.87183089T>C						ABCB1_ENST00000543898.1_Silent_p.G265G	p.G329G	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN			10	1404	-	Esophageal squamous(14;0.00164)		329			ABC transmembrane type-1 1.		A8K294|B5AK60|Q12755|Q14812	Silent	SNP	ENST00000265724.3	37	c.987A>G	CCDS5608.1																																																																																				0.378	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927		46	64	0	0	0	0.003610	0	46	64				
CMIP	80790	broad.mit.edu	37	16	81641214	81641214	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr16:81641214G>T	ENST00000537098.3	+	2	415	c.343G>T	c.(343-345)Gaa>Taa	p.E115*	CMIP_ENST00000539778.2_Nonsense_Mutation_p.E21*	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	115	PH.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						CAGCGCAATTGAAGACGTTCA	0.463																																						ENST00000537098.3																			0				endometrium(5)|kidney(1)|lung(7)	13						c.(343-345)Gaa>Taa		c-Maf inducing protein							133.0	129.0	131.0					16																	81641214		1940	4156	6096	SO:0001587	stop_gained	80790					cytoplasm|nucleus		g.chr16:81641214G>T	AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.343G>T	16.37:g.81641214G>T	ENSP00000446100:p.Glu115*					CMIP_ENST00000539778.2_Nonsense_Mutation_p.E21*	p.E115*	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN			2	415	+			81			PH.		Q9C0G9	Nonsense_Mutation	SNP	ENST00000537098.3	37	c.343G>T	CCDS54044.1	.	.	.	.	.	.	.	.	.	.	G	37	6.278115	0.97435	.	.	ENSG00000153815	ENST00000537098;ENST00000539778;ENST00000398040	.	.	.	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	19.1316	0.93410	0.0:0.0:1.0:0.0	.	.	.	.	X	115;21;21	.	ENSP00000381120:E21X	E	+	1	0	CMIP	80198715	1.000000	0.71417	0.966000	0.40874	0.753000	0.42808	9.321000	0.96353	2.545000	0.85829	0.591000	0.81541	GAA		0.463	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432399.2	NM_030629		10	201	1	0	9.70103e-10	0.008291	1.77205e-09	10	201				
DSCAM	1826	broad.mit.edu	37	21	41496241	41496241	+	Missense_Mutation	SNP	C	C	T	rs201680585		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr21:41496241C>T	ENST00000400454.1	-	20	4054	c.3577G>A	c.(3577-3579)Gcg>Acg	p.A1193T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1193	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTCACACCCGCGGGAGGACCT	0.597																																					Melanoma(134;970 1778 1785 21664 32388)	ENST00000400454.1																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142						c.(3577-3579)Gcg>Acg		Down syndrome cell adhesion molecule		C	THR/ALA	1,3999		0,1,1999	72.0	81.0	78.0		3577	5.2	0.2	21		78	3,8299		0,3,4148	yes	missense	DSCAM	NM_001389.3	58	0,4,6147	TT,TC,CC		0.0361,0.025,0.0325	possibly-damaging	1193/2013	41496241	4,12298	2000	4151	6151	SO:0001583	missense	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41496241C>T	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.3577G>A	21.37:g.41496241C>T	ENSP00000383303:p.Ala1193Thr						p.A1193T	NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN			20	4054	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1193			Fibronectin type-III 4.		O60468	Missense_Mutation	SNP	ENST00000400454.1	37	c.3577G>A	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.349760	0.61183	2.5E-4	3.61E-4	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.55234	0.53;0.53	5.2	5.2	0.72013	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.056768	0.64402	D	0.000001	T	0.54759	0.1878	L	0.37697	1.125	0.58432	D	0.999993	D	0.61697	0.99	P	0.50825	0.651	T	0.53968	-0.8363	10	0.39692	T	0.17	.	18.7183	0.91684	0.0:1.0:0.0:0.0	.	1193	O60469	DSCAM_HUMAN	T	1193;945	ENSP00000383303:A1193T;ENSP00000385342:A945T	ENSP00000383303:A1193T	A	-	1	0	DSCAM	40418111	1.000000	0.71417	0.222000	0.23844	0.143000	0.21401	7.636000	0.83301	2.392000	0.81423	0.563000	0.77884	GCG		0.597	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		61	91	0	0	0	0.003610	0	61	91				
TAF4B	6875	broad.mit.edu	37	18	23865961	23865961	+	Missense_Mutation	SNP	C	C	G	rs370695396		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr18:23865961C>G	ENST00000269142.5	+	7	2086	c.1088C>G	c.(1087-1089)aCt>aGt	p.T363S	TAF4B_ENST00000400466.2_Missense_Mutation_p.T363S|TAF4B_ENST00000578121.1_Missense_Mutation_p.T363S	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	363					gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ACAGTAACAACTTCTCCTGTG	0.448																																						ENST00000269142.5																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29						c.(1087-1089)aCt>aGt		TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa							113.0	109.0	110.0					18																	23865961		1974	4164	6138	SO:0001583	missense	6875				transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity	g.chr18:23865961C>G	Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.1088C>G	18.37:g.23865961C>G	ENSP00000269142:p.Thr363Ser					TAF4B_ENST00000578121.1_Missense_Mutation_p.T363S|TAF4B_ENST00000400466.2_Missense_Mutation_p.T363S	p.T363S	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)		7	2086	+	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		363					Q29YA4|Q29YA5	Missense_Mutation	SNP	ENST00000269142.5	37	c.1088C>G	CCDS42421.1	.	.	.	.	.	.	.	.	.	.	c	7.400	0.632465	0.14322	.	.	ENSG00000141384	ENST00000418698;ENST00000269142;ENST00000400466	T;T;T	0.21734	1.99;1.99;1.99	5.43	5.43	0.79202	.	1.262400	0.05481	N	0.554872	T	0.17619	0.0423	N	0.19112	0.55	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.22521	-1.0214	10	0.07990	T	0.79	-0.0323	17.0154	0.86418	0.0:1.0:0.0:0.0	.	363;363	Q92750;A4PBF7	TAF4B_HUMAN;.	S	363	ENSP00000389365:T363S;ENSP00000269142:T363S;ENSP00000383314:T363S	ENSP00000269142:T363S	T	+	2	0	TAF4B	22119959	0.102000	0.21896	0.072000	0.20136	0.281000	0.26958	3.655000	0.54460	2.537000	0.85549	0.558000	0.71614	ACT		0.448	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000446260.3	NM_005640		5	153	0	0	0	0.000602	0	5	153				
PLAA	9373	broad.mit.edu	37	9	26905915	26905915	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr9:26905915C>T	ENST00000397292.3	-	14	2399	c.1982G>A	c.(1981-1983)aGg>aAg	p.R661K		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	661	PUL. {ECO:0000255|PROSITE- ProRule:PRU00729}.				inflammatory response (GO:0006954)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)	phospholipase A2 activator activity (GO:0016005)			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		GCAAAAAGTCCTGAGAGCAAG	0.458																																					Melanoma(175;2670 2735 14091 35526)	ENST00000397292.3																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17						c.(1981-1983)aGg>aAg		phospholipase A2-activating protein							71.0	71.0	71.0					9																	26905915		2203	4300	6503	SO:0001583	missense	9373				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity	g.chr9:26905915C>T	AF083395	CCDS35000.1	9p21	2013-01-10			ENSG00000137055	ENSG00000137055		"""WD repeat domain containing"""	9043	protein-coding gene	gene with protein product	"""DOA1 homolog (S. cerevisiae)"""	603873				9931468, 10644453	Standard	NM_001031689		Approved	PLAP, PLA2P, FLJ11281, FLJ12699, DOA1	uc003zqd.3	Q9Y263	OTTHUMG00000019708	ENST00000397292.3:c.1982G>A	9.37:g.26905915C>T	ENSP00000380460:p.Arg661Lys						p.R661K	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)	14	2399	-		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)	661			PUL.		Q53EU5|Q5VY33|Q9NUL8|Q9NVE9|Q9UF53|Q9Y5L1	Missense_Mutation	SNP	ENST00000397292.3	37	c.1982G>A	CCDS35000.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097201	0.94197	.	.	ENSG00000137055	ENST00000397292	T	0.49432	0.78	6.07	6.07	0.98685	PUL (2);	0.000000	0.85682	D	0.000000	T	0.65207	0.2669	M	0.72353	2.195	0.80722	D	1	D	0.55800	0.973	P	0.55508	0.777	T	0.62402	-0.6862	10	0.46703	T	0.11	-14.4978	20.6593	0.99626	0.0:1.0:0.0:0.0	.	661	Q9Y263	PLAP_HUMAN	K	661	ENSP00000380460:R661K	ENSP00000380460:R661K	R	-	2	0	PLAA	26895915	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.288000	0.78691	2.885000	0.99019	0.655000	0.94253	AGG		0.458	PLAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051958.2	NM_001031689		6	62	0	0	0	0.001168	0	6	62				
KIAA0825	285600	broad.mit.edu	37	5	93856210	93856210	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr5:93856210T>G	ENST00000329378.7	-	5	962	c.713A>C	c.(712-714)gAt>gCt	p.D238A	KIAA0825_ENST00000312498.7_Missense_Mutation_p.D238A|KIAA0825_ENST00000427991.2_Missense_Mutation_p.D238A|KIAA0825_ENST00000513200.3_Missense_Mutation_p.D238A	NM_173665.2	NP_775936.1	Q8IV33	K0825_HUMAN	KIAA0825	238										breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						AGCTATTACATCTAAATTTGA	0.308																																						ENST00000513200.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(1)	13						c.(712-714)gAt>gCt		KIAA0825							70.0	74.0	73.0					5																	93856210		2202	4298	6500	SO:0001583	missense	285600							g.chr5:93856210T>G	BX648338	CCDS4070.1	5q15	2011-02-23	2011-02-23	2011-02-23	ENSG00000185261	ENSG00000185261			28532	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 36"""	C5orf36		12477932	Standard	NM_173665		Approved	DKFZp686F0372, MGC34713	uc011cuk.2	Q8IV33	OTTHUMG00000131331	ENST00000329378.7:c.713A>C	5.37:g.93856210T>G	ENSP00000331385:p.Asp238Ala					KIAA0825_ENST00000329378.7_Missense_Mutation_p.D238A|KIAA0825_ENST00000427991.2_Missense_Mutation_p.D238A|KIAA0825_ENST00000312498.7_Missense_Mutation_p.D238A	p.D238A	NM_001145678.1	NP_001139150.1	Q8IV33	K0825_HUMAN			4	785	-			238					O94914|Q6ZNN2	Missense_Mutation	SNP	ENST00000329378.7	37	c.713A>C	CCDS4070.1	.	.	.	.	.	.	.	.	.	.	T	17.69	3.452679	0.63290	.	.	ENSG00000185261	ENST00000513200;ENST00000427991;ENST00000312498;ENST00000329378	T;T;D;D	0.85484	0.48;0.48;-1.99;-1.99	5.51	5.51	0.81932	.	0.348826	0.35349	N	0.003278	D	0.89305	0.6677	M	0.61703	1.905	0.38343	D	0.944118	D;D	0.63046	0.992;0.971	P;P	0.56865	0.808;0.651	D	0.91387	0.5132	10	0.62326	D	0.03	.	15.611	0.76716	0.0:0.0:0.0:1.0	.	238;238	Q8IV33;Q8IV33-2	K0825_HUMAN;.	A	238	ENSP00000424618:D238A;ENSP00000400288:D238A;ENSP00000312205:D238A;ENSP00000331385:D238A	ENSP00000312205:D238A	D	-	2	0	KIAA0825	93881966	1.000000	0.71417	0.924000	0.36721	0.680000	0.39746	4.586000	0.60984	2.091000	0.63221	0.477000	0.44152	GAT		0.308	KIAA0825-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371180.2	NM_173665		6	72	0	0	0	0.001984	0	6	72				
PTPRB	5787	broad.mit.edu	37	12	70965783	70965783	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr12:70965783T>G	ENST00000261266.5	-	10	2302	c.2273A>C	c.(2272-2274)gAc>gCc	p.D758A	PTPRB_ENST00000334414.6_Missense_Mutation_p.D976A|PTPRB_ENST00000551525.1_Missense_Mutation_p.D975A|PTPRB_ENST00000550857.1_Missense_Mutation_p.D668A|PTPRB_ENST00000538708.1_Missense_Mutation_p.D758A|PTPRB_ENST00000451516.2_Missense_Mutation_p.D668A|PTPRB_ENST00000550358.1_Missense_Mutation_p.D888A	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	758	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTGATCAAAGTCTCCAGTGGC	0.413																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(2926-2928)gAc>gCc		protein tyrosine phosphatase, receptor type, B							137.0	140.0	139.0					12																	70965783		1954	4172	6126	SO:0001583	missense	0				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70965783T>G	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.2273A>C	12.37:g.70965783T>G	ENSP00000261266:p.Asp758Ala					PTPRB_ENST00000550857.1_Missense_Mutation_p.D668A|PTPRB_ENST00000538708.1_Missense_Mutation_p.D758A|PTPRB_ENST00000550358.1_Missense_Mutation_p.D888A|PTPRB_ENST00000551525.1_Missense_Mutation_p.D975A|PTPRB_ENST00000451516.2_Missense_Mutation_p.D668A|PTPRB_ENST00000261266.5_Missense_Mutation_p.D758A	p.D976A	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		12	2971	-	Renal(347;0.236)		758			Fibronectin type-III 11.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.2927A>C	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.096462	0.76870	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.57273	0.41;0.41;0.41;0.41;0.41;0.41;0.41;0.41	6.08	6.08	0.98989	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.200752	0.52532	D	0.000072	T	0.67599	0.2910	M	0.82193	2.58	0.42102	D	0.991341	P;P;D;P;D;P;P	0.61697	0.929;0.929;0.99;0.584;0.974;0.942;0.575	P;P;D;B;P;P;P	0.62955	0.841;0.841;0.909;0.237;0.903;0.902;0.526	T	0.68349	-0.5432	10	0.07175	T	0.84	.	12.3841	0.55323	0.0:0.0:0.1396:0.8604	.	668;758;855;975;976;758;888	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	A	976;668;888;888;758;668;758;975;855	ENSP00000334928:D976A;ENSP00000393028:D668A;ENSP00000448058:D888A;ENSP00000438927:D758A;ENSP00000447302:D668A;ENSP00000261266:D758A;ENSP00000448349:D975A;ENSP00000446982:D855A	ENSP00000261266:D758A	D	-	2	0	PTPRB	69252050	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.858000	0.69532	2.333000	0.79357	0.533000	0.62120	GAC		0.413	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			9	275	0	0	0	0.004482	0	9	275				
PHYKPL	85007	broad.mit.edu	37	5	177652385	177652385	+	Silent	SNP	C	C	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr5:177652385C>A	ENST00000308158.5	-	4	618	c.384G>T	c.(382-384)acG>acT	p.T128T	PHYKPL_ENST00000481811.1_Intron	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase	128						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	CCTGGTGTCCCGTGTAGTGGC	0.557																																						ENST00000308158.5																			0											c.(382-384)acG>acT		5-phosphohydroxy-L-lysine phospho-lyase							90.0	75.0	80.0					5																	177652385		2203	4300	6503	SO:0001819	synonymous_variant	85007							g.chr5:177652385C>A	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"""5-phosphonooxy-L-lysine phospho-lyase"""	614683	"""alanine-glyoxylate aminotransferase 2-like 2"""	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.384G>T	5.37:g.177652385C>A						PHYKPL_ENST00000481811.1_Intron	p.T128T	NM_153373.2	NP_699204.1					4	618	-								A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Silent	SNP	ENST00000308158.5	37	c.384G>T	CCDS4434.1																																																																																				0.557	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921		4	80	1	0	0.000602214	0.000602	0.00104435	4	80				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			0							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	93	0	0	0	0.000248	0	3	93				
ZNF800	168850	broad.mit.edu	37	7	127014981	127014981	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr7:127014981C>G	ENST00000393313.1	-	5	1000	c.409G>C	c.(409-411)Gaa>Caa	p.E137Q	ZNF800_ENST00000393312.1_Missense_Mutation_p.E137Q|ZNF800_ENST00000485577.1_5'Flank|ZNF800_ENST00000265827.3_Missense_Mutation_p.E137Q			Q2TB10	ZN800_HUMAN	zinc finger protein 800	137					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TGATTAGTTTCTATGGGTTCT	0.348																																						ENST00000393313.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						c.(409-411)Gaa>Caa		zinc finger protein 800							105.0	104.0	105.0					7																	127014981		2203	4299	6502	SO:0001583	missense	168850				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:127014981C>G	AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.409G>C	7.37:g.127014981C>G	ENSP00000376989:p.Glu137Gln					ZNF800_ENST00000393312.1_Missense_Mutation_p.E137Q|ZNF800_ENST00000265827.3_Missense_Mutation_p.E137Q	p.E137Q			Q2TB10	ZN800_HUMAN			5	1000	-			137					Q9HBN0	Missense_Mutation	SNP	ENST00000393313.1	37	c.409G>C	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	C	7.399	0.632336	0.14322	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312;ENST00000434602	T;T;T;T	0.47177	2.47;2.47;2.47;0.85	5.68	5.68	0.88126	.	0.148852	0.64402	D	0.000012	T	0.28566	0.0707	N	0.12746	0.255	0.27609	N	0.948717	B;B	0.29162	0.235;0.015	B;B	0.19666	0.026;0.007	T	0.36138	-0.9760	9	0.22109	T	0.4	-1.8906	14.3948	0.67003	0.0:0.8527:0.1473:0.0	.	40;137	B7Z4V7;Q2TB10	.;ZN800_HUMAN	Q	137	ENSP00000376989:E137Q;ENSP00000265827:E137Q;ENSP00000376988:E137Q;ENSP00000403945:E137Q	ENSP00000265827:E137Q	E	-	1	0	ZNF800	126802217	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.229000	0.58625	2.685000	0.91497	0.650000	0.86243	GAA		0.348	ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814		4	83	0	0	0	0.000248	0	4	83				
