#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_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000396053.4_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																						ENST00000412278.2		NA																	0					NA						c.(781-801)gctgctgctgcagcagcagccdel																																						SO:0001651	inframe_deletion	0							g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del	True	False		Somatic	1				RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000530235.1_Intron	p.AAAAAAA261del	NM_001198845.1	NP_001185774.1	WXS	Illumina HiSeq	Phase_I					2	876_896	+			NA					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.781_801delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	0	NM_002896		11:66411364
CADM1	23705	broad.mit.edu	37	11	115080341	115080346	+	In_Frame_Del	DEL	GTGGTT	GTGGTT	-	rs148111993	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	GTGGTT	GTGGTT	-	-	GTGGTT	GTGGTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:115080341_115080346delGTGGTT	ENST00000452722.3	-	8	1046_1051	c.1026_1031delAACCAC	c.(1024-1032)acaaccacc>acc	p.342_344TTT>T	CADM1_ENST00000537058.1_In_Frame_Del_p.342_344TTT>T|CADM1_ENST00000331581.6_In_Frame_Del_p.342_344TTT>T|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron	NM_014333.3	NP_055148.3			cell adhesion molecule 1									p.T343T(5)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		ggtggtggtggtggttgttgtggGAG	0.432																																						ENST00000537058.1		NA																	5	Substitution - coding silent(5)	p.T343T(5)	kidney(3)|lung(2)	cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32						c.(1024-1032)acaaccacc>acc		cell adhesion molecule 1																																				SO:0001651	inframe_deletion	23705				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding	g.chr11:115080341_115080346delGTGGTT	AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1026_1031delAACCAC	11.37:g.115080341_115080346delGTGGTT	ENSP00000395359:p.Thr352_Thr353del	True	False		Somatic	1				CADM1_ENST00000331581.6_In_Frame_Del_p.342_344TTT>T|CADM1_ENST00000452722.2_In_Frame_Del_p.342_344TTT>T|CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Intron|CADM1_ENST00000542447.2_Intron	p.342_344TTT>T			WXS	Illumina HiSeq	Phase_I	Q9BY67	CADM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)	8	1046_1051	-	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)	342	PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).					In_Frame_Del	DEL	ENST00000452722.3	37	c.1026_1031delAACCAC	CCDS8373.1																																																																																				0.432	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	0	NM_014333		11:115080341
ITPR2	3709	broad.mit.edu	37	12	26809320	26809321	+	Frame_Shift_Ins	INS	-	-	T	rs374341078		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:26809320_26809321insT	ENST00000381340.3	-	19	2769_2770	c.2353_2354insA	c.(2353-2355)atgfs	p.M785fs		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	785					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GTCAACGTGCATGTGGAGCATG	0.554																																						ENST00000381340.3		NA																ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(2353-2355)atgfs		inositol 1,4,5-trisphosphate receptor, type 2																																				SO:0001589	frameshift_variant	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26809320_26809321insT	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.2354dupA	12.37:g.26809321_26809321dupT	ENSP00000370744:p.Met785fs	False	False		Somatic	1					p.M785fs	NM_002223.2	NP_002214.2	WXS	Illumina HiSeq	Phase_I	Q14571	ITPR2_HUMAN			19	2769_2770	-	Colorectal(261;0.0847)		785					O94773	Frame_Shift_Ins	INS	ENST00000381340.3	37	c.2353_2354insA	CCDS41764.1																																																																																				0.554	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	0	NM_002223		12:26809320
MPHOSPH8	54737	broad.mit.edu	37	13	20222662	20222663	+	Splice_Site	INS	-	-	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:20222662_20222663insT	ENST00000361479.5	+	4	1386		c.e4+1		MPHOSPH8_ENST00000414242.2_Splice_Site	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8						negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GGATTAAAGAGTGAGTGTAAAT	0.272																																						ENST00000361479.5		NA																	0				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.e4+1		M-phase phosphoprotein 8																																				SO:0001630	splice_region_variant	54737				cell cycle	cytoplasm|nucleus		g.chr13:20222662_20222663insT	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1318+1->T	13.37:g.20222663_20222663dupT		True	False		Somatic	1				MPHOSPH8_ENST00000414242.2_Splice_Site		NM_017520.3	NP_059990.2	WXS	Illumina HiSeq	Phase_I	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	4	1386	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	NA					B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Splice_Site	INS	ENST00000361479.5	37		CCDS9287.1																																																																																				0.272	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	0	NM_017520	Intron	13:20222662
TRPC4	7223	broad.mit.edu	37	13	38320594	38320594	+	Splice_Site	DEL	T	T	-	rs80164537|rs398022380|rs564949226|rs541836095|rs35278654	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:38320594delT	ENST00000379705.3	-	3	1236		c.e3-2		TRPC4_ENST00000379681.3_Splice_Site|TRPC4_ENST00000426868.2_Splice_Site|TRPC4_ENST00000447043.1_Splice_Site|TRPC4_ENST00000379673.2_Splice_Site|TRPC4_ENST00000355779.2_Splice_Site|TRPC4_ENST00000358477.2_Splice_Site|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000338947.5_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4						axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|gamma-aminobutyric acid secretion (GO:0014051)|ion transmembrane transport (GO:0034220)|oligodendrocyte differentiation (GO:0048709)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|calcium channel complex (GO:0034704)|caveola (GO:0005901)|cell surface (GO:0009986)|cortical cytoskeleton (GO:0030863)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		AGGAGGCACCTAAAAAAAAAA	0.338																																						ENST00000379705.3		NA																	0				NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83						c.e3-2		transient receptor potential cation channel, subfamily C, member 4							53.0	65.0	61.0					13																	38320594		2107	4168	6275	SO:0001630	splice_region_variant	7223				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity	g.chr13:38320594delT	U40983	CCDS9365.1, CCDS45035.1, CCDS45036.1, CCDS45038.1, CCDS45039.1	13q13.3	2013-01-10			ENSG00000133107	ENSG00000133107		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	12336	protein-coding gene	gene with protein product		603651				8646775, 16382100	Standard	NM_016179		Approved	HTRP4, TRP4	uc010abx.3	Q9UBN4	OTTHUMG00000016752	ENST00000379705.3:c.379-2A>-	13.37:g.38320594delT		True	False		Somatic	1				TRPC4_ENST00000355779.2_Splice_Site|TRPC4_ENST00000379679.1_Intron|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379673.2_Splice_Site|TRPC4_ENST00000426868.2_Splice_Site|TRPC4_ENST00000358477.2_Splice_Site|TRPC4_ENST00000379681.3_Splice_Site|TRPC4_ENST00000447043.1_Splice_Site				WXS	Illumina HiSeq	Phase_I	Q9UBN4	TRPC4_HUMAN		all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)	3	1236	-			NA					B1ALE0|B1ALE1|B1ALE2|Q15721|Q3SWS6|Q96P03|Q96P04|Q96P05|Q9UIB0|Q9UIB1|Q9UIB2	Splice_Site	DEL	ENST00000379705.3	37		CCDS9365.1																																																																																				0.338	TRPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044574.2	0	NM_003306	Intron	13:38320594
NYNRIN	57523	broad.mit.edu	37	14	24868592	24868593	+	Frame_Shift_Del	DEL	AC	AC	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	AC	AC	-	-	AC	AC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr14:24868592_24868593delAC	ENST00000382554.3	+	2	458_459	c.140_141delAC	c.(139-141)gacfs	p.D47fs		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	47					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGCCGCCCGGACACCCCCTACT	0.604																																						ENST00000382554.3		NA																	0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(139-141)gacfs		NYN domain and retroviral integrase containing																																				SO:0001589	frameshift_variant	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24868592_24868593delAC	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.140_141delAC	14.37:g.24868594_24868595delAC	ENSP00000371994:p.Asp47fs	False	False		Somatic	2					p.D47fs	NM_025081.2	NP_079357.2	WXS	Illumina HiSeq	Phase_I	Q9P2P1	NYNRI_HUMAN			2	458_459	+			47					Q6P153|Q86TR3|Q9HAC4	Frame_Shift_Del	DEL	ENST00000382554.3	37	c.140_141delAC	CCDS45090.1																																																																																				0.604	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1	0			14:24868592