PNLIPRP1	5407	broad.mit.edu	37	10	118351397	118351397	+	Missense_Mutation	SNP	G	G	A	rs115887041		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr10:118351397G>A	ENST00000528052.1	+	3	235	c.164G>A	c.(163-165)cGc>cAc	p.R55H	PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.R55H|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.R55H|PNLIPRP1_ENST00000480870.2_3'UTR|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.R55H			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	55					lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|triglyceride lipase activity (GO:0004806)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		ATCGGCACCCGCTTCCTGCTG	0.542													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17090	0.0		0.0	False		,,,				2504	0.0					ENST00000528052.1																			0				breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38						c.(163-165)cGc>cAc		pancreatic lipase-related protein 1							116.0	117.0	117.0					10																	118351397		2203	4300	6503	SO:0001583	missense	5407				lipid metabolic process		calcium ion binding|triglyceride lipase activity	g.chr10:118351397G>A	BC025784	CCDS7595.1	10q26.12	2006-07-04			ENSG00000187021	ENSG00000187021			9156	protein-coding gene	gene with protein product		604422				1379598	Standard	NM_006229		Approved	PLRP1	uc001lco.1	P54315	OTTHUMG00000019109	ENST00000528052.1:c.164G>A	10.37:g.118351397G>A	ENSP00000433933:p.Arg55His					PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.R55H|PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.R55H|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.R55H|PNLIPRP1_ENST00000480870.2_3'UTR	p.R55H			P54315	LIPR1_HUMAN		all cancers(201;0.0161)	3	235	+			55					Q68D83|Q68DR6|Q8TAU2|Q9BS82	Missense_Mutation	SNP	ENST00000528052.1	37	c.164G>A	CCDS7595.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	15.40	2.823253	0.50739	.	.	ENSG00000187021	ENST00000531984;ENST00000358834;ENST00000528052;ENST00000442761;ENST00000530319;ENST00000527980;ENST00000471549;ENST00000534537	D;D;D;D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91;-2.91	5.66	3.81	0.43845	Lipase, N-terminal (1);	0.159019	0.44688	N	0.000423	D	0.88826	0.6542	M	0.66506	2.035	0.41391	D	0.987617	B;P	0.44627	0.443;0.839	B;B	0.39068	0.082;0.289	D	0.86293	0.1675	10	0.59425	D	0.04	-14.8869	6.9411	0.24492	0.1525:0.0:0.7062:0.1412	.	55;55	P54315;P54315-2	LIPR1_HUMAN;.	H	55	ENSP00000436123:R55H;ENSP00000351695:R55H;ENSP00000433933:R55H;ENSP00000400963:R55H;ENSP00000437263:R55H;ENSP00000433785:R55H;ENSP00000431207:R55H;ENSP00000434159:R55H	ENSP00000351695:R55H	R	+	2	0	PNLIPRP1	118341387	0.916000	0.31088	0.997000	0.53966	0.986000	0.74619	1.066000	0.30604	0.748000	0.32831	0.655000	0.94253	CGC		0.542	PNLIPRP1-011	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384633.1	NM_006229		7	200	0	0	0	0.003080	0	7	200				
CSMD3	114788	broad.mit.edu	37	8	113697870	113697870	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr8:113697870C>T	ENST00000297405.5	-	15	2491	c.2247G>A	c.(2245-2247)tgG>tgA	p.W749*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W709*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W749*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W645*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	749	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGATTATCGTCCAGATGCAAT	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(2245-2247)tgG>tgA		CUB and Sushi multiple domains 3							96.0	103.0	101.0					8																	113697870		2203	4300	6503	SO:0001587	stop_gained	114788					integral to membrane|plasma membrane		g.chr8:113697870C>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2247G>A	8.37:g.113697870C>T	ENSP00000297405:p.Trp749*	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W645*|CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W709*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W749*	p.W749*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			15	2491	-			749			CUB 4.		Q96PZ3	Nonsense_Mutation	SNP	ENST00000297405.5	37	c.2247G>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	43	10.368628	0.99392	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	.	.	.	5.72	5.72	0.89469	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8753	0.96867	0.0:1.0:0.0:0.0	.	.	.	.	X	709;749;89;645;749	.	ENSP00000297405:W749X	W	-	3	0	CSMD3	113767046	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.711000	0.92665	0.655000	0.94253	TGG		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		5	315	0	0	0	0.001984	0	5	315				
DYNC1LI1	51143	broad.mit.edu	37	3	32571802	32571802	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr3:32571802G>A	ENST00000273130.4	-	10	1262	c.1159C>T	c.(1159-1161)Cca>Tca	p.P387S	DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.P271S	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	387					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						GCAGTTGGTGGTTGCTTTGCT	0.284																																						ENST00000273130.4																			0				kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						c.(1159-1161)Cca>Tca		dynein, cytoplasmic 1, light intermediate chain 1							31.0	33.0	32.0					3																	32571802		2200	4298	6498	SO:0001583	missense	51143				cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity	g.chr3:32571802G>A	AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"""Cytoplasmic dyneins"""	18745	protein-coding gene	gene with protein product		615890	"""dynein, cytoplasmic, light intermediate polypeptide 1"""	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.1159C>T	3.37:g.32571802G>A	ENSP00000273130:p.Pro387Ser					DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.P271S	p.P387S	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN			10	1262	-			387					A2RRG7|Q53HC8|Q53HK7	Missense_Mutation	SNP	ENST00000273130.4	37	c.1159C>T	CCDS2654.1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.655871	0.67586	.	.	ENSG00000144635	ENST00000273130;ENST00000432458	T;T	0.17054	2.3;2.3	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.40347	0.1113	L	0.56199	1.76	0.80722	D	1	D;B	0.89917	1.0;0.444	D;P	0.91635	0.999;0.505	T	0.00822	-1.1552	10	0.35671	T	0.21	-8.7209	20.3747	0.98911	0.0:0.0:1.0:0.0	.	271;387	E9PHI6;Q9Y6G9	.;DC1L1_HUMAN	S	387;271	ENSP00000273130:P387S;ENSP00000407279:P271S	ENSP00000273130:P387S	P	-	1	0	DYNC1LI1	32546806	1.000000	0.71417	0.991000	0.47740	0.809000	0.45718	9.046000	0.93817	2.817000	0.96982	0.563000	0.77884	CCA		0.284	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253250.1	NM_016141		3	33	0	0	0	0.000248	0	3	33				
HSP90AB1	3326	broad.mit.edu	37	6	44220940	44220940	+	Silent	SNP	T	T	C	rs61753593		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:44220940T>C	ENST00000371554.1	+	11	2104	c.1890T>C	c.(1888-1890)ccT>ccC	p.P630P	HSP90AB1_ENST00000371646.5_Silent_p.P630P|MIR4647_ENST00000583964.1_RNA|HSP90AB1_ENST00000353801.3_Silent_p.P630P|SLC35B2_ENST00000495706.1_5'Flank			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	630					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGATCAACCCTGACCACCCCA	0.557																																						ENST00000371554.1																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33						c.(1888-1890)ccT>ccC		heat shock protein 90kDa alpha (cytosolic), class B member 1							127.0	132.0	131.0					6																	44220940		2203	4300	6503	SO:0001819	synonymous_variant	3326				axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding	g.chr6:44220940T>C	AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.1890T>C	6.37:g.44220940T>C						HSP90AB1_ENST00000371646.5_Silent_p.P630P|HSP90AB1_ENST00000353801.3_Silent_p.P630P	p.P630P			P08238	HS90B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		11	2104	+	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		630					B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Silent	SNP	ENST00000371554.1	37	c.1890T>C	CCDS4909.1																																																																																				0.557	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040730.1	NM_007355		4	223	0	0	0	0.000602	0	4	223				
UPK3A	7380	broad.mit.edu	37	22	45689091	45689091	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr22:45689091C>T	ENST00000216211.4	+	5	633	c.601C>T	c.(601-603)Cca>Tca	p.P201S	UPK3A_ENST00000396082.2_Missense_Mutation_p.P80S	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	201					cell morphogenesis (GO:0000902)|epithelial cell differentiation (GO:0030855)|kidney development (GO:0001822)|potassium ion homeostasis (GO:0055075)|sodium ion homeostasis (GO:0055078)|urea transport (GO:0015840)|urinary bladder development (GO:0060157)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CGACACGTGGCCAGGCCGGCG	0.632																																						ENST00000216211.4																			0				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5						c.(601-603)Cca>Tca		uroplakin 3A							135.0	93.0	107.0					22																	45689091		2203	4300	6503	SO:0001583	missense	7380				epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane		g.chr22:45689091C>T	AB010637	CCDS14064.1, CCDS54539.1	22q13.31	2005-11-14	2003-07-29	2003-07-30	ENSG00000100373	ENSG00000100373			12580	protein-coding gene	gene with protein product		611559	"""uroplakin 3"""	UPK3		9818021	Standard	NM_006953		Approved		uc003bfy.3	O75631	OTTHUMG00000151339	ENST00000216211.4:c.601C>T	22.37:g.45689091C>T	ENSP00000216211:p.Pro201Ser					UPK3A_ENST00000396082.2_Missense_Mutation_p.P80S	p.P201S	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)	5	633	+		Ovarian(80;0.00965)|all_neural(38;0.0416)	201					B0QY25|O60261|Q32N05|Q5TII6	Missense_Mutation	SNP	ENST00000216211.4	37	c.601C>T	CCDS14064.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.483384	0.84854	.	.	ENSG00000100373	ENST00000216211;ENST00000396082	T;D	0.94497	-0.58;-3.44	5.2	5.2	0.72013	.	0.070657	0.56097	D	0.000021	D	0.96950	0.9004	M	0.76574	2.34	0.45035	D	0.998051	D;D	0.89917	1.0;0.998	D;D	0.87578	0.998;0.939	D	0.97512	1.0067	10	0.87932	D	0	-27.8822	16.3069	0.82852	0.0:1.0:0.0:0.0	.	80;201	O75631-2;O75631	.;UPK3A_HUMAN	S	201;80	ENSP00000216211:P201S;ENSP00000379391:P80S	ENSP00000216211:P201S	P	+	1	0	UPK3A	44067755	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	4.157000	0.58144	2.443000	0.82685	0.650000	0.86243	CCA		0.632	UPK3A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000322276.1	NM_006953		5	66	0	0	0	0.001984	0	5	66				
ASAP1	50807	broad.mit.edu	37	8	131127907	131127907	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr8:131127907C>G	ENST00000518721.1	-	23	2366	c.2139G>C	c.(2137-2139)gaG>gaC	p.E713D	ASAP1_ENST00000357668.1_Missense_Mutation_p.E713D	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	713					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCTCATCTATCTCCTCCTGTC	0.433																																						ENST00000357668.1																			0				breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						c.(2137-2139)gaG>gaC		ArfGAP with SH3 domain, ankyrin repeat and PH domain 1							317.0	274.0	288.0					8																	131127907		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131127907C>G	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2139G>C	8.37:g.131127907C>G	ENSP00000429900:p.Glu713Asp					ASAP1_ENST00000518721.1_Missense_Mutation_p.E713D	p.E713D			Q9ULH1	ASAP1_HUMAN			22	2166	-			713					B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.2139G>C	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	9.007|9.007	0.981561|0.981561	0.18812|0.18812	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000524124;ENST00000519483|ENST00000343135;ENST00000357668;ENST00000518721	.|T;T	.|0.05258	.|3.47;3.47	5.17|5.17	3.28|3.28	0.37604|0.37604	.|.	.|0.291580	.|0.39083	.|N	.|0.001465	T|T	0.07818|0.07818	0.0196|0.0196	N|N	0.17379|0.17379	0.485|0.485	0.51233|0.51233	D|D	0.999912|0.999912	.|B;B;D	.|0.67145	.|0.274;0.274;0.996	.|B;B;D	.|0.76071	.|0.13;0.13;0.987	T|T	0.41215|0.41215	-0.9521|-0.9521	5|10	.|0.02654	.|T	.|1	.|.	6.8754|6.8754	0.24143|0.24143	0.0:0.6068:0.0:0.3932|0.0:0.6068:0.0:0.3932	.|.	.|713;713;716	.|B2RNV3;Q9ULH1;Q9ULH1-2	.|.;ASAP1_HUMAN;.	H|D	534;127|716;713;713	.|ENSP00000350297:E713D;ENSP00000429900:E713D	.|ENSP00000344591:E716D	D|E	-|-	1|3	0|2	ASAP1|ASAP1	131197089|131197089	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	0.628000|0.628000	0.24522|0.24522	0.620000|0.620000	0.30215|0.30215	-0.355000|-0.355000	0.07637|0.07637	GAT|GAG		0.433	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		7	946	0	0	0	0.001168	0	7	946				
ENPP5	59084	broad.mit.edu	37	6	46129357	46129357	+	Silent	SNP	G	G	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:46129357G>A	ENST00000371383.2	-	5	1400	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	ENPP5_ENST00000230565.3_Silent_p.L380L					ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)											endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TGATATTGAGGAGGTGGCATA	0.443																																						ENST00000371383.2																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						c.(1138-1140)ctC>ctT		ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)							252.0	252.0	252.0					6																	46129357		2203	4300	6503	SO:0001819	synonymous_variant	59084					extracellular region|integral to membrane	hydrolase activity	g.chr6:46129357G>A	AL035701	CCDS4915.1	6p21.1-p11.2	2010-06-24	2010-06-24		ENSG00000112796	ENSG00000112796			13717	protein-coding gene	gene with protein product						11027689	Standard	XM_005249259		Approved		uc003oxz.1	Q9UJA9	OTTHUMG00000014781	ENST00000371383.2:c.1140C>T	6.37:g.46129357G>A						ENPP5_ENST00000230565.3_Silent_p.L380L	p.L380L			Q9UJA9	ENPP5_HUMAN			5	1400	-			380						Silent	SNP	ENST00000371383.2	37	c.1140C>T	CCDS4915.1																																																																																				0.443	ENPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040779.2			24	336	0	0	0	0.006320	0	24	336				
CTSO	1519	broad.mit.edu	37	4	156847189	156847189	+	Nonstop_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr4:156847189C>G	ENST00000433477.3	-	8	1034	c.965G>C	c.(964-966)tGa>tCa	p.*322S		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O	0					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CCCAACATGTCACACAAATAT	0.308																																					Pancreas(148;2303 2598 8989 35298)	ENST00000433477.3																			0				breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16						c.(964-966)tGa>tCa		cathepsin O							93.0	88.0	90.0					4																	156847189		2203	4300	6503	SO:0001578	stop_lost	1519				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr4:156847189C>G	X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043		"""Cathepsins"""	2542	protein-coding gene	gene with protein product		600550		CTSO1		9790772	Standard	NM_001334		Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.965G>C	4.37:g.156847189C>G							p.*322S	NM_001334.2	NP_001325.1	P43234	CATO_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)	8	1034	-	all_hematologic(180;0.24)	Renal(120;0.0458)	0					Q6FHS6	Nonstop_Mutation	SNP	ENST00000433477.3	37	c.965G>C	CCDS3794.1	.	.	.	.	.	.	.	.	.	.	C	4.465	0.086207	0.08583	.	.	ENSG00000256043	ENST00000433477	.	.	.	5.68	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.102	0.48179	0.0:0.8579:0.0:0.1421	.	.	.	.	S	322	.	.	X	-	2	2	CTSO	157066639	1.000000	0.71417	0.992000	0.48379	0.034000	0.12701	2.961000	0.49168	1.541000	0.49316	0.655000	0.94253	TGA		0.308	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366469.1	NM_001334		8	26	0	0	0	0.004482	0	8	26				
ACO2	50	broad.mit.edu	37	22	41895798	41895798	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr22:41895798C>G	ENST00000216254.4	+	2	127	c.105C>G	c.(103-105)agC>agG	p.S35R	ACO2_ENST00000396512.3_Missense_Mutation_p.S35R	NM_001098.2	NP_001089.1	Q99798	ACON_HUMAN	aconitase 2, mitochondrial	35				S -> T (in Ref. 1; AAB38416). {ECO:0000305}.	cell death (GO:0008219)|cellular metabolic process (GO:0044237)|citrate metabolic process (GO:0006101)|generation of precursor metabolites and energy (GO:0006091)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3 iron, 4 sulfur cluster binding (GO:0051538)|4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron ion binding (GO:0005506)			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						TGGCGATGAGCCACTTTGAGC	0.517																																						ENST00000396512.3																			0				breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						c.(103-105)agC>agG		aconitase 2, mitochondrial							231.0	213.0	219.0					22																	41895798		2203	4300	6503	SO:0001583	missense	50				citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity	g.chr22:41895798C>G	AH006514	CCDS14017.1	22q13.2	2013-05-21			ENSG00000100412	ENSG00000100412	4.2.1.3		118	protein-coding gene	gene with protein product	"""aconitate hydratase, mitochondrial"""	100850				10591208	Standard	NM_001098		Approved	ACONM	uc003bac.3	Q99798	OTTHUMG00000030544	ENST00000216254.4:c.105C>G	22.37:g.41895798C>G	ENSP00000216254:p.Ser35Arg					ACO2_ENST00000216254.4_Missense_Mutation_p.S35R	p.S35R			Q99798	ACON_HUMAN			2	122	+			35	S -> T (in Ref. 1; AAB38416).				O75809|Q5JZ41|Q6FHX0|Q8TAQ6	Missense_Mutation	SNP	ENST00000216254.4	37	c.105C>G	CCDS14017.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494667	0.85069	.	.	ENSG00000100412	ENST00000544234;ENST00000216254;ENST00000396512	T;T	0.75938	-0.98;-0.98	5.01	5.01	0.66863	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (1);	0.000000	0.85682	D	0.000000	D	0.86104	0.5853	M	0.82323	2.585	0.80722	D	1	P;D	0.89917	0.95;1.0	P;D	0.83275	0.873;0.996	D	0.87339	0.2330	10	0.59425	D	0.04	.	13.068	0.59045	0.0:0.9224:0.0:0.0776	.	35;35	A2A274;Q99798	.;ACON_HUMAN	R	35	ENSP00000216254:S35R;ENSP00000379769:S35R	ENSP00000216254:S35R	S	+	3	2	ACO2	40225744	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.742000	0.55097	2.483000	0.83821	0.585000	0.79938	AGC		0.517	ACO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259151.1	NM_001098		5	423	0	0	0	0.000602	0	5	423				
TAS2R4	50832	broad.mit.edu	37	7	141478489	141478489	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr7:141478489C>G	ENST00000247881.2	+	1	248	c.201C>G	c.(199-201)atC>atG	p.I67M	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	67					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|respiratory gaseous exchange (GO:0007585)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TGAACACCATCTACTTCGTCT	0.443																																						ENST00000247881.2																			0				endometrium(1)|large_intestine(4)|lung(2)	7						c.(199-201)atC>atG		taste receptor, type 2, member 4							250.0	226.0	234.0					7																	141478489		2203	4300	6503	SO:0001583	missense	50832				sensory perception of taste	cilium membrane	taste receptor activity	g.chr7:141478489C>G	AF227131	CCDS5868.1	7q31.3-q32	2012-08-22			ENSG00000127364	ENSG00000127364		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14911	protein-coding gene	gene with protein product		604869				10761934, 10761935	Standard	NM_016944		Approved	T2R4	uc003vwq.1	Q9NYW5	OTTHUMG00000157634	ENST00000247881.2:c.201C>G	7.37:g.141478489C>G	ENSP00000247881:p.Ile67Met					SSBP1_ENST00000465582.1_Intron	p.I67M	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN		BRCA - Breast invasive adenocarcinoma(188;0.196)	1	248	+	Melanoma(164;0.0171)		67					Q645W5|Q75MV8	Missense_Mutation	SNP	ENST00000247881.2	37	c.201C>G	CCDS5868.1	.	.	.	.	.	.	.	.	.	.	C	4.116	0.019698	0.08006	.	.	ENSG00000127364	ENST00000247881	T	0.00801	5.68	5.57	0.106	0.14540	.	1.737230	0.03035	N	0.152635	T	0.01695	0.0054	L	0.43152	1.355	0.09310	N	1	B	0.32365	0.367	B	0.40702	0.338	T	0.46331	-0.9199	10	0.48119	T	0.1	.	5.525	0.16953	0.0:0.3027:0.4503:0.247	.	67	Q9NYW5	TA2R4_HUMAN	M	67	ENSP00000247881:I67M	ENSP00000247881:I67M	I	+	3	3	TAS2R4	141124958	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.119000	0.03276	0.357000	0.24183	0.650000	0.86243	ATC		0.443	TAS2R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349285.1			19	244	0	0	0	0.007413	0	19	244				
OR12D2	26529	broad.mit.edu	37	6	29364925	29364925	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:29364925G>T	ENST00000383555.2	+	1	510	c.449G>T	c.(448-450)gGt>gTt	p.G150V	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	150						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TGGGTCATTGGTTTTTTCCAT	0.473																																						ENST00000383555.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						c.(448-450)gGt>gTt		olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)							148.0	143.0	145.0					6																	29364925		1511	2709	4220	SO:0001583	missense	26529				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29364925G>T		CCDS4659.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000168787	ENSG00000168787		"""GPCR / Class A : Olfactory receptors"""	8178	protein-coding gene	gene with protein product			"""olfactory receptor, family 12, subfamily D, member 2"""				Standard	NM_013936		Approved	hs6M1-20	uc003nmf.4	P58182	OTTHUMG00000031049	ENST00000383555.2:c.449G>T	6.37:g.29364925G>T	ENSP00000373047:p.Gly150Val					OR5V1_ENST00000377154.1_Intron	p.G150V	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN			1	510	+			150					B0S862|Q5SUN9|Q6IET9	Missense_Mutation	SNP	ENST00000383555.2	37	c.449G>T	CCDS4659.1	.	.	.	.	.	.	.	.	.	.	G	5.429	0.264314	0.10294	.	.	ENSG00000168787	ENST00000383555	T	0.39056	1.1	3.94	2.05	0.26809	GPCR, rhodopsin-like superfamily (1);	0.197702	0.35585	N	0.003107	T	0.41259	0.1151	M	0.90198	3.095	0.38391	D	0.945418	B	0.30664	0.289	B	0.37451	0.25	T	0.50825	-0.8782	10	0.66056	D	0.02	.	13.2854	0.60241	0.0:0.3023:0.6977:0.0	.	150	P58182	O12D2_HUMAN	V	150	ENSP00000373047:G150V	ENSP00000373047:G150V	G	+	2	0	OR12D2	29472904	0.004000	0.15560	0.003000	0.11579	0.024000	0.10985	-0.486000	0.06513	0.274000	0.22072	0.205000	0.17691	GGT		0.473	OR12D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076054.2			13	147	1	0	1.05317e-09	0.002450	1.89848e-09	13	147				
TMPRSS2	7113	broad.mit.edu	37	21	42845269	42845269	+	Silent	SNP	G	G	A	rs562033822		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr21:42845269G>A	ENST00000332149.5	-	9	1016	c.882C>T	c.(880-882)gcC>gcT	p.A294A	TMPRSS2_ENST00000398585.3_Silent_p.A331A|TMPRSS2_ENST00000458356.1_Silent_p.A294A	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	294	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				CGCAGTGGGCGGCTGTCACGA	0.692			T	"""ERG, ETV1, ETV4, ETV5"""	prostate								G|||	1	0.000199681	0.0	0.0	5008	,	,		14299	0.001		0.0	False		,,,				2504	0.0					ENST00000398585.3				Dom	yes		21	21q22.3	7113	T	"""transmembrane protease, serine 2"""			E	"""ERG, ETV1, ETV4, ETV5"""		prostate	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	0				central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4						c.(991-993)gcC>gcT		transmembrane protease, serine 2																																				SO:0001819	synonymous_variant	0				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:42845269G>A	U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"""Serine peptidases / Transmembrane"""	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.882C>T	21.37:g.42845269G>A						TMPRSS2_ENST00000458356.1_Silent_p.A294A|TMPRSS2_ENST00000332149.5_Silent_p.A294A	p.A331A	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN			9	1053	-		Prostate(19;4.48e-07)|all_epithelial(19;0.031)	294			Peptidase S1.		A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Silent	SNP	ENST00000332149.5	37	c.993C>T	CCDS33564.1																																																																																				0.692	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			6	8	0	0	0	0.001984	0	6	8				
VIL1	7429	broad.mit.edu	37	2	219299321	219299321	+	Missense_Mutation	SNP	G	G	A	rs372157130		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:219299321G>A	ENST00000248444.5	+	14	1661	c.1573G>A	c.(1573-1575)Gcc>Acc	p.A525T	VIL1_ENST00000392114.2_Missense_Mutation_p.A214T	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	525	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGAACTGGCGCCAACAACAC	0.572																																						ENST00000248444.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						c.(1573-1575)Gcc>Acc		villin 1		G	THR/ALA	0,4406		0,0,2203	97.0	97.0	97.0		1573	-0.9	0.0	2		97	1,8599	1.2+/-3.3	0,1,4299	no	missense	VIL1	NM_007127.2	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	525/828	219299321	1,13005	2203	4300	6503	SO:0001583	missense	7429				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	g.chr2:219299321G>A	X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.1573G>A	2.37:g.219299321G>A	ENSP00000248444:p.Ala525Thr					VIL1_ENST00000392114.2_Missense_Mutation_p.A214T	p.A525T	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	14	1661	+		Renal(207;0.0474)	525			Core.		B2R9A7|Q53S11|Q96AC8	Missense_Mutation	SNP	ENST00000248444.5	37	c.1573G>A	CCDS2417.1	.	.	.	.	.	.	.	.	.	.	G	8.337	0.827757	0.16749	0.0	1.16E-4	ENSG00000127831	ENST00000248444;ENST00000392114;ENST00000419986	T;T;T	0.21932	1.98;1.98;1.98	4.32	-0.924	0.10462	.	0.552241	0.16675	N	0.204208	T	0.14056	0.0340	L	0.42245	1.32	0.41404	D	0.987699	B	0.19935	0.04	B	0.12156	0.007	T	0.08472	-1.0720	10	0.35671	T	0.21	-1.1485	5.3805	0.16189	0.2965:0.0:0.5747:0.1288	.	525	P09327	VILI_HUMAN	T	525;214;94	ENSP00000248444:A525T;ENSP00000375962:A214T;ENSP00000394030:A94T	ENSP00000248444:A525T	A	+	1	0	VIL1	219007565	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	0.322000	0.19576	-0.438000	0.07232	-0.215000	0.12644	GCC		0.572	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		64	74	0	0	0	0.003610	0	64	74				
ASTN1	460	broad.mit.edu	37	1	176934329	176934329	+	Missense_Mutation	SNP	A	A	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:176934329A>C	ENST00000367654.3	-	9	1803	c.1592T>G	c.(1591-1593)tTg>tGg	p.L531W	ASTN1_ENST00000424564.2_Missense_Mutation_p.L523W|ASTN1_ENST00000361833.2_Missense_Mutation_p.L523W|ASTN1_ENST00000367657.3_Missense_Mutation_p.L523W|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	531					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTGCTCTCCCAAAACCAGGTC	0.423																																						ENST00000367654.2																			0				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						c.(1591-1593)tTg>tGg		astrotactin 1							129.0	134.0	132.0					1																	176934329		2203	4300	6503	SO:0001583	missense	460				cell migration|neuron cell-cell adhesion	integral to membrane		g.chr1:176934329A>C	AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.1592T>G	1.37:g.176934329A>C	ENSP00000356626:p.Leu531Trp					ASTN1_ENST00000367657.3_Missense_Mutation_p.L523W|ASTN1_ENST00000361833.2_Missense_Mutation_p.L523W|ASTN1_ENST00000424564.2_Missense_Mutation_p.L523W|ASTN1_ENST00000281881.3_5'UTR	p.L531W			O14525	ASTN1_HUMAN			9	1605	-			531					A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	ENST00000367654.3	37	c.1592T>G		.	.	.	.	.	.	.	.	.	.	A	20.6	4.021030	0.75275	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.16457	2.34;2.76;2.76;2.34	5.11	5.11	0.69529	.	0.056498	0.64402	D	0.000001	T	0.19604	0.0471	N	0.08118	0	0.47698	D	0.999499	D;D;D	0.61697	0.99;0.99;0.99	P;P;P	0.58873	0.847;0.847;0.785	T	0.18745	-1.0327	10	0.66056	D	0.02	-11.1663	14.8608	0.70379	1.0:0.0:0.0:0.0	.	531;523;523	O14525;O14525-2;B1AJS1	ASTN1_HUMAN;.;.	W	523;523;531;523;523	ENSP00000356629:L523W;ENSP00000354536:L523W;ENSP00000356626:L531W;ENSP00000395041:L523W	ENSP00000354536:L523W	L	-	2	0	ASTN1	175200952	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.427000	0.66483	2.036000	0.60181	0.454000	0.30748	TTG		0.423	ASTN1-201	KNOWN	basic	protein_coding	protein_coding		NM_004319		3	161	0	0	0	0.000248	0	3	161				
DYNC1I2	1781	broad.mit.edu	37	2	172586272	172586272	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:172586272T>C	ENST00000397119.3	+	15	1612	c.1445T>C	c.(1444-1446)aTc>aCc	p.I482T	DYNC1I2_ENST00000409773.1_Missense_Mutation_p.I482T|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.I456T|DYNC1I2_ENST00000534253.2_Missense_Mutation_p.I482T|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.I456T|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.I474T|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.I476T|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.I476T|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.I482T|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.I456T|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.I474T	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	482					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			ATCACTGGCATCCATTGTCAT	0.398																																						ENST00000534253.2																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15						c.(1444-1446)aTc>aCc		dynein, cytoplasmic 1, intermediate chain 2							116.0	113.0	114.0					2																	172586272		1910	4127	6037	SO:0001583	missense	1781				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity	g.chr2:172586272T>C	AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2964	protein-coding gene	gene with protein product		603331	"""dynein, cytoplasmic, intermediate polypeptide 2"""	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.1445T>C	2.37:g.172586272T>C	ENSP00000380308:p.Ile482Thr					DYNC1I2_ENST00000409317.1_Missense_Mutation_p.I476T|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.I456T|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.I482T|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.I476T|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.I474T|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.I456T|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.I482T|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.I482T|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.I474T|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.I456T	p.I482T			Q13409	DC1I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.198)		15	1613	+			482					B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Missense_Mutation	SNP	ENST00000397119.3	37	c.1445T>C	CCDS46450.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.403338	0.83230	.	.	ENSG00000077380	ENST00000340296;ENST00000534253;ENST00000263811;ENST00000397119;ENST00000410079;ENST00000508530;ENST00000409197;ENST00000409317;ENST00000409773;ENST00000409453;ENST00000358002	T;T;T;T;T;T;T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12;-0.12	5.93	5.93	0.95920	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.042149	0.85682	D	0.000000	T	0.78355	0.4270	M	0.82056	2.57	0.80722	D	1	P;P;P;P;P	0.51537	0.457;0.932;0.908;0.946;0.881	B;P;P;P;P	0.60609	0.363;0.833;0.826;0.877;0.833	T	0.79040	-0.1966	10	0.44086	T	0.13	-8.5776	16.3736	0.83374	0.0:0.0:0.0:1.0	.	205;474;456;456;482	B4DX93;B7ZA04;Q13409-6;Q13409-3;Q13409	.;.;.;.;DC1I2_HUMAN	T	456;482;476;482;474;456;456;476;482;482;474	ENSP00000339430:I456T;ENSP00000433791:I482T;ENSP00000263811:I476T;ENSP00000380308:I482T;ENSP00000386522:I474T;ENSP00000423339:I456T;ENSP00000386397:I456T;ENSP00000386591:I476T;ENSP00000386415:I482T;ENSP00000386886:I482T;ENSP00000350692:I474T	ENSP00000263811:I476T	I	+	2	0	DYNC1I2	172294518	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.013000	0.88655	2.273000	0.75805	0.482000	0.46254	ATC		0.398	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333683.2	NM_001378		10	129	0	0	0	0.008291	0	10	129				
HRNR	388697	broad.mit.edu	37	1	152192979	152192979	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:152192979G>A	ENST00000368801.2	-	3	1201	c.1126C>T	c.(1126-1128)Caa>Taa	p.Q376*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	376			Q -> R (in dbSNP:rs6587649).		establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCATGTTGTCCCTGGCTA	0.557																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(1126-1128)Caa>Taa		hornerin																																				SO:0001587	stop_gained	388697				keratinization		calcium ion binding|protein binding	g.chr1:152192979G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1126C>T	1.37:g.152192979G>A	ENSP00000357791:p.Gln376*					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.Q376*	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	1201	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		376		Q -> R (in dbSNP:rs6587649).			Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	c.1126C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	15.96	2.985443	0.53934	.	.	ENSG00000197915	ENST00000368801	.	.	.	4.26	-8.53	0.00916	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	2.3953	0.04388	0.1816:0.1622:0.1526:0.5036	.	.	.	.	X	376	.	ENSP00000357791:Q376X	Q	-	1	0	HRNR	150459603	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.245000	0.01192	-2.966000	0.00288	0.644000	0.83932	CAA		0.557	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		7	208	0	0	0	0.001984	0	7	208				