ADAM21	8747	broad.mit.edu	37	14	70924869	70924871	+	In_Frame_Del	DEL	ATG	ATG	-	rs141326765		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	ATG	ATG	-	-	ATG	ATG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr14:70924869_70924871delATG	ENST00000603540.1	+	2	911_913	c.653_655delATG	c.(652-657)catgat>cat	p.D219del	ADAM21_ENST00000267499.3_In_Frame_Del_p.D219del|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	219	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GTGGTGAACCATGATTTCTTCAT	0.414																																						ENST00000603540.1		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31						c.(652-657)catgat>cat		ADAM metallopeptidase domain 21																																				SO:0001651	inframe_deletion	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70924869_70924871delATG	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.653_655delATG	14.37:g.70924869_70924871delATG	ENSP00000474385:p.Asp219del	False	False		Somatic	1				ADAM21_ENST00000267499.3_In_Frame_Del_p.D219del|RP11-486O13.4_ENST00000556646.1_lincRNA	p.D219del	NM_003813.3	NP_003804.2	WXS	Illumina HiSeq	Phase_I	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	2	911_913	+			219			Peptidase M12B.		O43507|Q2VPC6|Q32MR0	In_Frame_Del	DEL	ENST00000603540.1	37	c.653_655delATG	CCDS9804.1																																																																																				0.414	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3	0			14:70924869
RNF43	54894	broad.mit.edu	37	17	56492911	56492942	+	Start_Codon_Del	DEL	CCAGCTGCAGCTGGTGGCCACCACTCATGCTA	CCAGCTGCAGCTGGTGGCCACCACTCATGCTA	-	rs149183435		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	CCAGCTGCAGCTGGTGGCCACCACTCATGCTA	CCAGCTGCAGCTGGTGGCCACCACTCATGCTA	-	-	CCAGCTGCAGCTGGTGGCCACCACTCATGCTA	CCAGCTGCAGCTGGTGGCCACCACTCATGCTA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr17:56492911_56492942delCCAGCTGCAGCTGGTGGCCACCACTCATGCTA	ENST00000584437.1	-	0	1952_1983				BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000581868.1_Intron|RNF43_ENST00000500597.2_Start_Codon_Del|RNF43_ENST00000583753.1_Start_Codon_Del|RNF43_ENST00000577716.1_Start_Codon_Del|RNF43_ENST00000407977.2_Start_Codon_Del|RNF43_ENST00000580014.1_5'Flank			Q68DV7	RNF43_HUMAN	ring finger protein 43						negative regulation of Wnt signaling pathway (GO:0030178)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|stem cell proliferation (GO:0072089)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway (GO:0016055)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CAGAGGGCAGCCAGCTGCAGCTGGTGGCCACCACTCATGCTACCAGCTGCAG	0.534																																						ENST00000584437.1		NA																	0				NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60								ring finger protein 43																																				SO:0001582	initiator_codon_variant	54894					endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding	g.chr17:56492911_56492942delCCAGCTGCAGCTGGTGGCCACCACTCATGCTA		CCDS11607.1	17q23.2	2013-01-09						"""RING-type (C3HC4) zinc fingers"""	18505	protein-coding gene	gene with protein product		612482					Standard	NM_017763		Approved	FLJ20315, DKFZp781H0392, URCC	uc002iwh.4	Q68DV7			17.37:g.56492911_56492942delCCAGCTGCAGCTGGTGGCCACCACTCATGCTA		False	False		Somatic	1				RNF43_ENST00000500597.2_Start_Codon_Del|RNF43_ENST00000407977.2_Start_Codon_Del|RNF43_ENST00000583753.1_Start_Codon_Del|RNF43_ENST00000581868.1_Intron|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577716.1_Start_Codon_Del				WXS	Illumina HiSeq	Phase_I	Q68DV7	RNF43_HUMAN			0	1952_1983	-	Medulloblastoma(34;0.127)|all_neural(34;0.237)		NA					A8K4R2|B7Z443|B7Z5D5|B7Z5J5|Q65ZA4|Q6AI04|Q9NXD0	Translation_Start_Site	DEL	ENST00000584437.1	37		CCDS11607.1																																																																																				0.534	RNF43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444713.1	0	NM_017763		17:56492911
SAMSN1	64092	broad.mit.edu	37	21	15889230	15889230	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr21:15889230delC	ENST00000400566.1	-	3	343	c.262delG	c.(262-264)gccfs	p.A88fs	SAMSN1_ENST00000285670.2_Frame_Shift_Del_p.A156fs|SAMSN1_ENST00000400564.1_Intron	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	88					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TCAGAAAGGGCTTTGATGTAC	0.318																																						ENST00000285670.2		NA																	0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24						c.(466-468)gccfs		SAM domain, SH3 domain and nuclear localization signals 1							112.0	99.0	103.0					21																	15889230		1801	4065	5866	SO:0001589	frameshift_variant	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15889230delC	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.262delG	21.37:g.15889230delC	ENSP00000383411:p.Ala88fs	True	False		Somatic	1				SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Frame_Shift_Del_p.A88fs	p.A156fs	NM_001256370.1	NP_001243299.1	WXS	Illumina HiSeq	Phase_I	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	4	640	-			88					B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Frame_Shift_Del	DEL	ENST00000400566.1	37	c.466delG	CCDS42906.1																																																																																				0.318	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1	0			21:15889230
SOCS5	9655	broad.mit.edu	37	2	46985870	46985871	+	Frame_Shift_Ins	INS	-	-	TATTT			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:46985870_46985871insTATTT	ENST00000306503.5	+	2	373_374	c.201_202insTATTT	c.(202-204)ggafs	p.G68fs	SOCS5_ENST00000394861.2_Frame_Shift_Ins_p.G68fs	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	68					cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CCTTACAACTGGGATTAAGCCC	0.381																																						ENST00000306503.5		NA																	0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22						c.(202-204)ggafs		suppressor of cytokine signaling 5																																				SO:0001589	frameshift_variant	0				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46985870_46985871insTATTT	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	Exception_encountered	2.37:g.46985870_46985871insTATTT	ENSP00000305133:p.Gly68fs	True	False		Somatic	0				SOCS5_ENST00000394861.2_Frame_Shift_Ins_p.G68fs	p.G68fs	NM_014011.4	NP_054730.1	WXS	Illumina HiSeq	Phase_I	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	373_374	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	68					Q53SD4|Q8IYZ4	Frame_Shift_Ins	INS	ENST00000306503.5	37	c.201_202insTATTT	CCDS1830.1																																																																																				0.381	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2	0			2:46985870
ARID1A	8289	broad.mit.edu	37	1	27106178	27106178	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:27106178delC	ENST00000324856.7	+	20	6160	c.5789delC	c.(5788-5790)tcafs	p.S1930fs	ARID1A_ENST00000540690.1_Frame_Shift_Del_p.S258fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S1547fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S1713fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1930					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCTAAGAGTTCAGAGGCCATC	0.522			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000457599.2		NA		Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5137-5139)tcafs		AT rich interactive domain 1A (SWI-like)							129.0	125.0	127.0					1																	27106178		2203	4300	6503	SO:0001589	frameshift_variant	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106178delC	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5789delC	1.37:g.27106178delC	ENSP00000320485:p.Ser1930fs	False	False		Somatic	1				ARID1A_ENST00000540690.1_Frame_Shift_Del_p.S258fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S1547fs|ARID1A_ENST00000324856.7_Frame_Shift_Del_p.S1930fs	p.S1713fs	NM_139135.2	NP_624361.1	WXS	Illumina HiSeq	Phase_I	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	5138	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1930					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Frame_Shift_Del	DEL	ENST00000324856.7	37	c.5138delC	CCDS285.1																																																																																				0.522	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	0	NM_139135		1:27106178