TGFB2	7042	broad.mit.edu	37	1	218609384	218609384	+	Missense_Mutation	SNP	G	G	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:218609384G>T	ENST00000366930.4	+	5	1294	c.827G>T	c.(826-828)gGg>gTg	p.G276V	TGFB2_ENST00000366929.4_Missense_Mutation_p.G304V|TGFB2_ENST00000479322.1_3'UTR	NM_003238.3	NP_003229.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	276					activation of protein kinase activity (GO:0032147)|angiogenesis (GO:0001525)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cardioblast differentiation (GO:0010002)|cartilage condensation (GO:0001502)|catagen (GO:0042637)|cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|collagen fibril organization (GO:0030199)|dopamine biosynthetic process (GO:0042416)|embryo development (GO:0009790)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|eye development (GO:0001654)|face morphogenesis (GO:0060325)|generation of neurons (GO:0048699)|glial cell migration (GO:0008347)|hair follicle development (GO:0001942)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|hemopoiesis (GO:0030097)|menstrual cycle phase (GO:0022601)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of immune response (GO:0050777)|negative regulation of macrophage cytokine production (GO:0010936)|neuron development (GO:0048666)|neuron fate commitment (GO:0048663)|neutrophil chemotaxis (GO:0030593)|odontogenesis (GO:0042476)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of activation-induced cell death of T cells (GO:0070237)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of catagen (GO:0051795)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of gene expression (GO:0010628)|positive regulation of heart contraction (GO:0045823)|positive regulation of immune response (GO:0050778)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of ossification (GO:0045778)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein secretion (GO:0050714)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein phosphorylation (GO:0006468)|regulation of transforming growth factor beta2 production (GO:0032909)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to progesterone (GO:0032570)|response to wounding (GO:0009611)|salivary gland morphogenesis (GO:0007435)|signal transduction by phosphorylation (GO:0023014)|SMAD protein import into nucleus (GO:0007184)|somatic stem cell division (GO:0048103)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	axon (GO:0030424)|endosome (GO:0005768)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|neuronal cell body (GO:0043025)|platelet alpha granule lumen (GO:0031093)	beta-amyloid binding (GO:0001540)|cytokine activity (GO:0005125)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor binding (GO:0005160)|type II transforming growth factor beta receptor binding (GO:0005114)			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		AAAAACAGTGGGAAGACCCCA	0.448																																						ENST00000366929.4																			0				breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(910-912)gGg>gTg		transforming growth factor, beta 2							85.0	84.0	84.0					1																	218609384		2203	4300	6503	SO:0001583	missense	7042				activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding	g.chr1:218609384G>T	M19154	CCDS1521.1, CCDS44318.1	1q41	2014-01-30			ENSG00000092969	ENSG00000092969		"""Endogenous ligands"""	11768	protein-coding gene	gene with protein product	"""prepro-transforming growth factor beta-2"""	190220					Standard	NM_003238		Approved		uc001hln.3	P61812	OTTHUMG00000039521	ENST00000366930.4:c.827G>T	1.37:g.218609384G>T	ENSP00000355897:p.Gly276Val					TGFB2_ENST00000366930.4_Missense_Mutation_p.G276V|TGFB2_ENST00000479322.1_3'UTR	p.G304V	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN		all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)	6	1378	+			276					B4DKC5|P08112|Q15579|Q15581|Q4VAV9	Missense_Mutation	SNP	ENST00000366930.4	37	c.911G>T	CCDS1521.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768289	0.49680	.	.	ENSG00000092969	ENST00000366930;ENST00000366929	T;T	0.74315	-0.72;-0.83	6.17	6.17	0.99709	.	0.185901	0.56097	D	0.000021	T	0.72162	0.3426	L	0.47716	1.5	0.80722	D	1	B;B	0.13145	0.007;0.005	B;B	0.17979	0.012;0.02	T	0.63479	-0.6628	10	0.37606	T	0.19	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	304;276	P61812-2;P61812	.;TGFB2_HUMAN	V	276;304	ENSP00000355897:G276V;ENSP00000355896:G304V	ENSP00000355896:G304V	G	+	2	0	TGFB2	216676007	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.463000	0.66712	2.941000	0.99782	0.655000	0.94253	GGG		0.448	TGFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095359.2	NM_003238		5	98	1	0	1.23904e-05	0.000602	2.17626e-05	5	98				
PRKCA	5578	broad.mit.edu	37	17	64734916	64734916	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:64734916G>C	ENST00000413366.3	+	11	1291	c.1265G>C	c.(1264-1266)gGt>gCt	p.G422A		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	422	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|chondrocyte differentiation (GO:0002062)|desmosome assembly (GO:0002159)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|histone H3-T6 phosphorylation (GO:0035408)|inactivation of MAPK activity (GO:0000188)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA metabolic process (GO:0016071)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of glucose import (GO:0046325)|negative regulation of insulin receptor signaling pathway (GO:0046627)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|peptidyl-serine autophosphorylation (GO:0036289)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of dense core granule biogenesis (GO:2000707)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein phosphorylation (GO:0001934)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of muscle contraction (GO:0006937)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet aggregation (GO:0090330)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of the force of heart contraction (GO:0002026)|response to interleukin-1 (GO:0070555)|rhodopsin mediated signaling pathway (GO:0016056)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-dependent protein kinase C activity (GO:0004698)|enzyme binding (GO:0019899)|histone kinase activity (H3-T6 specific) (GO:0035403)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Ingenol Mebutate(DB05013)|Phosphatidylserine(DB00144)|Tamoxifen(DB00675)|Vitamin E(DB00163)	TATGTCAACGGTGGGGACCTC	0.453																																						ENST00000413366.3																			0				breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1264-1266)gGt>gCt		protein kinase C, alpha	Phosphatidylserine(DB00144)|Vitamin E(DB00163)						183.0	155.0	164.0					17																	64734916		2203	4300	6503	SO:0001583	missense	5578				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	g.chr17:64734916G>C		CCDS11664.1	17q22-q24	2009-07-10				ENSG00000154229	2.7.11.1		9393	protein-coding gene	gene with protein product		176960		PKCA			Standard	NM_002737		Approved		uc002jfp.1	P17252		ENST00000413366.3:c.1265G>C	17.37:g.64734916G>C	ENSP00000408695:p.Gly422Ala						p.G422A	NM_002737.2	NP_002728.1	P17252	KPCA_HUMAN	BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		11	1291	+			422			Protein kinase.		B5BU22|Q15137|Q32M72|Q96RE4	Missense_Mutation	SNP	ENST00000413366.3	37	c.1265G>C	CCDS11664.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983411	0.93044	.	.	ENSG00000154229	ENST00000413366;ENST00000284384	T	0.31769	1.48	5.8	5.8	0.92144	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66127	0.2758	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.992	T	0.72283	-0.4339	10	0.87932	D	0	.	20.063	0.97692	0.0:0.0:1.0:0.0	.	422;333	P17252;Q59FI5	KPCA_HUMAN;.	A	422;329	ENSP00000408695:G422A	ENSP00000284384:G329A	G	+	2	0	PRKCA	62165378	1.000000	0.71417	0.882000	0.34594	0.852000	0.48524	9.795000	0.99099	2.735000	0.93741	0.655000	0.94253	GGT		0.453	PRKCA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446976.1			3	110	0	0	0	0.000248	0	3	110				
HIST1H1B	3009	broad.mit.edu	37	6	27835109	27835109	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:27835109T>C	ENST00000331442.3	-	1	250	c.199A>G	c.(199-201)Aag>Gag	p.K67E		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	67	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				chromatin organization (GO:0006325)|establishment of protein localization to chromatin (GO:0071169)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|positive regulation of cell growth (GO:0030307)|positive regulation of histone H3-K9 methylation (GO:0051574)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)	chromatin DNA binding (GO:0031490)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCTAAGGCCTTCTTAAGGGCT	0.582																																						ENST00000331442.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(199-201)Aag>Gag		histone cluster 1, H1b							93.0	103.0	100.0					6																	27835109		2203	4300	6503	SO:0001583	missense	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27835109T>C	AF531304	CCDS4635.1	6p22.1	2012-05-04	2006-10-11	2003-02-14	ENSG00000184357	ENSG00000184357		"""Histones / Replication-dependent"""	4719	protein-coding gene	gene with protein product		142711	"""H1 histone family, member 5"", ""histone 1, H1b"""	H1F5		9031620, 9119399, 12408966	Standard	NM_005322		Approved	H1.5, H1b, H1s-3	uc003njx.3	P16401	OTTHUMG00000016139	ENST00000331442.3:c.199A>G	6.37:g.27835109T>C	ENSP00000330074:p.Lys67Glu						p.K67E	NM_005322.2	NP_005313.1	P16401	H15_HUMAN			1	250	-			67			H15.		Q14529|Q3MJ42	Missense_Mutation	SNP	ENST00000331442.3	37	c.199A>G	CCDS4635.1	.	.	.	.	.	.	.	.	.	.	T	16.45	3.127406	0.56721	.	.	ENSG00000184357	ENST00000331442	T	0.40756	1.02	5.43	4.25	0.50352	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.108729	0.64402	D	0.000006	T	0.63965	0.2556	M	0.93328	3.405	0.58432	D	0.999993	D	0.65815	0.995	D	0.73380	0.98	T	0.74247	-0.3727	10	0.87932	D	0	-5.3915	12.106	0.53813	0.0:0.0:0.1437:0.8562	.	67	P16401	H15_HUMAN	E	67	ENSP00000330074:K67E	ENSP00000330074:K67E	K	-	1	0	HIST1H1B	27943088	1.000000	0.71417	0.825000	0.32803	0.001000	0.01503	7.803000	0.85983	0.987000	0.38709	-0.316000	0.08728	AAG		0.582	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	NM_005322		6	218	0	0	0	0.001984	0	6	218				
PTPN14	5784	broad.mit.edu	37	1	214625279	214625279	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:214625279C>G	ENST00000366956.5	-	3	407	c.213G>C	c.(211-213)caG>caC	p.Q71H	PTPN14_ENST00000543945.1_Missense_Mutation_p.Q71H	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	71	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ATCGTGCTTGCTGGCTCTTGC	0.458																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			0				NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(211-213)caG>caC		protein tyrosine phosphatase, non-receptor type 14							100.0	98.0	99.0					1																	214625279		2203	4300	6503	SO:0001583	missense	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214625279C>G	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.213G>C	1.37:g.214625279C>G	ENSP00000355923:p.Gln71His					PTPN14_ENST00000543945.1_Missense_Mutation_p.Q71H	p.Q71H	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	3	407	-			71			FERM.		Q5VSI0	Missense_Mutation	SNP	ENST00000366956.5	37	c.213G>C	CCDS1514.1	.	.	.	.	.	.	.	.	.	.	C	19.40	3.820529	0.71028	.	.	ENSG00000152104	ENST00000366956;ENST00000543945	T;T	0.76448	-1.02;-1.02	5.55	4.64	0.57946	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.124291	0.56097	D	0.000031	T	0.76212	0.3956	N	0.20574	0.59	0.53688	D	0.999979	D	0.60575	0.988	P	0.62298	0.9	T	0.78091	-0.2339	10	0.66056	D	0.02	.	9.7817	0.40651	0.0:0.7861:0.1403:0.0735	.	71	Q15678	PTN14_HUMAN	H	71	ENSP00000355923:Q71H;ENSP00000443330:Q71H	ENSP00000355923:Q71H	Q	-	3	2	PTPN14	212691902	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.986000	0.49370	1.348000	0.45733	0.555000	0.69702	CAG		0.458	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		8	120	0	0	0	0.008291	0	8	120				
KIF16B	55614	broad.mit.edu	37	20	16360692	16360692	+	Missense_Mutation	SNP	C	C	T	rs372163476		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr20:16360692C>T	ENST00000354981.2	-	19	2112	c.1955G>A	c.(1954-1956)cGc>cAc	p.R652H	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.R652H|KIF16B_ENST00000408042.1_Missense_Mutation_p.R652H	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	652	Glu-rich.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTCCTGCTTGCGAATCTGGAG	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16685	0.0		0.0	False		,,,				2504	0.0					ENST00000354981.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						c.(1954-1956)cGc>cAc		kinesin family member 16B		C	HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	129.0	116.0	121.0		1955,1955,1955	5.3	1.0	20		121	0,8600		0,0,4300	no	missense,missense,missense	KIF16B	NM_001199865.1,NM_001199866.1,NM_024704.4	29,29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	652/1267,652/1393,652/1318	16360692	1,13005	2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16360692C>T	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.1955G>A	20.37:g.16360692C>T	ENSP00000347076:p.Arg652His					KIF16B_ENST00000355755.3_Missense_Mutation_p.R652H|KIF16B_ENST00000408042.1_Missense_Mutation_p.R652H|KIF16B_ENST00000378003.2_5'UTR	p.R652H	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN			19	2112	-			652			Glu-rich.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.1955G>A	CCDS13122.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.87|17.87	3.494737|3.494737	0.64186|0.64186	2.27E-4|2.27E-4	0.0|0.0	ENSG00000089177|ENSG00000089177	ENST00000450176|ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	.|T;T;T	.|0.18174	.|2.23;2.23;2.23	5.28|5.28	5.28|5.28	0.74379|0.74379	.|.	.|0.063176	.|0.64402	.|D	.|0.000004	T|T	0.41558|0.41558	0.1164|0.1164	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999	.|D;D;D;P	.|0.68621	.|0.949;0.959;0.949;0.891	T|T	0.09422|0.09422	-1.0675|-1.0675	5|10	.|0.45353	.|T	.|0.12	.|.	19.2754|19.2754	0.94030|0.94030	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|652;652;652;652	.|Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.|.;.;.;KI16B_HUMAN	T|H	87|652	.|ENSP00000347076:R652H;ENSP00000347995:R652H;ENSP00000384164:R652H	.|ENSP00000347076:R652H	A|R	-|-	1|2	0|0	KIF16B|KIF16B	16308692|16308692	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.514000|0.514000	0.34195|0.34195	3.214000|3.214000	0.51161|0.51161	2.630000|2.630000	0.89119|0.89119	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.522	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683		11	181	0	0	0	0.000978	0	11	181				
SPEN	23013	broad.mit.edu	37	1	16258985	16258985	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:16258985A>G	ENST00000375759.3	+	11	6454	c.6250A>G	c.(6250-6252)Agg>Ggg	p.R2084G		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2084					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)			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)		TCGAAACTCCAGGTTAGCAGT	0.512																																						ENST00000375759.3																			0				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						c.(6250-6252)Agg>Ggg		spen family transcriptional repressor							85.0	96.0	92.0					1																	16258985		2194	4296	6490	SO:0001583	missense	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16258985A>G		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.6250A>G	1.37:g.16258985A>G	ENSP00000364912:p.Arg2084Gly						p.R2084G	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		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)	11	6454	+		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)	2084					Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	ENST00000375759.3	37	c.6250A>G	CCDS164.1	.	.	.	.	.	.	.	.	.	.	A	12.85	2.060354	0.36373	.	.	ENSG00000065526	ENST00000375759	T	0.10099	2.91	5.16	2.74	0.32292	.	.	.	.	.	T	0.10252	0.0251	L	0.44542	1.39	0.33014	D	0.527948	P	0.38922	0.651	B	0.35859	0.212	T	0.10753	-1.0616	9	0.48119	T	0.1	-15.3718	11.2725	0.49147	0.7083:0.2916:0.0:0.0	.	2084	Q96T58	MINT_HUMAN	G	2084	ENSP00000364912:R2084G	ENSP00000364912:R2084G	R	+	1	2	SPEN	16131572	1.000000	0.71417	0.403000	0.26384	0.837000	0.47467	5.523000	0.67099	0.265000	0.21872	0.379000	0.24179	AGG		0.512	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		4	206	0	0	0	0.000602	0	4	206				
NDUFS1	4719	broad.mit.edu	37	2	206991481	206991481	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:206991481C>G	ENST00000233190.6	-	17	2238	c.1972G>C	c.(1972-1974)Gat>Cat	p.D658H	NDUFS1_ENST00000432169.1_Missense_Mutation_p.D547H|NDUFS1_ENST00000423725.1_Missense_Mutation_p.D601H|NDUFS1_ENST00000449699.1_Missense_Mutation_p.D658H|NDUFS1_ENST00000455934.2_Missense_Mutation_p.D672H|NDUFS1_ENST00000457011.1_Missense_Mutation_p.D542H|NDUFS1_ENST00000440274.1_Missense_Mutation_p.D622H	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	658					apoptotic mitochondrial changes (GO:0008637)|ATP metabolic process (GO:0046034)|cellular metabolic process (GO:0044237)|cellular respiration (GO:0045333)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial respiratory chain complex I (GO:0005747)	2 iron, 2 sulfur cluster binding (GO:0051537)|4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCTTCAATATCATCATATCGA	0.393																																						ENST00000233190.5																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1972-1974)Gat>Cat		NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						155.0	154.0	154.0					2																	206991481		2203	4300	6503	SO:0001583	missense	4719				apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr2:206991481C>G		CCDS2366.1, CCDS56162.1, CCDS56163.1, CCDS56164.1, CCDS56165.1	2q33-q34	2011-07-04	2002-08-29		ENSG00000023228	ENSG00000023228	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7707	protein-coding gene	gene with protein product	"""complex I 75kDa subunit"", ""NADH-ubiquinone oxidoreductase 75 kDa subunit, mitochondrial"""	157655	"""NADH dehydrogenase (ubiquinone) Fe-S protein 1 (75kD) (NADH-coenzyme Q reductase)"""			1935949	Standard	NM_005006		Approved	CI-75k	uc010ziq.2	P28331	OTTHUMG00000132892	ENST00000233190.6:c.1972G>C	2.37:g.206991481C>G	ENSP00000233190:p.Asp658His					NDUFS1_ENST00000449699.1_Missense_Mutation_p.D658H|NDUFS1_ENST00000440274.1_Missense_Mutation_p.D622H|NDUFS1_ENST00000423725.1_Missense_Mutation_p.D601H|NDUFS1_ENST00000457011.1_Missense_Mutation_p.D542H|NDUFS1_ENST00000455934.2_Missense_Mutation_p.D672H|NDUFS1_ENST00000432169.1_Missense_Mutation_p.D547H	p.D658H	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN			17	2238	-			658					B4DIN9|B4DJA0|B4DPG1|B4DUC1|E7ENF3|Q53TR8|Q8N1C4|Q8TCC9	Missense_Mutation	SNP	ENST00000233190.6	37	c.1972G>C	CCDS2366.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.104414	0.37145	.	.	ENSG00000023228	ENST00000233190;ENST00000423725;ENST00000457011;ENST00000440274;ENST00000455934;ENST00000449699;ENST00000432169	D;D;D;D;D;D;D	0.85258	-1.96;-1.96;-1.96;-1.96;-1.96;-1.96;-1.96	5.8	4.9	0.64082	NADH-quinone oxidoreductase, chain G, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.83677	0.5306	M	0.69823	2.125	0.80722	D	1	B;B;B;B	0.12630	0.002;0.003;0.006;0.006	B;B;B;B	0.21151	0.016;0.03;0.033;0.02	T	0.78375	-0.2228	10	0.13108	T	0.6	-13.5009	16.9862	0.86340	0.0:0.8731:0.1269:0.0	.	547;622;672;658	B4DPG1;E7ENF3;B4DJA0;P28331	.;.;.;NDUS1_HUMAN	H	658;601;542;622;672;658;547	ENSP00000233190:D658H;ENSP00000397760:D601H;ENSP00000400976:D542H;ENSP00000409766:D622H;ENSP00000392709:D672H;ENSP00000399912:D658H;ENSP00000409689:D547H	ENSP00000233190:D658H	D	-	1	0	NDUFS1	206699726	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.780000	0.55386	2.751000	0.94390	0.650000	0.86243	GAT		0.393	NDUFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256391.4	NM_005006		16	161	0	0	0	0.004990	0	16	161				