AGGF1	55109	broad.mit.edu	37	5	76351417	76351418	+	In_Frame_Ins	INS	-	-	TGTACAAAATTAAAACTA			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr5:76351417_76351418insTGTACAAAATTAAAACTA	ENST00000312916.7	+	11	2094_2095	c.1712_1713insTGTACAAAATTAAAACTA	c.(1711-1716)ttacag>ttTGTACAAAATTAAAACTAacag	p.571_571L>FVQN*N*		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	571					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AAATATGGTTTACAGGTGAGGA	0.282																																						ENST00000312916.7		NA																	0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20						c.(1711-1716)ttacag>ttTGTACAAAATTAAAACTAacag		angiogenic factor with G patch and FHA domains 1																																				SO:0001652	inframe_insertion	55109				angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding	g.chr5:76351417_76351418insTGTACAAAATTAAAACTA	AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	Exception_encountered	5.37:g.76351417_76351418insTGTACAAAATTAAAACTA	ENSP00000316109:p.Leu571delinsPheValGlnAsn*Asn*	True	False		Somatic	0					p.571_571L>FVQN*N*	NM_018046.4	NP_060516.2	WXS	Illumina HiSeq	Phase_I	Q8N302	AGGF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)	11	2094_2095	+		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)	571					O00581|Q53YS3|Q9BU84|Q9NW66	In_Frame_Ins	INS	ENST00000312916.7	37	c.1712_1713insTGTACAAAATTAAAACTA	CCDS4035.1																																																																																				0.282	AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	0	NM_018046		5:76351417
JMY	133746	broad.mit.edu	37	5	78610444	78610479	+	In_Frame_Del	DEL	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	rs200621350|rs201864465		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	-	-	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENST00000396137.4	+	9	2891_2926	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca	p.PPPPPPPPPPPP811del	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	811	Pro-rich.				'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTTCCTccaacaccaccacctcccccacctcctccccctcccccaccaccaccacc	0.534																																						ENST00000396137.4		NA																	0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2428-2466)acaccaccacctcccccacctcctccccctcccccacca>aca		junction mediating and regulatory protein, p53 cofactor																																				SO:0001651	inframe_deletion	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	5.37:g.78610444_78610479delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	ENSP00000379441:p.Pro811_Pro822del	False	False		Somatic	1				JMY_ENST00000412001.1_Intron	p.PPPPPPPPPPPP811del	NM_152405.4	NP_689618.4	WXS	Illumina HiSeq	Phase_I	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	9	2891_2926	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	811			Pro-rich.		A1L4P5|B5MDS2|B5MDT0	In_Frame_Del	DEL	ENST00000396137.4	37	c.2429_2464delCACCACCACCTCCCCCACCTCCTCCCCCTCCCCCAC	CCDS4047.3																																																																																				0.534	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	0	NM_152405		5:78610444
HIST1H1B	3009	broad.mit.edu	37	6	27834679	27834693	+	In_Frame_Del	DEL	GCTTTGGGCTTAGCG	GCTTTGGGCTTAGCG	-	rs370043286|rs535793643		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	GCTTTGGGCTTAGCG	GCTTTGGGCTTAGCG	-	-	GCTTTGGGCTTAGCG	GCTTTGGGCTTAGCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:27834679_27834693delGCTTTGGGCTTAGCG	ENST00000331442.3	-	1	666_680	c.615_629delCGCTAAGCCCAAAGC	c.(613-630)gccgctaagcccaaagca>gca	p.205_210AAKPKA>A		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	205					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						AGGTTTTGCTGCTTTGGGCTTAGCGGCTTTGGGCT	0.544																																						ENST00000331442.3		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						c.(613-630)gccgctaagcccaaagca>gca		histone cluster 1, H1b				29,4235		5,19,2108						-10.1	0.0			63	16,8238		0,16,4111	no	coding	HIST1H1B	NM_005322.2		5,35,6219	A1A1,A1R,RR		0.1938,0.6801,0.3595				45,12473				SO:0001651	inframe_deletion	3009				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27834679_27834693delGCTTTGGGCTTAGCG	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.615_629delCGCTAAGCCCAAAGC	6.37:g.27834679_27834693delGCTTTGGGCTTAGCG	ENSP00000330074:p.Ala210_Lys214del	True	False		Somatic	1					p.205_210AAKPKA>A	NM_005322.2	NP_005313.1	WXS	Illumina HiSeq	Phase_I	P16401	H15_HUMAN			1	666_680	-			205					Q14529|Q3MJ42	In_Frame_Del	DEL	ENST00000331442.3	37	c.615_629delCGCTAAGCCCAAAGC	CCDS4635.1																																																																																				0.544	HIST1H1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043371.1	0	NM_005322		6:27834679
SDK1	221935	broad.mit.edu	37	7	3991368	3991378	+	Frame_Shift_Del	DEL	GGAGGACCTGA	GGAGGACCTGA	-			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	GGAGGACCTGA	GGAGGACCTGA	-	-	GGAGGACCTGA	GGAGGACCTGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:3991368_3991378delGGAGGACCTGA	ENST00000404826.2	+	7	1105_1115	c.966_976delGGAGGACCTGA	c.(964-978)gtggaggacctgagtfs	p.EDLS323fs	SDK1_ENST00000389531.3_Frame_Shift_Del_p.EDLS323fs	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	323	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V322V(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACAGGCCTGTGGAGGACCTGAGTGTGACCTG	0.583																																						ENST00000389531.3		NA																	1	Substitution - coding silent(1)	p.V322V(1)	lung(1)	NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(964-978)gtggaggacctgagtfs		sidekick cell adhesion molecule 1																																				SO:0001589	frameshift_variant	221935				cell adhesion	integral to membrane		g.chr7:3991368_3991378delGGAGGACCTGA	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.966_976delGGAGGACCTGA	7.37:g.3991368_3991378delGGAGGACCTGA	ENSP00000385899:p.Glu323fs	False	False		Somatic	1				SDK1_ENST00000404826.2_Frame_Shift_Del_p.EDLS323fs	p.EDLS323fs			WXS	Illumina HiSeq	Phase_I	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	7	966_976	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	323			Ig-like C2-type 3.		Q8TEN9|Q8TEP5|Q96N44	Frame_Shift_Del	DEL	ENST00000404826.2	37	c.966_976delGGAGGACCTGA	CCDS34590.1																																																																																				0.583	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	0	NM_152744		7:3991368
PTBP2	58155	broad.mit.edu	37	1	97250747	97250748	+	Frame_Shift_Ins	INS	-	-	CCTGTAAAAGTGAATAAAGCAT			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:97250747_97250748insCCTGTAAAAGTGAATAAAGCAT	ENST00000426398.2	+	8	884_885	c.841_842insCCTGTAAAAGTGAATAAAGCAT	c.(841-843)gatfs	p.D281fs	PTBP2_ENST00000541987.1_Frame_Shift_Ins_p.D250fs|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000609116.1_Frame_Shift_Ins_p.D281fs|PTBP2_ENST00000370197.1_Frame_Shift_Ins_p.D281fs|PTBP2_ENST00000370198.1_Frame_Shift_Ins_p.D281fs|PTBP2_ENST00000394184.3_Frame_Shift_Ins_p.D292fs	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	281					mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TCCATCTGGGGATGGACAACCT	0.391																																						ENST00000236228.6		NA																	0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26						c.(841-843)gatfs		polypyrimidine tract binding protein 2																																				SO:0001589	frameshift_variant	58155						nucleotide binding	g.chr1:97250747_97250748insCCTGTAAAAGTGAATAAAGCAT	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	17662	protein-coding gene	gene with protein product		608449				11003644	Standard	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	Q9UKA9	OTTHUMG00000010685	Exception_encountered	1.37:g.97250747_97250748insCCTGTAAAAGTGAATAAAGCAT	ENSP00000412788:p.Asp281fs	True	False		Somatic	0				PTBP2_ENST00000541987.1_Frame_Shift_Ins_p.D250fs|PTBP2_ENST00000426398.2_Frame_Shift_Ins_p.D281fs|PTBP2_ENST00000370198.1_Frame_Shift_Ins_p.D281fs|PTBP2_ENST00000394184.3_Frame_Shift_Ins_p.D292fs|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_Frame_Shift_Ins_p.D281fs	p.D281fs	NM_021190.2	NP_067013.1	WXS	Illumina HiSeq	Phase_I	Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	8	923_924	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)	281					Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Frame_Shift_Ins	INS	ENST00000426398.2	37	c.841_842insCCTGTAAAAGTGAATAAAGCAT	CCDS754.1																																																																																				0.391	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1	0			1:97250747
AMER3	205147	broad.mit.edu	37	2	131520725	131520725	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:131520725C>T	ENST00000423981.1	+	2	1190	c.1080C>T	c.(1078-1080)agC>agT	p.S360S	AMER3_ENST00000321420.4_Silent_p.S360S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	360					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										ACCCTCGCAGCGGCTCCAAAG	0.652																																						ENST00000423981.1		NA																	0					NA						c.(1078-1080)agC>agT		APC membrane recruitment protein 3							40.0	38.0	39.0					2																	131520725		2203	4300	6503	SO:0001819	synonymous_variant	205147							g.chr2:131520725C>T	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1080C>T	2.37:g.131520725C>T		False	False		Somatic	0				AMER3_ENST00000321420.4_Silent_p.S360S	p.S360S	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	WXS	Illumina HiSeq	Phase_I					2	1190	+			NA					B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.1080C>T	CCDS2164.1																																																																																				0.652	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	0	NM_152698		2:131520725
BBS2	583	broad.mit.edu	37	16	56535366	56535366	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr16:56535366C>T	ENST00000245157.5	-	10	1544	c.1124G>A	c.(1123-1125)gGc>gAc	p.G375D	BBS2_ENST00000568104.1_Missense_Mutation_p.G375D|BBS2_ENST00000561951.1_5'Flank	NM_031885.3	NP_114091	Q9BXC9	BBS2_HUMAN	Bardet-Biedl syndrome 2	375					adult behavior (GO:0030534)|artery smooth muscle contraction (GO:0014824)|brain morphogenesis (GO:0048854)|cartilage development (GO:0051216)|cerebral cortex development (GO:0021987)|cilium morphogenesis (GO:0060271)|fat cell differentiation (GO:0045444)|Golgi to plasma membrane protein transport (GO:0043001)|hippocampus development (GO:0021766)|melanosome transport (GO:0032402)|negative regulation of appetite by leptin-mediated signaling pathway (GO:0038108)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|nonmotile primary cilium assembly (GO:0035058)|photoreceptor cell maintenance (GO:0045494)|positive regulation of multicellular organism growth (GO:0040018)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|sperm axoneme assembly (GO:0007288)|striatum development (GO:0021756)|vasodilation (GO:0042311)|visual perception (GO:0007601)	BBSome (GO:0034464)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						TGGGATTATGCCCCGATGCCC	0.498									Bardet-Biedl syndrome																													ENST00000245157.5		NA																	0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)	26						c.(1123-1125)gGc>gAc		Bardet-Biedl syndrome 2							199.0	174.0	182.0					16																	56535366		2198	4300	6498	SO:0001583	missense	583	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	adult behavior|brain morphogenesis|cerebral cortex development|cilium morphogenesis|fat cell differentiation|hippocampus development|melanosome transport|negative regulation of multicellular organism growth|photoreceptor cell maintenance|protein localization to organelle|regulation of cilium beat frequency involved in ciliary motility|sperm axoneme assembly|striatum development	BBSome|cilium membrane|microtubule basal body|motile cilium	protein binding	g.chr16:56535366C>T	AF342736	CCDS32451.1	16q21	2013-01-08				ENSG00000125124			967	protein-coding gene	gene with protein product		606151		BBS		11285252	Standard	NM_031885		Approved		uc002ejd.2	Q9BXC9		ENST00000245157.5:c.1124G>A	16.37:g.56535366C>T	ENSP00000245157:p.Gly375Asp	True	False		Somatic	0				BBS2_ENST00000568104.1_Missense_Mutation_p.G375D	p.G375D	NM_031885.3	NP_114091	WXS	Illumina HiSeq	Phase_I	Q9BXC9	BBS2_HUMAN			10	1544	-			375					Q96CM0|Q96SN9	Missense_Mutation	SNP	ENST00000245157.5	37	c.1124G>A	CCDS32451.1	.	.	.	.	.	.	.	.	.	.	C	19.43	3.826572	0.71143	.	.	ENSG00000125124	ENST00000245157	D	0.91124	-2.79	5.38	4.43	0.53597	.	0.000000	0.85682	D	0.000000	D	0.88844	0.6547	L	0.55017	1.72	0.80722	D	1	P	0.34997	0.479	B	0.37480	0.251	D	0.88279	0.2935	10	0.59425	D	0.04	-7.8682	13.8574	0.63537	0.0:0.9273:0.0:0.0727	.	375	Q9BXC9	BBS2_HUMAN	D	375	ENSP00000245157:G375D	ENSP00000245157:G375D	G	-	2	0	BBS2	55092867	1.000000	0.71417	0.627000	0.29227	0.991000	0.79684	5.495000	0.66912	1.285000	0.44548	0.650000	0.86243	GGC		0.498	BBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434386.2	0	NM_031885		16:56535366
PRPF8	10594	broad.mit.edu	37	17	1577065	1577065	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr17:1577065G>A	ENST00000572621.1	-	21	3686	c.3421C>T	c.(3421-3423)Cgc>Tgc	p.R1141C	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1141C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1141	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTCATGAGGCGCATGCGGGCA	0.517																																						ENST00000572621.1		NA																	0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(3421-3423)Cgc>Tgc		pre-mRNA processing factor 8							156.0	145.0	149.0					17																	1577065		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1577065G>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.3421C>T	17.37:g.1577065G>A	ENSP00000460348:p.Arg1141Cys	False	False		Somatic	0				PRPF8_ENST00000304992.6_Missense_Mutation_p.R1141C	p.R1141C			WXS	Illumina HiSeq	Phase_I	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	21	3686	-			1141					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.3421C>T	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993235	0.74703	.	.	ENSG00000174231	ENST00000304992	D	0.84800	-1.9	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.94896	0.8350	H	0.95004	3.61	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95660	0.8714	10	0.87932	D	0	-7.3509	19.4672	0.94948	0.0:0.0:1.0:0.0	.	1141	Q6P2Q9	PRP8_HUMAN	C	1141	ENSP00000304350:R1141C	ENSP00000304350:R1141C	R	-	1	0	PRPF8	1523815	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.675000	0.61619	2.833000	0.97629	0.585000	0.79938	CGC		0.517	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2	0			17:1577065
ANKAR	150709	broad.mit.edu	37	2	190597916	190597916	+	Silent	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:190597916A>G	ENST00000520309.1	+	17	3472	c.3384A>G	c.(3382-3384)gaA>gaG	p.E1128E	ANKAR_ENST00000281412.6_Intron|ANKAR_ENST00000313581.4_Silent_p.E1128E|ANKAR_ENST00000438402.2_Intron|ANKAR_ENST00000431575.2_Silent_p.E1057E	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	1128						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAGGATTTGAATATGCTGATG	0.333																																						ENST00000520309.1		NA																	0				breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46						c.(3382-3384)gaA>gaG		ankyrin and armadillo repeat containing							145.0	136.0	139.0					2																	190597916		2203	4299	6502	SO:0001819	synonymous_variant	150709					integral to membrane	binding	g.chr2:190597916A>G	AJ549812	CCDS33351.1, CCDS33351.2	2q32.2	2013-02-14			ENSG00000151687	ENSG00000151687		"""Ankyrin repeat domain containing"", ""Armadillo repeat containing"""	26350	protein-coding gene	gene with protein product		609803				15110750	Standard	NM_144708		Approved	FLJ25415	uc002uqw.2	Q7Z5J8	OTTHUMG00000154398	ENST00000520309.1:c.3384A>G	2.37:g.190597916A>G		False	False		Somatic	0				ANKAR_ENST00000281412.6_Intron|ANKAR_ENST00000313581.4_Silent_p.E1128E|ANKAR_ENST00000438402.2_Intron|ANKAR_ENST00000431575.2_Silent_p.E1057E	p.E1128E	NM_144708.3	NP_653309.3	WXS	Illumina HiSeq	Phase_I	Q7Z5J8	ANKAR_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)		17	3472	+			1128					Q3ZCS6|Q4G0M2|Q6ZU02	Silent	SNP	ENST00000520309.1	37	c.3384A>G	CCDS33351.2																																																																																				0.333	ANKAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335045.3	0	NM_144708		2:190597916