KRT33B	3884	broad.mit.edu	37	17	39520186	39520186	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:39520186C>T	ENST00000251646.3	-	7	1166	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	373	Tail.				aging (GO:0007568)|hair cycle (GO:0042633)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TTGGTGGTGGCGCAGGGGTTG	0.522																																						ENST00000251646.3																			0				NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21						c.(1117-1119)Gcc>Acc		keratin 33B							124.0	127.0	126.0					17																	39520186		2191	4300	6491	SO:0001583	missense	3884					intermediate filament	protein binding|structural molecule activity	g.chr17:39520186C>T	X82634	CCDS11389.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000131738	ENSG00000131738		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6451	protein-coding gene	gene with protein product	"""hard keratin type I 3II"""	602762	"""keratin, hair, acidic, 3B"""	KRTHA3B		7565656, 16831889	Standard	NM_002279		Approved	Ha-3II	uc002hwl.4	Q14525	OTTHUMG00000133429	ENST00000251646.3:c.1117G>A	17.37:g.39520186C>T	ENSP00000251646:p.Ala373Thr						p.A373T	NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN			7	1166	-		Breast(137;0.000496)	373			Tail.		O76010	Missense_Mutation	SNP	ENST00000251646.3	37	c.1117G>A	CCDS11389.1	.	.	.	.	.	.	.	.	.	.	c	10.56	1.385505	0.25031	.	.	ENSG00000131738	ENST00000251646	D	0.82526	-1.62	5.13	4.17	0.49024	.	0.106561	0.41938	N	0.000789	T	0.78861	0.4350	L	0.61387	1.9	0.30346	N	0.78523	B	0.13594	0.008	B	0.08055	0.003	T	0.74780	-0.3549	10	0.44086	T	0.13	.	9.9288	0.41510	0.0:0.9075:0.0:0.0925	.	373	Q14525	KT33B_HUMAN	T	373	ENSP00000251646:A373T	ENSP00000251646:A373T	A	-	1	0	KRT33B	36773712	0.827000	0.29292	0.997000	0.53966	0.250000	0.25880	1.204000	0.32296	1.525000	0.49052	-0.143000	0.13931	GCC		0.522	KRT33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257292.1	NM_002279		8	113	0	0	0	0.003080	0	8	113				
IKZF1	10320	broad.mit.edu	37	7	50444275	50444275	+	Missense_Mutation	SNP	C	C	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr7:50444275C>T	ENST00000331340.3	+	4	360	c.205C>T	c.(205-207)Cgt>Tgt	p.R69C	IKZF1_ENST00000359197.5_Missense_Mutation_p.R69C|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000349824.4_Missense_Mutation_p.R69C|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000357364.4_Missense_Mutation_p.R69C|IKZF1_ENST00000439701.1_Missense_Mutation_p.R69C|IKZF1_ENST00000440768.2_Missense_Mutation_p.R69C	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	69					B cell differentiation (GO:0030183)|cell cycle (GO:0007049)|chromatin modification (GO:0016568)|forebrain development (GO:0030900)|lymph node development (GO:0048535)|mesoderm development (GO:0007498)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Peyer's patch development (GO:0048541)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neutrophil differentiation (GO:0045660)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retina development in camera-type eye (GO:0060041)|T cell differentiation (GO:0030217)|thymus development (GO:0048538)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AGAGAATGGGCGTGCCTGTGA	0.458			"""D,T"""	BCL6	"""ALL, DLBCL"""																																	ENST00000331340.3				"""Rec,Dom"""	yes		7	7p12.2	10320	"""D,T"""	IKAROS family zinc finger 1			L	BCL6		"""ALL, DLBCL"""		131	Unknown(131)	p.?(131)	haematopoietic_and_lymphoid_tissue(131)	haematopoietic_and_lymphoid_tissue(275)|lung(1)	276						c.(205-207)Cgt>Tgt		IKAROS family zinc finger 1 (Ikaros)							148.0	154.0	152.0					7																	50444275		1975	4161	6136	SO:0001583	missense	10320				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	g.chr7:50444275C>T	U40462	CCDS59055.1, CCDS69299.1, CCDS75596.1, CCDS75597.1	7p12.2	2014-06-12	2006-08-25	2006-08-25	ENSG00000185811	ENSG00000185811		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13176	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 92"""	603023	"""zinc finger protein, subfamily 1A, 1 (Ikaros)"""	ZNFN1A1		1439790, 7935426	Standard	NM_006060		Approved	hIk-1, LyF-1, Hs.54452, IKAROS, PPP1R92	uc003tow.4	Q13422	OTTHUMG00000155907	ENST00000331340.3:c.205C>T	7.37:g.50444275C>T	ENSP00000331614:p.Arg69Cys					IKZF1_ENST00000357364.4_Missense_Mutation_p.R69C|IKZF1_ENST00000440768.2_Missense_Mutation_p.R69C|IKZF1_ENST00000439701.1_Missense_Mutation_p.R69C|IKZF1_ENST00000359197.5_Missense_Mutation_p.R69C|IKZF1_ENST00000343574.5_Intron|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000349824.4_Missense_Mutation_p.R69C	p.R69C	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN			4	360	+	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)	69					A4D260|B4E0Z1|D3DVM5|O00598|Q53XL2|Q69BM4|Q8WVA3	Missense_Mutation	SNP	ENST00000331340.3	37	c.205C>T		.	.	.	.	.	.	.	.	.	.	C	26.5	4.743361	0.89663	.	.	ENSG00000185811	ENST00000359197;ENST00000440768;ENST00000349824;ENST00000357364;ENST00000331340;ENST00000439701	T;T;T;T;T;T	0.07021	3.34;3.23;4.27;3.42;3.29;3.34	4.45	4.45	0.53987	.	0.066667	0.64402	D	0.000009	T	0.23886	0.0578	.	.	.	0.80722	D	1	D;D	0.89917	0.999;1.0	P;P	0.59424	0.857;0.847	T	0.01363	-1.1374	9	0.42905	T	0.14	-14.0566	17.4837	0.87682	0.0:1.0:0.0:0.0	.	69;69	Q13422-7;Q13422	.;IKZF1_HUMAN	C	69	ENSP00000352123:R69C;ENSP00000401507:R69C;ENSP00000342485:R69C;ENSP00000349928:R69C;ENSP00000331614:R69C;ENSP00000413025:R69C	ENSP00000331614:R69C	R	+	1	0	IKZF1	50411769	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.012000	0.70767	2.204000	0.70986	0.313000	0.20887	CGT		0.458	IKZF1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000342242.1	NM_006060		6	173	0	0	0	0.001168	0	6	173				
PPP1R16B	26051	broad.mit.edu	37	20	37547124	37547124	+	Missense_Mutation	SNP	G	G	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr20:37547124G>A	ENST00000299824.1	+	11	1708	c.1519G>A	c.(1519-1521)Gcc>Acc	p.A507T	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A465T	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	507					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CAGCAGCATGGCCAGGACGGG	0.612																																						ENST00000299824.1																			0				biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49						c.(1519-1521)Gcc>Acc		protein phosphatase 1, regulatory subunit 16B							64.0	54.0	58.0					20																	37547124		2203	4300	6503	SO:0001583	missense	26051				regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding	g.chr20:37547124G>A	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1519G>A	20.37:g.37547124G>A	ENSP00000299824:p.Ala507Thr					PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A465T	p.A507T	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN			11	1708	+		Myeloproliferative disorder(115;0.00878)	507					A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	c.1519G>A	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.34|13.34	2.208923|2.208923	0.39003|0.39003	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	T;T|.	0.71103|.	-0.35;-0.54|.	5.35|5.35	-1.5|-1.5	0.08691|0.08691	.|.	0.737333|.	0.13754|.	N|.	0.365064|.	T|.	0.22936|.	0.0554|.	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.001;0.001|.	T|.	0.28554|.	-1.0040|.	10|.	0.35671|.	T|.	0.21|.	.|.	4.2176|4.2176	0.10542|0.10542	0.2739:0.0:0.4803:0.2458|0.2739:0.0:0.4803:0.2458	.|.	465;507|.	E9PFS8;Q96T49|.	.;PP16B_HUMAN|.	T|X	507;465|407	ENSP00000299824:A507T;ENSP00000362428:A465T|.	ENSP00000299824:A507T|.	A|W	+|+	1|3	0|0	PPP1R16B|PPP1R16B	36980538|36980538	0.123000|0.123000	0.22298|0.22298	0.912000|0.912000	0.35992|0.35992	0.995000|0.995000	0.86356|0.86356	0.375000|0.375000	0.20518|0.20518	-0.219000|-0.219000	0.10003|0.10003	-0.136000|-0.136000	0.14681|0.14681	GCC|TGG		0.612	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568		5	68	0	0	0	0.000602	0	5	68				
MAB21L2	10586	broad.mit.edu	37	4	151505024	151505024	+	Missense_Mutation	SNP	G	G	C	rs368334008		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr4:151505024G>C	ENST00000317605.4	+	1	1948	c.843G>C	c.(841-843)gaG>gaC	p.E281D	LRBA_ENST00000507224.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000503716.1_5'Flank|LRBA_ENST00000357115.3_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	281					camera-type eye development (GO:0043010)|embryonic body morphogenesis (GO:0010172)|eye development (GO:0001654)|nervous system development (GO:0007399)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TGCTGTACGAGTGCGAGAAAC	0.627																																						ENST00000317605.4																			0				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21						c.(841-843)gaG>gaC		mab-21-like 2 (C. elegans)							91.0	82.0	85.0					4																	151505024		2203	4300	6503	SO:0001583	missense	10586				nervous system development	nucleus		g.chr4:151505024G>C	AF155219	CCDS3774.1	4q31.3	2013-10-22	2001-11-28		ENSG00000181541	ENSG00000181541			6758	protein-coding gene	gene with protein product		604357	"""mab-21 (C. elegans)-like 2"""				Standard	NM_006439		Approved		uc003ilw.3	Q9Y586	OTTHUMG00000161442	ENST00000317605.4:c.843G>C	4.37:g.151505024G>C	ENSP00000324701:p.Glu281Asp					LRBA_ENST00000507224.1_Intron|LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000357115.3_Intron	p.E281D	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN		GBM - Glioblastoma multiforme(119;0.159)	1	1948	+	all_hematologic(180;0.151)		281					B3KP37|Q9HBA7	Missense_Mutation	SNP	ENST00000317605.4	37	c.843G>C	CCDS3774.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.150864	0.57151	.	.	ENSG00000181541	ENST00000317605	T	0.09817	2.94	5.14	3.4	0.38934	Ricin B lectin (1);	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	M	0.85099	2.735	0.54753	D	0.999983	D	0.89917	1.0	D	0.91635	0.999	T	0.21008	-1.0258	10	0.17369	T	0.5	-21.8938	11.9474	0.52936	0.1437:0.0:0.8563:0.0	.	281	Q9Y586	MB212_HUMAN	D	281	ENSP00000324701:E281D	ENSP00000324701:E281D	E	+	3	2	MAB21L2	151724474	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.882000	0.48546	0.657000	0.30906	-0.379000	0.06801	GAG		0.627	MAB21L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364937.1	NM_006439		7	58	0	0	0	0.006214	0	7	58				
DEFB118	117285	broad.mit.edu	37	20	29956513	29956513	+	Splice_Site	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr20:29956513T>C	ENST00000253381.2	+	1	91		c.e1+2			NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118						cell-matrix adhesion (GO:0007160)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGATCCCAGGTAATCAGAGGT	0.502																																						ENST00000253381.2																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14						c.e1+2		defensin, beta 118							107.0	94.0	98.0					20																	29956513		2203	4300	6503	SO:0001630	splice_region_variant	117285				cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region		g.chr20:29956513T>C	AF347073	CCDS13177.1	20q11.21	2008-02-01	2002-05-09	2002-05-10	ENSG00000131068	ENSG00000131068		"""Defensins, beta"""	16196	protein-coding gene	gene with protein product		607650	"""chromosome 20 open reading frame 63"""	C20orf63		11564719, 15033915	Standard	NM_054112		Approved	dJ1018D12.3, DEFB-18, ESC42	uc002wvr.3	Q96PH6	OTTHUMG00000032161	ENST00000253381.2:c.58+2T>C	20.37:g.29956513T>C								NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)		1	91	+	all_hematologic(12;0.158)							Q17RC4|Q8N691|Q9NUH0	Splice_Site	SNP	ENST00000253381.2	37		CCDS13177.1	.	.	.	.	.	.	.	.	.	.	T	14.41	2.525939	0.44969	.	.	ENSG00000131068	ENST00000253381	.	.	.	4.02	4.02	0.46733	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6139	0.39679	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	DEFB118	29420174	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	2.949000	0.49074	2.051000	0.60960	0.533000	0.62120	.		0.502	DEFB118-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078501.2	NM_054112	Intron	4	180	0	0	0	0.000248	0	4	180				
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)	ENST00000420246.2	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	p.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(1)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(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	GRCh37	CM062017|CM951224	TP53	M	rs28934578	c.(523-525)cGc>cAc	Other conserved DNA damage response genes	tumor protein p53							50.0	50.0	50.0					17																	7578406		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578406C>T	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His	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)				TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H	p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	656	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	175		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	c.524G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		26	55	0	0	0	0.005443	0	26	55				
FSIP2	401024	broad.mit.edu	37	2	186670207	186670207	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:186670207T>C	ENST00000424728.1	+	17	16174	c.16174T>C	c.(16174-16176)Ttc>Ctc	p.F5392L	FSIP2_ENST00000343098.5_Missense_Mutation_p.F5481L			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	5392										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AATATCTGCATTCAGGATTCA	0.378																																						ENST00000343098.5																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						c.(16441-16443)Ttc>Ctc		fibrous sheath interacting protein 2							115.0	105.0	108.0					2																	186670207		1861	4096	5957	SO:0001583	missense	401024							g.chr2:186670207T>C	AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.16174T>C	2.37:g.186670207T>C	ENSP00000401306:p.Phe5392Leu					FSIP2_ENST00000424728.1_Missense_Mutation_p.F5392L	p.F5481L	NM_173651.2	NP_775922.2					17	16441	+								Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	ENST00000424728.1	37	c.16441T>C		.	.	.	.	.	.	.	.	.	.	T	18.91	3.722734	0.68959	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.61859	0.07;0.08	5.28	5.28	0.74379	.	.	.	.	.	T	0.51924	0.1703	L	0.29908	0.895	0.28536	N	0.912329	.	.	.	.	.	.	T	0.51100	-0.8748	7	0.39692	T	0.17	.	11.5286	0.50595	0.0:0.0:0.0:1.0	.	.	.	.	L	5481;5392	ENSP00000344403:F5481L;ENSP00000401306:F5392L	ENSP00000344403:F5481L	F	+	1	0	FSIP2	186378452	1.000000	0.71417	0.997000	0.53966	0.653000	0.38743	3.732000	0.55021	2.218000	0.71995	0.377000	0.23210	TTC		0.378	FSIP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000332778.3	NM_173651		5	125	0	0	0	0.001168	0	5	125				
CSMD3	114788	broad.mit.edu	37	8	113697824	113697824	+	Missense_Mutation	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr8:113697824C>G	ENST00000297405.5	-	15	2537	c.2293G>C	c.(2293-2295)Gac>Cac	p.D765H	CSMD3_ENST00000343508.3_Missense_Mutation_p.D725H|CSMD3_ENST00000352409.3_Missense_Mutation_p.D765H|CSMD3_ENST00000455883.2_Missense_Mutation_p.D661H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	765	CUB 4. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGTCAAAGTCATTGAAAGAA	0.433										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(2293-2295)Gac>Cac		CUB and Sushi multiple domains 3							101.0	107.0	105.0					8																	113697824		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113697824C>G	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.2293G>C	8.37:g.113697824C>G	ENSP00000297405:p.Asp765His	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000455883.2_Missense_Mutation_p.D661H|CSMD3_ENST00000343508.3_Missense_Mutation_p.D725H|CSMD3_ENST00000352409.3_Missense_Mutation_p.D765H	p.D765H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			15	2537	-			765			CUB 4.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.2293G>C	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.704258	0.88924	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.19532	2.14;2.14;2.14;2.14;2.14	5.96	5.96	0.96718	CUB (5);	0.000000	0.85682	D	0.000000	T	0.43523	0.1251	L	0.48877	1.53	0.51233	D	0.999919	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	T	0.04203	-1.0969	10	0.48119	T	0.1	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	661;765;725	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	725;765;105;661;765	ENSP00000345799:D725H;ENSP00000297405:D765H;ENSP00000341558:D105H;ENSP00000412263:D661H;ENSP00000343124:D765H	ENSP00000297405:D765H	D	-	1	0	CSMD3	113767000	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	GAC		0.433	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		6	312	0	0	0	0.003080	0	6	312				
TAF7L	54457	broad.mit.edu	37	X	100530268	100530268	+	Splice_Site	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chrX:100530268T>C	ENST00000372907.3	-	12	1297	c.1286A>G	c.(1285-1287)aAt>aGt	p.N429S	TAF7L_ENST00000356784.1_Splice_Site_p.N343S|TAF7L_ENST00000324762.6_Splice_Site_p.N269S|TAF7L_ENST00000372905.2_Splice_Site_p.N269S	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	429					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CTGAAAATGATTCTGAAAAAT	0.303																																					Ovarian(104;431 1530 3210 15406 18594)	ENST00000372907.3																			0				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.e12-1		TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa							123.0	115.0	118.0					X																	100530268		2203	4300	6503	SO:0001630	splice_region_variant	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100530268T>C	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.1285-1A>G	X.37:g.100530268T>C						TAF7L_ENST00000356784.1_Splice_Site_p.N343_splice|TAF7L_ENST00000324762.6_Splice_Site_p.N269_splice|TAF7L_ENST00000372905.2_Splice_Site_p.N269_splice	p.N429_splice	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN			12	1297	-			429					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Splice_Site	SNP	ENST00000372907.3	37	c.1284_splice	CCDS35347.1	.	.	.	.	.	.	.	.	.	.	T	0.029	-1.348976	0.01266	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.21191	3.77;2.02;2.02;3.77	5.12	-10.2	0.00374	.	0.791890	0.10949	N	0.616276	T	0.10252	0.0251	N	0.17278	0.47	0.09310	N	1	B;B	0.18610	0.029;0.018	B;B	0.16289	0.015;0.005	T	0.32719	-0.9896	10	0.18276	T	0.48	-1.7019	15.9218	0.79583	0.0:0.412:0.4933:0.0947	.	429;269	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	S	429;269;269;343	ENSP00000361998:N429S;ENSP00000361996:N269S;ENSP00000320283:N269S;ENSP00000349235:N343S	ENSP00000320283:N269S	N	-	2	0	TAF7L	100416924	0.001000	0.12720	0.001000	0.08648	0.347000	0.29111	-2.226000	0.01211	-3.574000	0.00139	0.150000	0.16122	AAT		0.303	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2		Missense_Mutation	3	95	0	0	0	0.000248	0	3	95				
USH2A	7399	broad.mit.edu	37	1	215847818	215847818	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:215847818G>C	ENST00000307340.3	-	63	13821	c.13435C>G	c.(13435-13437)Ctt>Gtt	p.L4479V	USH2A_ENST00000366943.2_Missense_Mutation_p.L4479V	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4479	Fibronectin type-III 30. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCCTCCTAAGTTCATAACTT	0.448										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(13435-13437)Ctt>Gtt		Usher syndrome 2A (autosomal recessive, mild)							158.0	159.0	159.0					1																	215847818		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215847818G>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13435C>G	1.37:g.215847818G>C	ENSP00000305941:p.Leu4479Val	HNSCC(13;0.011)				USH2A_ENST00000307340.3_Missense_Mutation_p.L4479V	p.L4479V			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	63	13821	-			4479			Fibronectin type-III 30.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.13435C>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514149	0.27123	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.43294	0.95;0.95	4.41	3.42	0.39159	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.220649	0.22414	U	0.060362	T	0.22437	0.0541	N	0.11789	0.175	0.49299	D	0.999771	B	0.25048	0.117	B	0.25884	0.064	T	0.07578	-1.0765	10	0.05436	T	0.98	.	14.8157	0.70034	0.0:0.1443:0.8556:0.0	.	4479	O75445	USH2A_HUMAN	V	4479	ENSP00000305941:L4479V;ENSP00000355910:L4479V	ENSP00000305941:L4479V	L	-	1	0	USH2A	213914441	1.000000	0.71417	0.972000	0.41901	0.847000	0.48162	3.872000	0.56085	2.159000	0.67721	0.467000	0.42956	CTT		0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		6	296	0	0	0	0.001168	0	6	296				
GEMIN5	25929	broad.mit.edu	37	5	154307077	154307077	+	Silent	SNP	A	A	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr5:154307077A>G	ENST00000285873.7	-	7	1023	c.948T>C	c.(946-948)tcT>tcC	p.S316S		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	316					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCCGTCTCCAAGATTGAGTGA	0.383																																						ENST00000285873.7																			0				breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						c.(946-948)tcT>tcC		gem (nuclear organelle) associated protein 5							130.0	120.0	123.0					5																	154307077		2203	4300	6503	SO:0001819	synonymous_variant	25929				ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding	g.chr5:154307077A>G	AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.948T>C	5.37:g.154307077A>G							p.S316S	NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		7	1023	-	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	316					Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	ENST00000285873.7	37	c.948T>C	CCDS4330.1																																																																																				0.383	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1			3	55	0	0	0	0.000248	0	3	55				
LRRC16A	55604	broad.mit.edu	37	6	25606448	25606448	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:25606448G>C	ENST00000329474.6	+	35	4162	c.3794G>C	c.(3793-3795)aGt>aCt	p.S1265T		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1265					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CCCAAACCCAGTCTGGCAGCA	0.592																																						ENST00000329474.6																			0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(3793-3795)aGt>aCt		leucine rich repeat containing 16A							42.0	49.0	47.0					6																	25606448		1928	4143	6071	SO:0001583	missense	55604				actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus		g.chr6:25606448G>C	AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.3794G>C	6.37:g.25606448G>C	ENSP00000331983:p.Ser1265Thr						p.S1265T	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN			35	4162	+			1265					B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Missense_Mutation	SNP	ENST00000329474.6	37	c.3794G>C	CCDS54973.1	.	.	.	.	.	.	.	.	.	.	G	7.111	0.576056	0.13623	.	.	ENSG00000079691	ENST00000329474;ENST00000399313	T	0.16457	2.34	5.85	-4.9	0.03094	.	0.822297	0.11845	N	0.523953	T	0.05547	0.0146	L	0.44542	1.39	0.54753	D	0.999984	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.40590	-0.9555	10	0.21014	T	0.42	-3.8555	16.2597	0.82535	0.1093:0.596:0.2946:0.0	.	1265;1259;1220	Q5VZK9;B2RTQ5;Q5VZK9-2	LR16A_HUMAN;.;.	T	1265;1220	ENSP00000331983:S1265T	ENSP00000331983:S1265T	S	+	2	0	LRRC16A	25714427	0.987000	0.35691	0.594000	0.28785	0.683000	0.39861	0.116000	0.15561	-0.766000	0.04639	-0.176000	0.13171	AGT		0.592	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2	NM_017640		8	23	0	0	0	0.004482	0	8	23				
BTNL2	56244	broad.mit.edu	37	6	32370727	32370727	+	Missense_Mutation	SNP	C	C	T	rs79379254	byFrequency	TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:32370727C>T	ENST00000374993.1	-	3	693	c.694G>A	c.(694-696)Gtc>Atc	p.V232I	BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000454136.3_Missense_Mutation_p.V232I|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000374995.3_Intron	NM_019602.1	NP_062548.1	Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	232	Ig-like V-type 2.					integral component of membrane (GO:0016021)				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						AGGCTGATGACCGACCCCTTC	0.582																																						ENST00000454136.3																			0				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						c.(694-696)Gtc>Atc		butyrophilin-like 2 (MHC class II associated)							57.0	49.0	52.0					6																	32370727		1510	2709	4219	SO:0001583	missense	56244					integral to membrane		g.chr6:32370727C>T	AF186588		6p21.3	2014-01-14			ENSG00000204290	ENSG00000204290		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1142	protein-coding gene	gene with protein product		606000				10803852, 15735647	Standard	XM_006726138		Approved	HSBLMHC1, BTL-II, BTN7	uc003obg.1	Q9UIR0	OTTHUMG00000031102	ENST00000374993.1:c.694G>A	6.37:g.32370727C>T	ENSP00000364132:p.Val232Ile					BTNL2_ENST00000374993.1_Missense_Mutation_p.V232I|BTNL2_ENST00000414363.1_Intron|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000540315.1_Intron	p.V232I			Q9UIR0	BTNL2_HUMAN			3	698	-			232			Ig-like V-type 2.		A0PJV5|B0UYW9|B0V0N6|O98261|Q08E96|Q58R22|Q58R23|Q5JYF9|Q5MP42|Q5MP43|Q5RIF8|Q5SP08|Q5SP09|Q5SRW3|Q5SRW4|Q5SU36|Q95HK0	Missense_Mutation	SNP	ENST00000374993.1	37	c.694G>A		.	.	.	.	.	.	.	.	.	.	C	9.133	1.011963	0.19277	.	.	ENSG00000204290	ENST00000468270;ENST00000374993	T	0.03607	3.87	4.71	-2.87	0.05700	Immunoglobulin-like (1);	1.938530	0.02348	N	0.075646	T	0.00815	0.0027	N	0.24115	0.695	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.48387	-0.9040	10	0.27082	T	0.32	.	6.0989	0.20035	0.0:0.332:0.1399:0.5281	.	232	Q9UIR0	BTNL2_HUMAN	I	232	ENSP00000364132:V232I	ENSP00000364132:V232I	V	-	1	0	BTNL2	32478705	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.529000	0.00945	-0.757000	0.04697	-0.945000	0.02674	GTC		0.582	BTNL2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_019602		23	22	0	0	0	0.002299	0	23	22				
HIST2H3D	653604	broad.mit.edu	37	1	149785210	149785210	+	Silent	SNP	G	G	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:149785210G>C	ENST00000331491.1	-	1	26	c.27C>G	c.(25-27)cgC>cgG	p.R9R	HIST2H2BF_ENST00000369167.1_5'Flank|HIST2H2BF_ENST00000427880.2_5'Flank|HIST2H2BF_ENST00000469483.1_5'Flank|HIST2H2BF_ENST00000545683.1_5'Flank|RP11-196G18.21_ENST00000420462.1_RNA	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	9					blood coagulation (GO:0007596)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						CGGTCGACTTGCGGGCAGTCT	0.602																																						ENST00000331491.1																			0				biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						c.(25-27)cgC>cgG		histone cluster 2, H3d																																				SO:0001819	synonymous_variant	653604				blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding	g.chr1:149785210G>C	AL591493	CCDS41388.1	1q21.2	2012-03-08	2006-10-11		ENSG00000183598	ENSG00000183598		"""Histones / Replication-dependent"""	25311	protein-coding gene	gene with protein product			"""histone 2, H3d"""				Standard	NM_001123375		Approved		uc010pbl.2	Q71DI3	OTTHUMG00000012092	ENST00000331491.1:c.27C>G	1.37:g.149785210G>C							p.R9R	NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN			1	26	-			9					A2BDF6|A6NFS4|Q6B053	Silent	SNP	ENST00000331491.1	37	c.27C>G	CCDS41388.1																																																																																				0.602	HIST2H3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033452.1	NM_001123375		4	95	0	0	0	0.001168	0	4	95				
SHROOM3	57619	broad.mit.edu	37	4	77660239	77660239	+	Missense_Mutation	SNP	C	C	T	rs367773952		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr4:77660239C>T	ENST00000296043.6	+	5	1866	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	305					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGCAGATATTCGCTATGTCAA	0.577																																						ENST00000296043.6																			0				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60						c.(913-915)Cgc>Tgc		shroom family member 3		C	CYS/ARG	0,4406		0,0,2203	59.0	61.0	60.0		913	5.3	1.0	4		60	1,8599	1.2+/-3.3	0,1,4299	no	missense	SHROOM3	NM_020859.3	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	305/1997	77660239	1,13005	2203	4300	6503	SO:0001583	missense	57619				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding	g.chr4:77660239C>T	AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.913C>T	4.37:g.77660239C>T	ENSP00000296043:p.Arg305Cys						p.R305C	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	Lung(101;0.0903)		5	1866	+			305					Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	ENST00000296043.6	37	c.913C>T	CCDS3579.2	.	.	.	.	.	.	.	.	.	.	C	16.56	3.156669	0.57259	0.0	1.16E-4	ENSG00000138771	ENST00000296043	T	0.52057	0.68	6.17	5.33	0.75918	.	0.240464	0.33591	N	0.004742	T	0.46718	0.1407	M	0.79258	2.445	0.47949	D	0.999551	P;P;P	0.52316	0.952;0.952;0.952	B;B;B	0.38655	0.185;0.278;0.185	T	0.56667	-0.7941	10	0.87932	D	0	-25.6778	10.0711	0.42332	0.2348:0.6978:0.0:0.0674	.	129;305;83	B4E244;Q8TF72;B3KY47	.;SHRM3_HUMAN;.	C	305	ENSP00000296043:R305C	ENSP00000296043:R305C	R	+	1	0	SHROOM3	77879263	0.981000	0.34729	1.000000	0.80357	0.871000	0.50021	3.147000	0.50639	1.626000	0.50381	0.655000	0.94253	CGC		0.577	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252408.2	NM_020859		6	142	0	0	0	0.003080	0	6	142				
DNAH5	1767	broad.mit.edu	37	5	13769245	13769245	+	Splice_Site	SNP	C	C	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr5:13769245C>G	ENST00000265104.4	-	58	9825	c.9721G>C	c.(9721-9723)Gtc>Ctc	p.V3241L	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3241	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTTTTAAGACCTAATTCAAT	0.413									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.e58-1		dynein, axonemal, heavy chain 5							184.0	185.0	185.0					5																	13769245		2203	4300	6503	SO:0001630	splice_region_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13769245C>G	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.9721-1G>C	5.37:g.13769245C>G						DNAH5_ENST00000504001.3_5'UTR	p.V3241_splice	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			58	9825	-	Lung NSC(4;0.00476)		3241			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Splice_Site	SNP	ENST00000265104.4	37	c.9720_splice	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.057168	0.76074	.	.	ENSG00000039139	ENST00000265104	T	0.66099	-0.19	5.76	5.76	0.90799	Dynein heavy chain, coiled coil stalk (1);	0.000000	0.85682	D	0.000000	T	0.57051	0.2027	L	0.41356	1.27	0.80722	D	1	P	0.36465	0.554	B	0.37508	0.252	T	0.50381	-0.8835	10	0.18276	T	0.48	.	20.3242	0.98691	0.0:1.0:0.0:0.0	.	3241	Q8TE73	DYH5_HUMAN	L	3241	ENSP00000265104:V3241L	ENSP00000265104:V3241L	V	-	1	0	DNAH5	13822245	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.639000	0.83342	2.882000	0.98803	0.655000	0.94253	GTC		0.413	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	Missense_Mutation	68	220	0	0	0	0.003610	0	68	220				
PALLD	23022	broad.mit.edu	37	4	169432972	169432972	+	Missense_Mutation	SNP	C	C	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr4:169432972C>A	ENST00000505667.1	+	2	490	c.317C>A	c.(316-318)gCa>gAa	p.A106E	PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000261509.6_Missense_Mutation_p.A106E|PALLD_ENST00000333488.4_5'UTR			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	106					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CAGCCTCTGGCAGAGAAACAA	0.527									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	ENST00000261509.6																			0				breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48						c.(316-318)gCa>gAa		palladin, cytoskeletal associated protein							37.0	42.0	40.0					4																	169432972		2203	4300	6503	SO:0001583	missense	23022	Pancreatic Cancer, Familial Clustering of	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	g.chr4:169432972C>A	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.317C>A	4.37:g.169432972C>A	ENSP00000425556:p.Ala106Glu					PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_5'UTR|PALLD_ENST00000505667.1_Missense_Mutation_p.A106E	p.A106E	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN		GBM - Glioblastoma multiforme(119;0.204)	2	528	+		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)	106					B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	ENST00000505667.1	37	c.317C>A	CCDS54818.1	.	.	.	.	.	.	.	.	.	.	C	13.89	2.372004	0.42003	.	.	ENSG00000129116	ENST00000261509;ENST00000505667;ENST00000508898	T;T;T	0.62788	0.1;0.37;-0.0	5.08	5.08	0.68730	.	1.096260	0.07401	U	0.890876	T	0.50034	0.1592	N	0.22421	0.69	0.80722	D	1	B;B	0.19583	0.037;0.037	B;B	0.18263	0.021;0.021	T	0.20174	-1.0283	10	0.06365	T	0.9	.	16.6247	0.84967	0.0:1.0:0.0:0.0	.	106;106	B7ZMM5;B2RTX2	.;.	E	106;106;85	ENSP00000261509:A106E;ENSP00000425556:A106E;ENSP00000423063:A85E	ENSP00000261509:A106E	A	+	2	0	PALLD	169669547	0.051000	0.20477	0.004000	0.12327	0.033000	0.12548	3.473000	0.53122	2.331000	0.79229	0.591000	0.81541	GCA		0.527	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000363762.1	NM_016081		3	37	1	0	0.004672	0.004672	0.0080008	3	37				