IFT46	56912	broad.mit.edu	37	11	118416125	118416125	+	Splice_Site	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:118416125T>C	ENST00000264021.3	-	11	1236	c.818A>G	c.(817-819)cAg>cGg	p.Q273R	TMEM25_ENST00000442938.2_Intron|TMEM25_ENST00000354284.4_Intron|IFT46_ENST00000530872.1_Intron|IFT46_ENST00000264020.2_Splice_Site_p.Q324R	NM_001168618.1	NP_001162089.1	Q9NQC8	IFT46_HUMAN	intraflagellar transport 46	273					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)|protein stabilization (GO:0050821)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|motile cilium (GO:0031514)|motile primary cilium (GO:0031512)	protein C-terminus binding (GO:0008022)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						TTGGCTCACCTGTGAGTTCTT	0.463																																						ENST00000264020.2		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9						c.(970-972)cAg>cGg		intraflagellar transport 46 homolog (Chlamydomonas)							132.0	135.0	134.0					11																	118416125		2200	4295	6495	SO:0001630	splice_region_variant	56912				flagellum assembly|intraflagellar transport|protein stabilization	microtubule basal body|microtubule-based flagellum|nucleus	protein C-terminus binding	g.chr11:118416125T>C	AL136934	CCDS8399.1, CCDS53718.1	11q23.3	2014-07-18	2014-07-03	2010-04-22	ENSG00000118096	ENSG00000118096		"""Intraflagellar transport homologs"""	26146	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 32"""		"""chromosome 11 open reading frame 60"", ""intraflagellar transport 46 homolog (Chlamydomonas)"""	C11orf60		10873569, 19253336	Standard	NM_020153		Approved	C11orf2, FLJ21827, CFAP32	uc001pto.2	Q9NQC8	OTTHUMG00000166408	ENST00000264021.3:c.819+1A>G	11.37:g.118416125T>C		False	False		Somatic	0				TMEM25_ENST00000354284.4_Intron|IFT46_ENST00000530872.1_Intron|IFT46_ENST00000264021.3_Splice_Site_p.Q273R|TMEM25_ENST00000442938.2_Intron	p.Q324R	NM_020153.3	NP_064538.3	WXS	Illumina HiSeq	Phase_I	Q9NQC8	IFT46_HUMAN			12	1348	-			273					A8K0F6|Q9H6V5	Splice_Site	SNP	ENST00000264021.3	37	c.971A>G	CCDS53718.1	.	.	.	.	.	.	.	.	.	.	T	19.07	3.756597	0.69648	.	.	ENSG00000118096	ENST00000264021;ENST00000264020	T;T	0.51325	0.74;0.71	6.03	6.03	0.97812	.	0.122109	0.56097	D	0.000029	T	0.72630	0.3484	M	0.86740	2.835	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.70935	0.971;0.964	T	0.75906	-0.3152	10	0.48119	T	0.1	-1.6128	16.5655	0.84588	0.0:0.0:0.0:1.0	.	273;324	Q9NQC8;Q9NQC8-2	IFT46_HUMAN;.	R	273;324	ENSP00000264021:Q273R;ENSP00000264020:Q324R	ENSP00000264020:Q324R	Q	-	2	0	IFT46	117921335	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	6.966000	0.76073	2.302000	0.77476	0.533000	0.62120	CAG		0.463	IFT46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389627.1	0	NM_020153	Missense_Mutation	11:118416125
SPAG16	79582	broad.mit.edu	37	2	214182035	214182035	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:214182035A>C	ENST00000331683.5	+	5	586	c.491A>C	c.(490-492)aAc>aCc	p.N164T	SPAG16_ENST00000447990.1_Missense_Mutation_p.N164T|SPAG16_ENST00000374309.3_Missense_Mutation_p.N70T|SPAG16_ENST00000272898.7_Missense_Mutation_p.N164T|SPAG16_ENST00000432529.2_Missense_Mutation_p.N164T|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000413312.1_Missense_Mutation_p.N133T	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	164					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GAAAATGAGAACAAAAATTTA	0.313																																						ENST00000413312.1		NA																	0				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56						c.(397-399)aAc>aCc		sperm associated antigen 16							76.0	78.0	77.0					2																	214182035		2202	4297	6499	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214182035A>C	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.491A>C	2.37:g.214182035A>C	ENSP00000332592:p.Asn164Thr	False	False		Somatic	0				SPAG16_ENST00000432529.2_Missense_Mutation_p.N164T|SPAG16_ENST00000374309.3_Missense_Mutation_p.N70T|SPAG16_ENST00000447990.1_Missense_Mutation_p.N164T|SPAG16_ENST00000272898.7_Missense_Mutation_p.N164T|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000331683.5_Missense_Mutation_p.N164T	p.N133T			WXS	Illumina HiSeq	Phase_I	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	4	644	+		Renal(323;0.00461)	164					Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.398A>C	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	A	17.68	3.448286	0.63178	.	.	ENSG00000144451	ENST00000331683;ENST00000432529;ENST00000413312;ENST00000272898;ENST00000447990;ENST00000374309	T;T	0.56275	0.53;0.47	5.65	4.48	0.54585	.	0.190601	0.48767	D	0.000179	T	0.64338	0.2589	M	0.62723	1.935	0.33798	D	0.626297	B;D;P;D;D	0.71674	0.421;0.989;0.668;0.993;0.998	B;P;B;P;D	0.65684	0.202;0.883;0.306;0.823;0.937	T	0.72491	-0.4277	10	0.42905	T	0.14	.	9.0056	0.36109	0.8356:0.0:0.0:0.1644	.	70;133;104;164;164	B4DYB5;Q8N0X2-3;Q4G1A2;Q8N0X2;Q8N0X2-4	.;.;.;SPG16_HUMAN;.	T	164;164;133;164;164;70	ENSP00000332592:N164T;ENSP00000363428:N70T	ENSP00000272898:N164T	N	+	2	0	SPAG16	213890280	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.685000	0.54678	0.941000	0.37499	0.528000	0.53228	AAC		0.313	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	0	NM_024532		2:214182035
VWA9	81556	broad.mit.edu	37	15	65890685	65890685	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr15:65890685T>C	ENST00000395644.4	-	6	1057	c.722A>G	c.(721-723)gAt>gGt	p.D241G	VWA9_ENST00000567744.1_Missense_Mutation_p.D277G|VWA9_ENST00000420799.2_Missense_Mutation_p.D184G|VWA9_ENST00000442903.3_Missense_Mutation_p.D205G|VWA9_ENST00000313182.2_Missense_Mutation_p.D241G|VWA9_ENST00000569491.1_Missense_Mutation_p.D192G|VWA9_ENST00000431261.2_Missense_Mutation_p.D162G			Q96SY0	VWA9_HUMAN	von Willebrand factor A domain containing 9	241																	AGGGATAGGATCAATTTCTTC	0.378																																						ENST00000395644.4		NA																	0					NA						c.(721-723)gAt>gGt		von Willebrand factor A domain containing 9							96.0	95.0	95.0					15																	65890685		2201	4299	6500	SO:0001583	missense	81556							g.chr15:65890685T>C	AL136662	CCDS55969.1, CCDS45283.1	15q22.31	2012-09-27	2012-09-27	2012-09-27	ENSG00000138614	ENSG00000138614			25372	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 44"""	C15orf44		11230166	Standard	NM_001136043		Approved	DKFZP564O1664	uc010uja.2	Q96SY0	OTTHUMG00000133159	ENST00000395644.4:c.722A>G	15.37:g.65890685T>C	ENSP00000379006:p.Asp241Gly	False	False		Somatic	0				VWA9_ENST00000569491.1_Missense_Mutation_p.D192G|VWA9_ENST00000567744.1_Missense_Mutation_p.D277G|VWA9_ENST00000431261.2_Missense_Mutation_p.D162G|VWA9_ENST00000442903.3_Missense_Mutation_p.D205G|VWA9_ENST00000420799.2_Missense_Mutation_p.D184G|VWA9_ENST00000313182.2_Missense_Mutation_p.D241G	p.D241G			WXS	Illumina HiSeq	Phase_I					6	1057	-			NA					B4DDI6|B4DVD5|Q49AH8|Q96HX5|Q9H0S5	Missense_Mutation	SNP	ENST00000395644.4	37	c.722A>G		.	.	.	.	.	.	.	.	.	.	T	14.76	2.630436	0.46944	.	.	ENSG00000138614	ENST00000395644;ENST00000313182;ENST00000431261;ENST00000420799;ENST00000442903	.	.	.	5.86	5.86	0.93980	.	0.092655	0.64402	D	0.000001	T	0.53433	0.1796	L	0.38175	1.15	0.80722	D	1	B;B;B;B	0.11235	0.004;0.004;0.0;0.001	B;B;B;B	0.11329	0.006;0.004;0.001;0.003	T	0.47249	-0.9132	9	0.23302	T	0.38	-28.6845	16.2605	0.82541	0.0:0.0:0.0:1.0	.	192;205;277;241	B4DWZ3;B4DVT3;B4DJL6;Q96SY0	.;.;.;CO044_HUMAN	G	241;241;162;184;205	.	ENSP00000326379:D241G	D	-	2	0	C15orf44	63677738	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	7.831000	0.86748	2.237000	0.73441	0.460000	0.39030	GAT		0.378	VWA9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420604.3	0	NM_030800		15:65890685
ZSCAN1	284312	broad.mit.edu	37	19	58549369	58549369	+	Silent	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:58549369G>A	ENST00000282326.1	+	3	412	c.165G>A	c.(163-165)gcG>gcA	p.A55A	ZSCAN1_ENST00000391700.1_Silent_p.A55A|ZSCAN1_ENST00000601162.1_Silent_p.A55A	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	55	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGCACCTCGCGCTGGGCCAGC	0.706																																						ENST00000282326.1		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						c.(163-165)gcG>gcA		zinc finger and SCAN domain containing 1							14.0	15.0	15.0					19																	58549369		2184	4280	6464	SO:0001819	synonymous_variant	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58549369G>A	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.165G>A	19.37:g.58549369G>A		False	False		Somatic	0				ZSCAN1_ENST00000391700.1_Silent_p.A55A|ZSCAN1_ENST00000601162.1_Silent_p.A55A	p.A55A	NM_182572.3	NP_872378.3	WXS	Illumina HiSeq	Phase_I	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	3	412	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	55			SCAN box.		Q3B798|Q6WLH8|Q86WS8	Silent	SNP	ENST00000282326.1	37	c.165G>A	CCDS12969.1																																																																																				0.706	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	0	NM_182572		19:58549369
NAIP	4671	broad.mit.edu	37	5	70308630	70308630	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr5:70308630A>G	ENST00000517649.1	-	4	403	c.113T>C	c.(112-114)cTa>cCa	p.L38P	NAIP_ENST00000508426.2_Missense_Mutation_p.L38P|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.L38P	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	38					inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|metal ion binding (GO:0046872)			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CTCTTCTTCTAGTTCCTTTGC	0.463																																						ENST00000517649.1		NA																	0				central_nervous_system(1)	1						c.(112-114)cTa>cCa		NLR family, apoptosis inhibitory protein							148.0	135.0	139.0					5																	70308630		2202	4296	6498	SO:0001583	missense	4671				anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding	g.chr5:70308630A>G	U19251	CCDS4009.1, CCDS43327.1	5q13.2	2010-06-16	2006-12-08	2006-12-08	ENSG00000249437	ENSG00000249437		"""Baculoviral IAP repeat containing"", ""Nucleotide-binding domain and leucine rich repeat containing"""	7634	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and BIR domain containing 1"", ""NLR family, BIR domain containing 1"""	600355	"""baculoviral IAP repeat-containing 1"""	BIRC1		7813013	Standard	NM_022892		Approved	NLRB1	uc003jyj.1	Q13075	OTTHUMG00000163318	ENST00000517649.1:c.113T>C	5.37:g.70308630A>G	ENSP00000428657:p.Leu38Pro	True	False		Somatic	0				NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.L38P|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000194097.4_Missense_Mutation_p.L38P	p.L38P	NM_004536.2	NP_004527.2	WXS	Illumina HiSeq	Phase_I	Q13075	BIRC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)	4	403	-		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)	38					B9EG72|E9PHD1|O75857|Q13730|Q59GI6|Q8TDZ4|Q99796	Missense_Mutation	SNP	ENST00000517649.1	37	c.113T>C	CCDS4009.1	.	.	.	.	.	.	.	.	.	.	a	7.483	0.648990	0.14516	.	.	ENSG00000249437	ENST00000517649;ENST00000194097;ENST00000508426	T;T;T	0.75154	-0.91;-0.91;-0.91	3.25	0.611	0.17586	.	2.100700	0.03038	U	0.152947	T	0.55049	0.1896	N	0.08118	0	0.09310	N	1	B;B	0.17465	0.015;0.022	B;B	0.14023	0.003;0.01	T	0.47824	-0.9087	10	0.56958	D	0.05	.	4.4374	0.11557	0.6054:0.1923:0.0:0.2023	.	38;38	E7EQW0;Q13075	.;BIRC1_HUMAN	P	38	ENSP00000428657:L38P;ENSP00000443944:L38P;ENSP00000429545:L38P	ENSP00000443944:L38P	L	-	2	0	NAIP	70344386	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.847000	0.27696	0.117000	0.18138	0.352000	0.21897	CTA		0.463	NAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372649.6	0	NM_004536		5:70308630
ASIC1	41	broad.mit.edu	37	12	50452799	50452799	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:50452799C>G	ENST00000447966.2	+	2	479	c.250C>G	c.(250-252)Cag>Gag	p.Q84E	ASIC1_ENST00000228468.4_Missense_Mutation_p.Q84E	NM_001095.3	NP_001086.2	P78348	ASIC1_HUMAN	acid-sensing (proton-gated) ion channel 1	84					associative learning (GO:0008306)|calcium ion transmembrane transport (GO:0070588)|cellular response to pH (GO:0071467)|ion transmembrane transport (GO:0034220)|memory (GO:0007613)|negative regulation of neurotransmitter secretion (GO:0046929)|protein homotrimerization (GO:0070207)|regulation of membrane potential (GO:0042391)|response to acidic pH (GO:0010447)|response to pH (GO:0009268)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|synapse (GO:0045202)	acid-sensing ion channel activity (GO:0044736)|ion gated channel activity (GO:0022839)|ligand-gated sodium channel activity (GO:0015280)									Amiloride(DB00594)|Diclofenac(DB00586)	GGCTGCCTCTCAGCTTACCTT	0.582																																						ENST00000228468.4		NA																	0					NA						c.(250-252)Cag>Gag		acid-sensing (proton-gated) ion channel 1	Amiloride(DB00594)						192.0	136.0	155.0					12																	50452799		2203	4300	6503	SO:0001583	missense	41				calcium ion transport|response to pH|signal transduction	integral to plasma membrane	ligand-gated sodium channel activity|protein binding	g.chr12:50452799C>G	U78181	CCDS8796.1, CCDS44876.1, CCDS58228.1	12q12	2012-02-23	2012-02-22	2012-02-22		ENSG00000110881		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	100	protein-coding gene	gene with protein product		602866	"""amiloride-sensitive cation channel 2, neuronal"""	ACCN2		9037075	Standard	NM_001095		Approved	BNaC2, hBNaC2	uc001rvv.4	P78348	OTTHUMG00000169812	ENST00000447966.2:c.250C>G	12.37:g.50452799C>G	ENSP00000400228:p.Gln84Glu	False	False		Somatic	0				ASIC1_ENST00000447966.2_Missense_Mutation_p.Q84E	p.Q84E	NM_020039.3	NP_064423.2	WXS	Illumina HiSeq	Phase_I	P78348	ACCN2_HUMAN			2	635	+			84					A3KN86|E5KBL7|P78349|Q96CV2	Missense_Mutation	SNP	ENST00000447966.2	37	c.250C>G	CCDS44876.1	.	.	.	.	.	.	.	.	.	.	C	1.660	-0.511702	0.04200	.	.	ENSG00000110881	ENST00000228468;ENST00000447966	T;T	0.62232	0.04;0.04	4.83	4.83	0.62350	.	0.663254	0.14534	N	0.313671	T	0.33206	0.0855	N	0.02916	-0.46	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.23619	-1.0183	10	0.02654	T	1	-20.7445	12.1838	0.54226	0.2837:0.7163:0.0:0.0	.	84;84	P78348;P78348-1	ACCN2_HUMAN;.	E	84	ENSP00000228468:Q84E;ENSP00000400228:Q84E	ENSP00000228468:Q84E	Q	+	1	0	ACCN2	48739066	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	2.621000	0.46418	2.404000	0.81709	0.462000	0.41574	CAG		0.582	ASIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406004.2	0	NM_020039		12:50452799
KRTAP24-1	643803	broad.mit.edu	37	21	31654689	31654689	+	Missense_Mutation	SNP	C	C	T	rs200135144		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr21:31654689C>T	ENST00000340345.4	-	1	587	c.562G>A	c.(562-564)Gtc>Atc	p.V188I		NM_001085455.1	NP_001078924.1	Q3LI83	KR241_HUMAN	keratin associated protein 24-1	188						keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AATGGTGAGACGTAGCTGGGT	0.418																																						ENST00000340345.4		NA																	0				breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						c.(562-564)Gtc>Atc		keratin associated protein 24-1							130.0	126.0	127.0					21																	31654689		1872	4106	5978	SO:0001583	missense	643803					keratin filament	structural molecule activity	g.chr21:31654689C>T	AB096935	CCDS42915.1	21q22.11	2007-11-23			ENSG00000188694	ENSG00000188694		"""Keratin associated proteins"""	33902	protein-coding gene	gene with protein product							Standard	NM_001085455		Approved	KAP24.1	uc002ynv.3	Q3LI83	OTTHUMG00000125483	ENST00000340345.4:c.562G>A	21.37:g.31654689C>T	ENSP00000339238:p.Val188Ile	False	False		Somatic	0					p.V188I	NM_001085455.1	NP_001078924.1	WXS	Illumina HiSeq	Phase_I	Q3LI83	KR241_HUMAN			1	587	-			188					Q1XDX0	Missense_Mutation	SNP	ENST00000340345.4	37	c.562G>A	CCDS42915.1	.	.	.	.	.	.	.	.	.	.	c	0.016	-1.524270	0.00959	.	.	ENSG00000188694	ENST00000340345	T	0.03889	3.77	4.8	0.977	0.19733	.	0.648359	0.14303	N	0.328131	T	0.02083	0.0065	N	0.08118	0	0.09310	N	1	B	0.21688	0.059	B	0.17722	0.019	T	0.46247	-0.9205	10	0.25106	T	0.35	-4.483	2.1659	0.03837	0.5894:0.1668:0.09:0.1539	.	188	Q3LI83	KR241_HUMAN	I	188	ENSP00000339238:V188I	ENSP00000339238:V188I	V	-	1	0	KRTAP24-1	30576560	0.766000	0.28496	0.020000	0.16555	0.034000	0.12701	0.517000	0.22832	0.070000	0.16634	-1.971000	0.00464	GTC		0.418	KRTAP24-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246806.2	0	NM_001085455		21:31654689
MYH2	4620	broad.mit.edu	37	17	10433385	10433385	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr17:10433385C>T	ENST00000245503.5	-	23	3088	c.2704G>A	c.(2704-2706)Gaa>Aaa	p.E902K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.E902K|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	902					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCCAAGCCTTCGGCTTCCTTA	0.393																																						ENST00000245503.5		NA																	0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(2704-2706)Gaa>Aaa		myosin, heavy chain 2, skeletal muscle, adult							134.0	130.0	131.0					17																	10433385		2203	4300	6503	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10433385C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.2704G>A	17.37:g.10433385C>T	ENSP00000245503:p.Glu902Lys	False	False		Somatic	0				RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.E902K|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	p.E902K	NM_017534.5	NP_060004.3	WXS	Illumina HiSeq	Phase_I	Q9UKX2	MYH2_HUMAN			23	3088	-			902					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.2704G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.774792	0.70107	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.83755	-1.76;-1.76	5.15	5.15	0.70609	.	0.176467	0.26605	U	0.023460	D	0.89269	0.6667	H	0.95004	3.61	0.58432	D	0.999992	P	0.35411	0.5	B	0.37422	0.249	D	0.91254	0.5031	10	0.72032	D	0.01	.	18.795	0.91990	0.0:1.0:0.0:0.0	.	902	Q9UKX2	MYH2_HUMAN	K	902	ENSP00000245503:E902K;ENSP00000380367:E902K	ENSP00000245503:E902K	E	-	1	0	MYH2	10374110	1.000000	0.71417	1.000000	0.80357	0.874000	0.50279	7.361000	0.79497	2.661000	0.90470	0.591000	0.81541	GAA		0.393	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	0	NM_017534		17:10433385