OR2AG1	144125	broad.mit.edu	37	11	6806340	6806340	+	Silent	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr11:6806340T>C	ENST00000307401.4	+	1	93	c.72T>C	c.(70-72)ccT>ccC	p.P24P		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	24						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTGGGTCTCCTGAACTGCTCT	0.498																																						ENST00000307401.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26						c.(70-72)ccT>ccC		olfactory receptor, family 2, subfamily AG, member 1							156.0	150.0	152.0					11																	6806340		2201	4296	6497	SO:0001819	synonymous_variant	144125				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6806340T>C	AB065823	CCDS31414.1	11p15.4	2012-08-09			ENSG00000170803	ENSG00000170803		"""GPCR / Class A : Olfactory receptors"""	15142	protein-coding gene	gene with protein product				OR2AG3			Standard	NM_001004489		Approved		uc001mer.2	Q9H205	OTTHUMG00000165735	ENST00000307401.4:c.72T>C	11.37:g.6806340T>C							p.P24P	NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)	1	93	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)	24					B9EKV7|Q6IFG7|Q96R26	Silent	SNP	ENST00000307401.4	37	c.72T>C	CCDS31414.1																																																																																				0.498	OR2AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385980.1	NM_001004489		8	201	0	0	0	0.006214	0	8	201				
TP53	7157	broad.mit.edu	37	17	7578467	7578467	+	Missense_Mutation	SNP	T	T	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:7578467T>G	ENST00000269305.4	-	5	652	c.463A>C	c.(463-465)Acc>Ccc	p.T155P	TP53_ENST00000413465.2_Missense_Mutation_p.T155P|TP53_ENST00000420246.2_Missense_Mutation_p.T155P|TP53_ENST00000359597.4_Missense_Mutation_p.T155P|TP53_ENST00000455263.2_Missense_Mutation_p.T155P|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.T155P	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	155	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1868473}.|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation; does not induce SNAI1 degradation). {ECO:0000269|PubMed:14660794}.|T -> S (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.T155P(17)|p.T155A(10)|p.0?(8)|p.?(5)|p.P152fs*14(5)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.D148_T155delDSTPPPGT(1)|p.T62P(1)|p.T23P(1)|p.D148fs*23(1)|p.T62A(1)|p.T23A(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.T155fs*15(1)|p.T155_R156delTR(1)|p.T155S(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)	CGGACGCGGGTGCCGGGCGGG	0.612		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		67	Substitution - Missense(32)|Deletion - Frameshift(16)|Whole gene deletion(8)|Deletion - In frame(5)|Unknown(5)|Insertion - Frameshift(1)	p.T155P(17)|p.T155A(10)|p.0?(8)|p.?(5)|p.P152fs*14(5)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.D148_T155delDSTPPPGT(1)|p.T62P(1)|p.T23P(1)|p.D148fs*23(1)|p.T62A(1)|p.T23A(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.T155fs*15(1)|p.T155_R156delTR(1)|p.T155S(1)	lung(18)|ovary(9)|oesophagus(7)|skin(6)|bone(5)|stomach(4)|upper_aerodigestive_tract(3)|central_nervous_system(3)|breast(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|pancreas(2)|urinary_tract(1)|liver(1)|prostate(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						c.(463-465)Acc>Ccc	Other conserved DNA damage response genes	tumor protein p53							50.0	52.0	51.0					17																	7578467		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578467T>G	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.463A>C	17.37:g.7578467T>G	ENSP00000269305:p.Thr155Pro	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)				TP53_ENST00000269305.4_Missense_Mutation_p.T155P|TP53_ENST00000359597.4_Missense_Mutation_p.T155P|TP53_ENST00000413465.2_Missense_Mutation_p.T155P|TP53_ENST00000455263.2_Missense_Mutation_p.T155P|TP53_ENST00000445888.2_Missense_Mutation_p.T155P	p.T155P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	595	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	155		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	c.463A>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	12.45	1.941154	0.34283	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99789	-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75;-6.75	5.59	0.31	0.15825	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.718085	0.14119	N	0.340173	D	0.99483	0.9816	M	0.76328	2.33	0.09310	N	1	D;P;B;D;P;P;D	0.63046	0.989;0.736;0.19;0.976;0.662;0.881;0.992	D;P;B;D;P;P;D	0.67900	0.954;0.743;0.256;0.928;0.833;0.874;0.937	D	0.98829	1.0750	10	0.72032	D	0.01	-6.4954	2.9983	0.06005	0.3258:0.3217:0.0:0.3525	.	116;155;155;62;155;155;155	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	P	155;155;155;155;155;155;144;62;23;62;23;155	ENSP00000410739:T155P;ENSP00000352610:T155P;ENSP00000269305:T155P;ENSP00000398846:T155P;ENSP00000391127:T155P;ENSP00000391478:T155P;ENSP00000425104:T23P;ENSP00000423862:T62P;ENSP00000424104:T155P	ENSP00000269305:T155P	T	-	1	0	TP53	7519192	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.301000	0.08232	0.124000	0.18369	0.533000	0.62120	ACC		0.612	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		42	40	0	0	0	0.003610	0	42	40				
MUC16	94025	broad.mit.edu	37	19	9058537	9058537	+	Missense_Mutation	SNP	A	A	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr19:9058537A>G	ENST00000397910.4	-	3	29112	c.28909T>C	c.(28909-28911)Tca>Cca	p.S9637P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9639	Ser-rich.|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)				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						ATGTCTAGTGACATTGTGGAC	0.498																																						ENST00000397910.4																			0				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						c.(28909-28911)Tca>Cca		mucin 16, cell surface associated							147.0	132.0	137.0					19																	9058537		2020	4171	6191	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9058537A>G	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.28909T>C	19.37:g.9058537A>G	ENSP00000381008:p.Ser9637Pro						p.S9637P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	29112	-			9639			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.28909T>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	8.008	0.756830	0.15846	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	2.82	0.583	0.17417	.	.	.	.	.	T	0.05777	0.0151	L	0.32530	0.975	.	.	.	D	0.65815	0.995	D	0.68943	0.961	T	0.36768	-0.9734	8	0.87932	D	0	.	2.4011	0.04401	0.6195:0.0:0.1427:0.2378	.	9637	B5ME49	.	P	9637	ENSP00000381008:S9637P	ENSP00000381008:S9637P	S	-	1	0	MUC16	8919537	0.000000	0.05858	0.002000	0.10522	0.304000	0.27724	-0.272000	0.08560	0.045000	0.15804	0.254000	0.18369	TCA		0.498	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		4	96	0	0	0	0.000248	0	4	96				
HSPD1	3329	broad.mit.edu	37	2	198361940	198361940	+	Silent	SNP	A	A	G			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:198361940A>G	ENST00000388968.3	-	3	618	c.351T>C	c.(349-351)acT>acC	p.T117T	HSPE1_ENST00000233893.5_5'Flank|HSPD1_ENST00000345042.2_Silent_p.T117T|HSPD1_ENST00000544407.1_Silent_p.T117T|HSPE1_ENST00000409729.1_5'Flank	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	117					'de novo' protein folding (GO:0006458)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|ATP catabolic process (GO:0006200)|B cell activation (GO:0042113)|B cell cytokine production (GO:0002368)|B cell proliferation (GO:0042100)|chaperone-mediated protein complex assembly (GO:0051131)|isotype switching to IgG isotypes (GO:0048291)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of apoptotic process (GO:0043066)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell mediated immune response to tumor cell (GO:0002842)|protein maturation (GO:0051604)|protein refolding (GO:0042026)|protein stabilization (GO:0050821)|response to unfolded protein (GO:0006986)|T cell activation (GO:0042110)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lipopolysaccharide receptor complex (GO:0046696)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|secretory granule (GO:0030141)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|chaperone binding (GO:0051087)|DNA replication origin binding (GO:0003688)|double-stranded RNA binding (GO:0003725)|lipopolysaccharide binding (GO:0001530)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|single-stranded DNA binding (GO:0003697)|unfolded protein binding (GO:0051082)			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			GTGCCAGTACAGTAGCAGTGG	0.423																																						ENST00000388968.3																			0				NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17						c.(349-351)acT>acC		heat shock 60kDa protein 1 (chaperonin)							125.0	116.0	119.0					2																	198361940		2203	4300	6503	SO:0001819	synonymous_variant	3329				'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding	g.chr2:198361940A>G	M34664	CCDS33357.1	2q33.1	2011-09-02	2002-08-29		ENSG00000144381	ENSG00000144381		"""Heat Shock Proteins / Chaperonins"""	5261	protein-coding gene	gene with protein product		118190	"""heat shock 60kD protein 1 (chaperonin)"", ""spastic paraplegia 13 (autosomal dominant)"""	SPG13		1980192, 11898127	Standard	NM_002156		Approved	GROEL, HSP60	uc002uui.3	P10809	OTTHUMG00000154463	ENST00000388968.3:c.351T>C	2.37:g.198361940A>G						HSPD1_ENST00000345042.2_Silent_p.T117T|HSPD1_ENST00000544407.1_Silent_p.T117T	p.T117T	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	Epithelial(96;0.225)		3	618	-			117					B2R5M6|B7Z712|Q38L19|Q9UCR6	Silent	SNP	ENST00000388968.3	37	c.351T>C	CCDS33357.1																																																																																				0.423	HSPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335324.2	NM_002156		4	131	0	0	0	0.000248	0	4	131				
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:45128671T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GCTCACAAAATAAGTTCCAGG	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128671T>G																													17.37:g.45128671T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			3	169	0	0	0	0.004672	0	3	169				
NBEAL1	65065	broad.mit.edu	37	2	204003429	204003429	+	Missense_Mutation	SNP	G	G	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:204003429G>C	ENST00000449802.1	+	30	5052	c.4719G>C	c.(4717-4719)caG>caC	p.Q1573H		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1573										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTCAAATTCAGATCCAGTTGC	0.373																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(4717-4719)caG>caC		neurobeachin-like 1							169.0	166.0	167.0					2																	204003429		1838	4077	5915	SO:0001583	missense	65065						binding	g.chr2:204003429G>C	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.4719G>C	2.37:g.204003429G>C	ENSP00000399903:p.Gln1573His						p.Q1573H	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			30	5052	+			1573					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.4719G>C	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221015	0.58560	.	.	ENSG00000144426	ENST00000449802;ENST00000340268	T	0.54279	0.58	5.24	2.97	0.34412	.	0.883383	0.09917	N	0.738934	T	0.50667	0.1629	L	0.57536	1.79	0.32354	N	0.558063	P;P	0.49961	0.93;0.93	P;P	0.44732	0.459;0.459	T	0.59005	-0.7535	10	0.56958	D	0.05	.	6.9128	0.24344	0.4748:0.0:0.5252:0.0	.	1573;1562	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	H	1573	ENSP00000399903:Q1573H	ENSP00000344985:Q1573H	Q	+	3	2	NBEAL1	203711674	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.555000	0.36277	1.051000	0.40369	0.655000	0.94253	CAG		0.373	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			22	210	0	0	0	0.003330	0	22	210				
GPR116	221395	broad.mit.edu	37	6	46834708	46834708	+	Silent	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:46834708T>C	ENST00000283296.7	-	13	2076	c.1788A>G	c.(1786-1788)ggA>ggG	p.G596G	GPR116_ENST00000545669.1_Silent_p.G25G|GPR116_ENST00000265417.7_Silent_p.G596G|GPR116_ENST00000456426.2_Silent_p.G454G|GPR116_ENST00000362015.4_Silent_p.G596G	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	596					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CTTTGTAGTCTCCATCCTCCT	0.448																																					NSCLC(59;410 1274 8751 36715 50546)	ENST00000283296.7																			0				breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1786-1788)ggA>ggG		G protein-coupled receptor 116							135.0	118.0	124.0					6																	46834708		2203	4300	6503	SO:0001819	synonymous_variant	221395				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:46834708T>C	AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.1788A>G	6.37:g.46834708T>C						GPR116_ENST00000456426.2_Silent_p.G454G|GPR116_ENST00000265417.7_Silent_p.G596G|GPR116_ENST00000362015.4_Silent_p.G596G|GPR116_ENST00000545669.1_Silent_p.G25G	p.G596G	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	Lung(136;0.192)		13	2076	-			596					O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Silent	SNP	ENST00000283296.7	37	c.1788A>G	CCDS4919.1																																																																																				0.448	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040806.2	NM_015234		3	88	0	0	0	0.004672	0	3	88				
DCC	1630	broad.mit.edu	37	18	51025871	51025871	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr18:51025871T>C	ENST00000442544.2	+	27	4718	c.4102T>C	c.(4102-4104)Tct>Cct	p.S1368P	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.S1001P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1368					anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACCACTTTTGTCTCAGCCAGG	0.443																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(4102-4104)Tct>Cct		deleted in colorectal carcinoma							131.0	118.0	122.0					18																	51025871		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:51025871T>C	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.4102T>C	18.37:g.51025871T>C	ENSP00000389140:p.Ser1368Pro					DCC_ENST00000581580.1_Missense_Mutation_p.S1001P|RP11-671P2.1_ENST00000582064.1_RNA	p.S1368P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	27	4718	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	1368						Missense_Mutation	SNP	ENST00000442544.2	37	c.4102T>C	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	T	13.03	2.114284	0.37339	.	.	ENSG00000187323	ENST00000442544	T	0.43688	0.94	6.06	6.06	0.98353	Neogenin, C-terminal (1);	0.077035	0.53938	D	0.000053	T	0.26340	0.0643	N	0.10733	0.035	0.53005	D	0.999965	B	0.14012	0.009	B	0.20384	0.029	T	0.09596	-1.0667	10	0.25106	T	0.35	-10.1546	15.6085	0.76696	0.0:0.0:0.0:1.0	.	1368	P43146	DCC_HUMAN	P	1368	ENSP00000389140:S1368P	ENSP00000389140:S1368P	S	+	1	0	DCC	49279869	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.349000	0.52217	2.327000	0.79052	0.533000	0.62120	TCT		0.443	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		80	109	0	0	0	0.003610	0	80	109				
TIMM21	29090	broad.mit.edu	37	18	71816117	71816117	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr18:71816117T>C	ENST00000169551.6	+	1	372	c.74T>C	c.(73-75)tTg>tCg	p.L25S	FBXO15_ENST00000269500.5_5'Flank|TIMM21_ENST00000580087.1_Missense_Mutation_p.L25S|FBXO15_ENST00000419743.2_5'Flank	NM_014177.2	NP_054896.2	Q9BVV7	TIM21_HUMAN	translocase of inner mitochondrial membrane 21 homolog (yeast)	25					cellular protein metabolic process (GO:0044267)|mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|protein import into mitochondrial matrix (GO:0030150)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane presequence translocase complex (GO:0005744)											CGATTGCTTTTGCCATACATC	0.458																																						ENST00000580087.1																			0											c.(73-75)tTg>tCg		translocase of inner mitochondrial membrane 21 homolog (yeast)							183.0	183.0	183.0					18																	71816117		2203	4300	6503	SO:0001583	missense	29090				protein transport|transmembrane transport	integral to membrane|mitochondrial membrane		g.chr18:71816117T>C	BC000892	CCDS12003.1	18q22.3	2011-11-25	2011-11-25	2011-11-25	ENSG00000075336	ENSG00000075336			25010	protein-coding gene	gene with protein product		615180	"""chromosome 18 open reading frame 55"""	C18orf55		11042152	Standard	NM_014177		Approved	HSPC154, TIM21	uc010dqr.1	Q9BVV7	OTTHUMG00000132844	ENST00000169551.6:c.74T>C	18.37:g.71816117T>C	ENSP00000169551:p.Leu25Ser					TIMM21_ENST00000169551.6_Missense_Mutation_p.L25S	p.L25S			Q9BVV7	TI21L_HUMAN			1	360	+			25					Q9P010	Missense_Mutation	SNP	ENST00000169551.6	37	c.74T>C	CCDS12003.1	.	.	.	.	.	.	.	.	.	.	T	9.966	1.224023	0.22457	.	.	ENSG00000075336	ENST00000169551	T	0.61742	0.08	4.74	-8.61	0.00885	.	1.614300	0.03885	N	0.277755	T	0.44008	0.1273	L	0.60455	1.87	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.30563	-0.9974	10	0.08179	T	0.78	0.3035	7.9711	0.30127	0.0:0.3909:0.3685:0.2407	.	25	Q9BVV7	TI21L_HUMAN	S	25	ENSP00000169551:L25S	ENSP00000169551:L25S	L	+	2	0	C18orf55	69967097	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.758000	0.04766	-1.553000	0.01702	-0.263000	0.10527	TTG		0.458	TIMM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256318.1	NM_014177		11	309	0	0	0	0.008291	0	11	309				