PLCXD1	55344	broad.mit.edu	37	X	215966	215966	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:215966C>T	ENST00000381657.2	+	7	1450	c.936C>T	c.(934-936)gaC>gaT	p.D312D	PLCXD1_ENST00000399012.1_Silent_p.D312D|PLCXD1_ENST00000381663.3_Silent_p.D312D	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	312					lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCGTCAGTGACGTCATCGCGC	0.627																																						ENST00000381657.2		NA																	0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(934-936)gaC>gaT		phosphatidylinositol-specific phospholipase C, X domain containing 1							89.0	79.0	82.0					X																	215966		2203	4296	6499	SO:0001819	synonymous_variant	55344				intracellular signal transduction|lipid metabolic process		phospholipase C activity	g.chrX:215966C>T	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"""Pseudoautosomal regions / PAR1"""	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.936C>T	X.37:g.215966C>T		False	False		Somatic	0				PLCXD1_ENST00000399012.1_Silent_p.D312D|PLCXD1_ENST00000381663.3_Silent_p.D312D	p.D312D	NM_018390.3	NP_060860.1	WXS	Illumina HiSeq	Phase_I	Q9NUJ7	PLCX1_HUMAN			7	1450	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	312					A2BH51|A2BH52	Silent	SNP	ENST00000381657.2	37	c.936C>T	CCDS14103.1																																																																																				0.627	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	0	NM_018390		X:215966
FBXO10	26267	broad.mit.edu	37	9	37537233	37537233	+	Silent	SNP	G	G	C	rs199569952	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:37537233G>C	ENST00000432825.2	-	3	1341	c.1293C>G	c.(1291-1293)ctC>ctG	p.L431L	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000543968.1_5'Flank|FBXO10_ENST00000541829.1_Intron	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	431					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACTTGCGGATGAGGCAGCCCT	0.602																																						ENST00000432825.2		NA																	0				breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(1291-1293)ctC>ctG		F-box protein 10							45.0	47.0	46.0					9																	37537233		2029	4191	6220	SO:0001819	synonymous_variant	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37537233G>C	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.1293C>G	9.37:g.37537233G>C		False	False		Somatic	0				RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Intron	p.L431L	NM_012166.2	NP_036298.2	WXS	Illumina HiSeq	Phase_I	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	3	1341	-			431					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Silent	SNP	ENST00000432825.2	37	c.1293C>G	CCDS47966.1																																																																																				0.602	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3	0			9:37537233
BTRC	8945	broad.mit.edu	37	10	103239151	103239151	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:103239151C>G	ENST00000370187.3	+	4	379	c.261C>G	c.(259-261)tgC>tgG	p.C87W	BTRC_ENST00000393441.4_Missense_Mutation_p.C46W|BTRC_ENST00000408038.2_Missense_Mutation_p.C51W	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	87					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCAGACTCTGCTTAAACCAAG	0.353																																						ENST00000370187.3		NA																	0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(259-261)tgC>tgG		beta-transducin repeat containing E3 ubiquitin protein ligase							108.0	100.0	102.0					10																	103239151		2203	4300	6503	SO:0001583	missense	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103239151C>G	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.261C>G	10.37:g.103239151C>G	ENSP00000359206:p.Cys87Trp	False	False		Somatic	0				BTRC_ENST00000408038.2_Missense_Mutation_p.C51W|BTRC_ENST00000393441.4_Missense_Mutation_p.C46W	p.C87W	NM_033637.3	NP_378663.1	WXS	Illumina HiSeq	Phase_I	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	4	379	+		Colorectal(252;0.234)	87					B5MD49|Q5W141|Q5W142|Q9Y213	Missense_Mutation	SNP	ENST00000370187.3	37	c.261C>G	CCDS7512.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.988372	0.74589	.	.	ENSG00000166167	ENST00000370187;ENST00000393441;ENST00000408038;ENST00000539411;ENST00000370183	T;T;T	0.62232	0.24;0.3;0.04	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000002	T	0.58949	0.2158	N	0.19112	0.55	0.58432	D	0.999999	P;P;D	0.54047	0.939;0.876;0.964	P;P;P	0.49853	0.506;0.609;0.624	T	0.61337	-0.7083	10	0.45353	T	0.12	-10.7863	19.4281	0.94754	0.0:1.0:0.0:0.0	.	61;51;87	B7Z3H4;Q9Y297-2;Q9Y297	.;.;FBW1A_HUMAN	W	87;46;51;25;69	ENSP00000359206:C87W;ENSP00000377088:C46W;ENSP00000385339:C51W	ENSP00000359202:C69W	C	+	3	2	BTRC	103229141	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.933000	0.63484	2.642000	0.89623	0.655000	0.94253	TGC		0.353	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	0	NM_033637		10:103239151
TXK	7294	broad.mit.edu	37	4	48069714	48069714	+	Silent	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:48069714T>C	ENST00000264316.4	-	15	1609	c.1524A>G	c.(1522-1524)gaA>gaG	p.E508E	TXK_ENST00000507351.1_Silent_p.E163E	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	508	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|adaptive immune response (GO:0002250)|cytokine production (GO:0001816)|interferon-gamma production (GO:0032609)|interleukin-4 production (GO:0032633)|NK T cell differentiation (GO:0001865)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|RNA polymerase II regulatory region DNA binding (GO:0001012)			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TAGGGCGGCCTTCAGGTTTCT	0.507																																						ENST00000264316.4		NA																	0				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						c.(1522-1524)gaA>gaG		TXK tyrosine kinase							87.0	91.0	90.0					4																	48069714		2203	4300	6503	SO:0001819	synonymous_variant	7294					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr4:48069714T>C	L27071	CCDS3480.1	4p12	2013-02-14	2003-04-01		ENSG00000074966	ENSG00000074966	2.7.10.1	"""SH2 domain containing"""	12434	protein-coding gene	gene with protein product		600058	"""PTK4 protein tyrosine kinase 4"""	PTK4		7951233, 7528718	Standard	NM_003328		Approved	TKL, PSCTK5, BTKL, RLK	uc003gxx.4	P42681	OTTHUMG00000102065	ENST00000264316.4:c.1524A>G	4.37:g.48069714T>C		False	False		Somatic	0				TXK_ENST00000507351.1_Silent_p.E163E	p.E508E	NM_003328.2	NP_003319.2	WXS	Illumina HiSeq	Phase_I	P42681	TXK_HUMAN			15	1609	-			508			Protein kinase.		Q14220	Silent	SNP	ENST00000264316.4	37	c.1524A>G	CCDS3480.1																																																																																				0.507	TXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219869.7	0	NM_003328		4:48069714
FZD7	8324	broad.mit.edu	37	2	202900208	202900208	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:202900208C>T	ENST00000286201.1	+	1	899	c.838C>T	c.(838-840)Cgg>Tgg	p.R280W	RP11-107N15.1_ENST00000608741.1_lincRNA	NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled class receptor 7	280					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of ectodermal cell fate specification (GO:0042666)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of catenin import into nucleus (GO:0035412)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|stem cell maintenance (GO:0019827)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GGTGGACATGCGGCGCTTCAG	0.662											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000286201.1		NA																	0				breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						c.(838-840)Cgg>Tgg		frizzled family receptor 7							116.0	117.0	117.0					2																	202900208		2203	4300	6503	SO:0001583	missense	8324				axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:202900208C>T	AB010881	CCDS2351.1	2q33	2014-01-29	2014-01-29		ENSG00000155760	ENSG00000155760		"""GPCR / Class F : Frizzled receptors"""	4045	protein-coding gene	gene with protein product		603410	"""frizzled (Drosophila) homolog 7"", ""frizzled homolog 7 (Drosophila)"", ""frizzled 7, seven transmembrane spanning receptor"", ""frizzled family receptor 7"""			9707618, 9813155	Standard	NM_003507		Approved	FzE3	uc002uyw.1	O75084	OTTHUMG00000132841	ENST00000286201.1:c.838C>T	2.37:g.202900208C>T	ENSP00000286201:p.Arg280Trp	False	False		Somatic	0	OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2133		p.R280W	NM_003507.1	NP_003498.1	WXS	Illumina HiSeq	Phase_I	O75084	FZD7_HUMAN			1	899	+			280					O94816|Q53S59|Q96B74	Missense_Mutation	SNP	ENST00000286201.1	37	c.838C>T	CCDS2351.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.097608	0.56075	.	.	ENSG00000155760	ENST00000286201	D	0.82893	-1.66	5.13	3.28	0.37604	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	D	0.88577	0.6474	M	0.71036	2.16	0.58432	D	0.999994	D	0.76494	0.999	P	0.61658	0.892	D	0.89101	0.3489	10	0.72032	D	0.01	.	14.0995	0.65046	0.2941:0.7059:0.0:0.0	.	280	O75084	FZD7_HUMAN	W	280	ENSP00000286201:R280W	ENSP00000286201:R280W	R	+	1	2	FZD7	202608453	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.396000	0.34531	0.677000	0.31305	0.563000	0.77884	CGG		0.662	FZD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256314.1	0	NM_003507		2:202900208