ANKHD1	54882	broad.mit.edu	37	5	139866584	139866584	+	Silent	SNP	T	T	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr5:139866584T>A	ENST00000360839.2	+	14	2338	c.2184T>A	c.(2182-2184)ccT>ccA	p.P728P	ANKHD1_ENST00000297183.6_Silent_p.P728P|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.P728P	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	728						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTTGTACCTCCCCAGGAAC	0.403																																						ENST00000297183.6																			0				breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60						c.(2182-2184)ccT>ccA		ankyrin repeat and KH domain containing 1							88.0	82.0	84.0					5																	139866584		2203	4300	6503	SO:0001819	synonymous_variant	54882							g.chr5:139866584T>A	AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.2184T>A	5.37:g.139866584T>A						ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.P728P|ANKHD1_ENST00000360839.2_Silent_p.P728P	p.P728P	NM_020690.5	NP_065741.3			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		14	2308	+								A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Silent	SNP	ENST00000360839.2	37	c.2184T>A	CCDS4225.1																																																																																				0.403	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000251672.1	NM_017747		4	63	0	0	0	0.000602	0	4	63				
CLIC1	1192	broad.mit.edu	37	6	31698750	31698750	+	Missense_Mutation	SNP	T	T	C			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:31698750T>C	ENST00000375780.2	-	7	1167	c.595A>G	c.(595-597)Atc>Gtc	p.I199V	CLIC1_ENST00000395892.1_Missense_Mutation_p.I199V|DDAH2_ENST00000375792.3_5'Flank|CLIC1_ENST00000375784.3_Missense_Mutation_p.I199V|DDAH2_ENST00000375789.2_5'Flank|DDAH2_ENST00000375787.2_5'Flank|CLIC1_ENST00000375779.2_Missense_Mutation_p.I199V|DDAH2_ENST00000480913.1_5'Flank			O00299	CLIC1_HUMAN	chloride intracellular channel 1	199	GST C-terminal.				chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|platelet aggregation (GO:0070527)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of mitochondrial membrane potential (GO:0051881)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|brush border (GO:0005903)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GCCTCGGGGATGGTGAATCCC	0.582																																						ENST00000375780.2																			0				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						c.(595-597)Atc>Gtc		chloride intracellular channel 1							58.0	44.0	49.0					6																	31698750		1511	2709	4220	SO:0001583	missense	1192				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity	g.chr6:31698750T>C	U93205	CCDS4719.1	6p21.3	2012-09-26			ENSG00000213719	ENSG00000213719		"""Ion channels / Chloride channels : Intracellular"""	2062	protein-coding gene	gene with protein product		602872				9139710	Standard	NM_001288		Approved	NCC27, p64CLCP	uc003nwr.3	O00299	OTTHUMG00000031103	ENST00000375780.2:c.595A>G	6.37:g.31698750T>C	ENSP00000364935:p.Ile199Val					CLIC1_ENST00000375779.2_Missense_Mutation_p.I199V|CLIC1_ENST00000395892.1_Missense_Mutation_p.I199V|CLIC1_ENST00000375784.3_Missense_Mutation_p.I199V	p.I199V			O00299	CLIC1_HUMAN			7	1167	-			199			GST C-terminal.		Q15089|Q502X1	Missense_Mutation	SNP	ENST00000375780.2	37	c.595A>G	CCDS4719.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.469627	0.84533	.	.	ENSG00000213719	ENST00000375784;ENST00000375779;ENST00000375780;ENST00000395892	D;D;D;D	0.94576	-3.46;-3.46;-3.46;-3.46	4.77	4.77	0.60923	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.64402	U	0.000002	D	0.92309	0.7560	L	0.51914	1.62	0.80722	D	1	P	0.48911	0.917	P	0.51974	0.686	D	0.91579	0.5277	10	0.37606	T	0.19	-16.1976	12.28	0.54759	0.0:0.0:0.0:1.0	.	199	O00299	CLIC1_HUMAN	V	199	ENSP00000364940:I199V;ENSP00000364934:I199V;ENSP00000364935:I199V;ENSP00000379229:I199V	ENSP00000364934:I199V	I	-	1	0	CLIC1	31806729	1.000000	0.71417	1.000000	0.80357	0.779000	0.44077	3.761000	0.55242	2.003000	0.58678	0.533000	0.62120	ATC		0.582	CLIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076167.3	NM_001288		20	35	0	0	0	0.007413	0	20	35				
CD163	9332	broad.mit.edu	37	12	7649700	7649700	+	Missense_Mutation	SNP	C	C	A	rs186559442		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr12:7649700C>A	ENST00000359156.4	-	5	1010	c.808G>T	c.(808-810)Gat>Tat	p.D270Y	CD163_ENST00000396620.3_Missense_Mutation_p.D270Y|CD163_ENST00000541972.1_Missense_Mutation_p.D258Y|CD163_ENST00000432237.2_Missense_Mutation_p.D270Y	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	270	SRCR 3. {ECO:0000255|PROSITE- ProRule:PRU00196}.	Cleavage; in calcium-free condition.			acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	GTGACTCCATCTACCAGTCTC	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.0					ENST00000359156.4																			0				breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(808-810)Gat>Tat		CD163 molecule							171.0	143.0	153.0					12																	7649700		2203	4300	6503	SO:0001583	missense	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7649700C>A	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.808G>T	12.37:g.7649700C>A	ENSP00000352071:p.Asp270Tyr					CD163_ENST00000396620.3_Missense_Mutation_p.D270Y|CD163_ENST00000541972.1_Missense_Mutation_p.D258Y|CD163_ENST00000432237.2_Missense_Mutation_p.D270Y	p.D270Y	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN			5	1010	-			270			SRCR 3.	Cleavage; in calcium-free condition.	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Missense_Mutation	SNP	ENST00000359156.4	37	c.808G>T	CCDS8578.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	14.00	2.403709	0.42613	.	.	ENSG00000177575	ENST00000359156;ENST00000541972;ENST00000396620;ENST00000432237	T;T;T;T	0.32515	1.45;1.45;1.45;1.45	4.9	4.9	0.64082	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.492803	0.21369	N	0.075674	T	0.50752	0.1634	M	0.75150	2.29	0.21256	N	0.999748	D;P;D	0.58970	0.984;0.892;0.966	D;P;P	0.64506	0.926;0.591;0.8	T	0.45760	-0.9239	10	0.72032	D	0.01	.	9.5724	0.39436	0.0:0.903:0.0:0.097	.	270;270;270	C9JHR8;Q86VB7-3;Q86VB7	.;.;C163A_HUMAN	Y	270;258;270;270	ENSP00000352071:D270Y;ENSP00000444071:D258Y;ENSP00000379863:D270Y;ENSP00000403885:D270Y	ENSP00000352071:D270Y	D	-	1	0	CD163	7540967	0.000000	0.05858	0.202000	0.23494	0.547000	0.35210	0.226000	0.17776	2.433000	0.82419	0.462000	0.41574	GAT		0.468	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416		7	141	1	0	5.18039e-06	0.003080	9.21706e-06	7	141				
OR2T7	81458	broad.mit.edu	37	1	248604559	248604560	+	Frame_Shift_Ins	INS	-	-	TC	rs58223479|rs150497047|rs397951667	byFrequency	TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:248604559_248604560insTC	ENST00000460972.3	+	1	52_53	c.52_53insTC	c.(52-54)ttcfs	p.F18fs				P0C7T2	OR2T7_HUMAN	olfactory receptor, family 2, subfamily T, member 7	18						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										TTCCCCTGGCTTCTTTGCCCTC	0.515														2957	0.590455	0.5499	0.6398	5008	,	,		5805	0.626		0.5865	False		,,,				2504	0.5777					ENST00000460972.3																			0											c.(52-54)cttfs		olfactory receptor, family 2, subfamily T, member 7																																				SO:0001589	frameshift_variant	81458							g.chr1:248604559_248604560insTC			1q44	2013-09-05		2004-03-10	ENSG00000227152	ENSG00000227152		"""GPCR / Class A : Olfactory receptors"""	15019	protein-coding gene	gene with protein product				OR2T7P			Standard	NG_004272		Approved	OST723		P0C7T2	OTTHUMG00000040449	ENST00000460972.3:c.53_54dupTC	1.37:g.248604560_248604561dupTC	ENSP00000475521:p.Phe18fs						p.L18fs							1	52_53	+									Frame_Shift_Ins	INS	ENST00000460972.3	37	c.52_53insTC																																																																																					0.515	OR2T7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000097345.3			3	5						3	5	---	---	---	---
LINC00971	440970	broad.mit.edu	37	3	84741480	84741480	+	lincRNA	DEL	A	A	-	rs71104976		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr3:84741480delA	ENST00000484892.1	-	0	2354					NR_033860.1				long intergenic non-protein coding RNA 971																		CCTGTCCCAGAAAAAAAAAAA	0.388																																						ENST00000484892.1																			0																																																			0							g.chr3:84741480delA			3p12.1	2013-06-07			ENSG00000242641	ENSG00000242641		"""Long non-coding RNAs"""	48737	non-coding RNA	RNA, long non-coding							Standard	NR_033860		Approved				OTTHUMG00000158981		3.37:g.84741480delA								NR_033860.1						0	2354	-									RNA	DEL	ENST00000484892.1	37																																																																																						0.388	LINC00971-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000352776.2			3	4						3	4	---	---	---	---
TAPT1-AS1	202020	broad.mit.edu	37	4	16257860	16257860	+	RNA	DEL	T	T	-	rs397691726|rs60066752	byFrequency	TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr4:16257860delT	ENST00000570786.1	+	0	234				TAPT1-AS1_ENST00000573308.1_RNA|TAPT1-AS1_ENST00000573950.1_RNA	NR_027696.1				TAPT1 antisense RNA 1 (head to head)																		AGGGTTTGTCTTTTTTTTTTT	0.383													|||unknown(HR)	1863	0.372005	0.3366	0.4049	5008	,	,		17785	0.3661		0.4056	False		,,,				2504	0.3681					ENST00000570786.1																			0																																																			0							g.chr4:16257860delT			4p15.32	2012-11-06	2012-11-06		ENSG00000263327	ENSG00000263327		"""Long non-coding RNAs"""	26832	non-coding RNA	RNA, long non-coding							Standard	NR_027696		Approved	FLJ39653			OTTHUMG00000160321		4.37:g.16257860delT						TAPT1-AS1_ENST00000573950.1_RNA|TAPT1-AS1_ENST00000573308.1_RNA		NR_027696.1						0	234	+									RNA	DEL	ENST00000570786.1	37																																																																																						0.383	TAPT1-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000439459.1	NR_027696		3	6						3	6	---	---	---	---
PRR27	401137	broad.mit.edu	37	4	71024317	71024318	+	Frame_Shift_Ins	INS	-	-	T	rs148239542		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr4:71024317_71024318insT	ENST00000344526.5	+	3	537_538	c.348_349insT	c.(349-351)tttfs	p.F117fs	C4orf40_ENST00000502294.1_Frame_Shift_Ins_p.F117fs|C4orf40_ENST00000502441.2_3'UTR	NM_214711.3	NP_999876.2	Q6MZM9	PRR27_HUMAN		117	Ala/Pro-rich.					extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTCCTTCAAGGTTTTTTTCAGC	0.55																																						ENST00000344526.5																			0				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(346-351)agttttfs		chromosome 4 open reading frame 40																																				SO:0001589	frameshift_variant	401137					extracellular region		g.chr4:71024317_71024318insT																												ENST00000344526.5:c.355dupT	4.37:g.71024324_71024324dupT	ENSP00000343172:p.Phe117fs					C4orf40_ENST00000502441.2_3'UTR|C4orf40_ENST00000502294.1_Frame_Shift_Ins_p.SF116fs	p.SF116fs	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN			3	537_538	+			116					A8MXP0|Q6MZR6	Frame_Shift_Ins	INS	ENST00000344526.5	37	c.348_349insT	CCDS3535.1																																																																																				0.550	C4orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251558.1			8	378						8	378	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113326251	113326252	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr8:113326251_113326252insA	ENST00000297405.5	-	49	7823_7824	c.7579_7580insT	c.(7579-7581)tccfs	p.S2527fs	CSMD3_ENST00000343508.3_Frame_Shift_Ins_p.S2487fs|CSMD3_ENST00000352409.3_Frame_Shift_Ins_p.S2457fs|CSMD3_ENST00000455883.2_Frame_Shift_Ins_p.S2423fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2527	CUB 14. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCCACTGAGGGAAATAAGCACT	0.317										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(7579-7581)cctfs		CUB and Sushi multiple domains 3																																				SO:0001589	frameshift_variant	114788					integral to membrane|plasma membrane		g.chr8:113326251_113326252insA	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7580dupT	8.37:g.113326254_113326254dupA	ENSP00000297405:p.Ser2527fs	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000352409.3_Frame_Shift_Ins_p.P2457fs|CSMD3_ENST00000343508.3_Frame_Shift_Ins_p.P2487fs|CSMD3_ENST00000455883.2_Frame_Shift_Ins_p.P2423fs	p.P2527fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			49	7823_7824	-			2527			CUB 14.		Q96PZ3	Frame_Shift_Ins	INS	ENST00000297405.5	37	c.7579_7580insT	CCDS6315.1																																																																																				0.317	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		11	259						11	259	---	---	---	---
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-	rs200468982	byFrequency	TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gctggggacaggatggcaggagcg>gcg	p.36_43AGDRMAGA>A	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588																																						ENST00000448048.2																			1	Deletion - In frame(1)	p.G37_A43delGDRMAGA(1)	central_nervous_system(1)	central_nervous_system(1)|lung(1)|ovary(1)	3						c.(106-129)gcg>gc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 4				0,6		0,0,3						-2.8	0.0			1	28,40		13,2,19	no	coding	AGAP4	NM_133446.2		13,2,22	A1A1,A1R,RR		41.1765,0.0,37.8378				28,46				SO:0001651	inframe_deletion	119016				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23459	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 1"", ""ArfGAP with GTPase domain, ankyrin repeat and PH domain 8"", ""centaurin, gamma-like family, member 5"""	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.108_128delTGGGGACAGGATGGCAGGAGC	10.37:g.46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENSP00000392513:p.Ala36_Gly42del					AGAP4_ENST00000430779.2_5'UTR	p.AGDRMAGA36del	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN			1	233_253	-			36						In_Frame_Del	DEL	ENST00000448048.2	37	c.108_128delTGGGGACAGGATGGCAGGAGC	CCDS7215.1																																																																																				0.588	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	NM_133446		5	8						5	8	---	---	---	---
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	AGC	-	rs141441894	byFrequency	TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr19:43969653_43969655delAGC	ENST00000244333.3	-	1	157_159	c.69_71delGCT	c.(67-72)ctgctt>ctt	p.23_24LL>L		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	23					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675																																						ENST00000244333.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11						c.(67-72)ctt>ct		LY6/PLAUR domain containing 3																																				SO:0001651	inframe_deletion	27076					anchored to plasma membrane		g.chr19:43969653_43969655delAGC	AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.69_71delGCT	19.37:g.43969662_43969664delAGC	ENSP00000244333:p.Leu24del						p.LL23del	NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN			1	157_159	-		Prostate(69;0.0153)	23					Q9UJ74	In_Frame_Del	DEL	ENST00000244333.3	37	c.69_71delGCT	CCDS12620.1																																																																																				0.675	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400		7	180						7	180	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76919037	76919038	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chrX:76919037_76919038insT	ENST00000373344.5	-	12	4167_4168	c.3953_3954insA	c.(3952-3954)aatfs	p.N1318fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.N1280fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1318	Interaction with DAXX.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						AATTGACTTGATTTTTTGCTTC	0.351			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(3952-3954)acafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76919037_76919038insT	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.3954dupA	X.37:g.76919043_76919043dupT	ENSP00000362441:p.Asn1318fs					ATRX_ENST00000395603.3_Frame_Shift_Ins_p.T1280fs|ATRX_ENST00000480283.1_5'UTR	p.T1318fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			12	4167_4168	-			1318					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Ins	INS	ENST00000373344.5	37	c.3953_3954insA	CCDS14434.1																																																																																				0.351	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		21	3						21	3	---	---	---	---