KRTAP5-8	57830	broad.mit.edu	37	11	71249298	71249298	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:71249298C>G	ENST00000398534.3	+	1	228	c.197C>G	c.(196-198)tCc>tGc	p.S66C		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	66	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TGTGGGGGCTCCAAGGGGGAC	0.662																																						ENST00000398534.3		NA																	0				cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						c.(196-198)tCc>tGc		keratin associated protein 5-8							91.0	123.0	112.0					11																	71249298		2195	4294	6489	SO:0001583	missense	57830					extracellular region|keratin filament	structural constituent of epidermis	g.chr11:71249298C>G	AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"""Keratin associated proteins"""	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.197C>G	11.37:g.71249298C>G	ENSP00000420723:p.Ser66Cys	False	False		Somatic	0					p.S66C	NM_021046.2	NP_066384.2	WXS	Illumina HiSeq	Phase_I	O75690	KRA58_HUMAN			1	228	+			66			9 X 4 AA repeats of C-C-X-P.		Q6L8G7|Q6UTX6	Missense_Mutation	SNP	ENST00000398534.3	37	c.197C>G	CCDS41683.1	.	.	.	.	.	.	.	.	.	.	-	0.044	-1.272812	0.01421	.	.	ENSG00000241233	ENST00000398534	T	0.01464	4.86	1.57	-2.72	0.05968	.	.	.	.	.	T	0.00906	0.0030	N	0.05177	-0.1	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.47407	-0.9120	9	0.66056	D	0.02	.	1.4457	0.02364	0.2034:0.2381:0.404:0.1545	.	66	O75690	KRA58_HUMAN	C	66	ENSP00000420723:S66C	ENSP00000420723:S66C	S	+	2	0	KRTAP5-8	70926946	0.625000	0.27111	0.316000	0.25252	0.039000	0.13416	-0.432000	0.06956	-0.741000	0.04797	-0.287000	0.09952	TCC		0.662	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127954.1	0	NM_021046		11:71249298
ZMAT4	79698	broad.mit.edu	37	8	40532397	40532397	+	Missense_Mutation	SNP	C	C	T	rs559636677		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr8:40532397C>T	ENST00000297737.6	-	5	549	c.403G>A	c.(403-405)Gca>Aca	p.A135T	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	135						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TAGGGAGATGCGACCACCGGA	0.517																																						ENST00000297737.6		NA																	0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(403-405)Gca>Aca		zinc finger, matrin-type 4							158.0	159.0	158.0					8																	40532397		2203	4300	6503	SO:0001583	missense	79698					nucleus	DNA binding|zinc ion binding	g.chr8:40532397C>T	AK023904	CCDS34885.1, CCDS47848.1	8p11.21	2012-10-05	2010-09-15		ENSG00000165061	ENSG00000165061		"""Zinc fingers, matrin-type"""	25844	protein-coding gene	gene with protein product						12477932	Standard	NM_024645		Approved	FLJ13842	uc003xnr.3	Q9H898	OTTHUMG00000164049	ENST00000297737.6:c.403G>A	8.37:g.40532397C>T	ENSP00000297737:p.Ala135Thr	False	False		Somatic	0				ZMAT4_ENST00000315769.7_Intron	p.A135T	NM_024645.2	NP_078921.1	WXS	Illumina HiSeq	Phase_I	Q9H898	ZMAT4_HUMAN	LUSC - Lung squamous cell carcinoma(45;0.00722)		5	549	-	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	135					Q8WUT8	Missense_Mutation	SNP	ENST00000297737.6	37	c.403G>A	CCDS34885.1	.	.	.	.	.	.	.	.	.	.	C	8.698	0.909157	0.17833	.	.	ENSG00000165061	ENST00000297737;ENST00000519406	T;T	0.41758	0.99;0.99	5.15	-4.1	0.03940	.	0.842881	0.10911	N	0.620537	T	0.15003	0.0362	N	0.08118	0	0.09310	N	1	B	0.13594	0.008	B	0.04013	0.001	T	0.21759	-1.0236	10	0.15952	T	0.53	-0.6256	2.6729	0.05073	0.1913:0.4688:0.0947:0.2452	.	135	Q9H898	ZMAT4_HUMAN	T	135	ENSP00000297737:A135T;ENSP00000428423:A135T	ENSP00000297737:A135T	A	-	1	0	ZMAT4	40651554	0.000000	0.05858	0.130000	0.21974	0.692000	0.40212	-2.263000	0.01174	-0.981000	0.03520	0.557000	0.71058	GCA		0.517	ZMAT4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376950.1	0	NM_024645		8:40532397
OTOGL	283310	broad.mit.edu	37	12	80747175	80747175	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:80747175C>A	ENST00000547103.1	+	45	5421	c.5415C>A	c.(5413-5415)aaC>aaA	p.N1805K	OTOGL_ENST00000546620.1_5'Flank|OTOGL_ENST00000458043.2_Missense_Mutation_p.N1817K			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1805					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CATGCCTGAACCAATGGTTCT	0.453																																						ENST00000458043.2		NA																	0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						c.(5449-5451)aaC>aaA		otogelin-like							75.0	72.0	73.0					12																	80747175		1946	4133	6079	SO:0001583	missense	283310							g.chr12:80747175C>A	AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.5415C>A	12.37:g.80747175C>A	ENSP00000447211:p.Asn1805Lys	False	False		Somatic	0				OTOGL_ENST00000547103.1_Missense_Mutation_p.N1805K	p.N1817K	NM_173591.3	NP_775862.3	WXS	Illumina HiSeq	Phase_I					45	5457	+			NA					F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	ENST00000547103.1	37	c.5451C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.43|18.43	3.623012|3.623012	0.66901|0.66901	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000547103;ENST00000458043|ENST00000298820	D;D|.	0.81821|.	-1.54;-1.54|.	5.74|5.74	0.755|0.755	0.18415|0.18415	.|.	.|.	.|.	.|.	.|.	T|T	0.67382|0.67382	0.2887|0.2887	M|M	0.90198|0.90198	3.095|3.095	0.28923|0.28923	N|N	0.892009|0.892009	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.63171|0.63171	-0.6697|-0.6697	7|5	0.49607|.	T|.	0.09|.	.|.	8.2181|8.2181	0.31526|0.31526	0.0:0.4404:0.0:0.5596|0.0:0.4404:0.0:0.5596	.|.	.|.	.|.	.|.	K|N	1805;1817|260	ENSP00000447211:N1805K;ENSP00000400895:N1817K|.	ENSP00000400895:N1817K|.	N|T	+|+	3|2	2|0	OTOGL|OTOGL	79271306|79271306	0.609000|0.609000	0.26975|0.26975	0.986000|0.986000	0.45419|0.45419	0.977000|0.977000	0.68977|0.68977	0.756000|0.756000	0.26419|0.26419	0.355000|0.355000	0.24131|0.24131	0.655000|0.655000	0.94253|0.94253	AAC|ACC		0.453	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000407438.1	0	NM_173591		12:80747175
NBPF14	25832	broad.mit.edu	37	1	148017611	148017611	+	Silent	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:148017611A>G	ENST00000369219.1	-	6	688	c.672T>C	c.(670-672)ggT>ggC	p.G224G				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	224	NBPF 2. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					GAGTCGAATAACCTTCATCCC	0.493																																						ENST00000369219.1		NA																	0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42						c.(670-672)ggT>ggC		neuroblastoma breakpoint family, member 14							38.0	48.0	44.0					1																	148017611		1403	2580	3983	SO:0001819	synonymous_variant	25832					cytoplasm		g.chr1:148017611A>G	AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.672T>C	1.37:g.148017611A>G		False	False		Somatic	0					p.G224G			WXS	Illumina HiSeq	Phase_I	Q5TI25	NBPFE_HUMAN			6	688	-	all_hematologic(923;0.032)		224			NBPF 2.		Q5TI23|Q8IX76|Q9UJI9	Silent	SNP	ENST00000369219.1	37	c.672T>C		.	.	.	.	.	.	.	.	.	.	a	0.613	-0.824159	0.02755	.	.	ENSG00000122497	ENST00000310701;ENST00000444640;ENST00000431121;ENST00000436356;ENST00000448574;ENST00000458135;ENST00000392972;ENST00000426874	.	.	.	.	.	.	.	.	.	.	.	T	0.08714	0.0216	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36504	-0.9745	2	.	.	.	.	.	.	.	.	.	.	.	A	230;235;235;235;235;235;235;235	.	.	V	-	2	0	NBPF14	146484235	0.998000	0.40836	0.001000	0.08648	0.001000	0.01503	0.794000	0.26958	-0.557000	0.06126	-0.558000	0.04189	GTT		0.493	NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		0	NM_015383		1:148017611
PKD2	5311	broad.mit.edu	37	4	88986632	88986632	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:88986632G>A	ENST00000508588.1	+	6	874	c.479G>A	c.(478-480)cGa>cAa	p.R160Q	PKD2_ENST00000502363.1_Missense_Mutation_p.R160Q|PKD2_ENST00000237596.2_Missense_Mutation_p.R742Q|PKD2_ENST00000511337.1_3'UTR			Q9BZL6	KPCD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	0					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|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 fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		GACGAACTTCGACAAGATCTC	0.403																																						ENST00000237596.2		NA																	0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36						c.(2224-2226)cGa>cAa		polycystic kidney disease 2 (autosomal dominant)							84.0	80.0	81.0					4																	88986632		2203	4300	6503	SO:0001583	missense	5311					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity	g.chr4:88986632G>A	U50928	CCDS3627.1	4q22.1	2014-01-28			ENSG00000118762	ENSG00000118762		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""EF-hand domain containing"""	9009	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 2"""	173910				8298643	Standard	NM_000297		Approved	PKD4, PC2, Pc-2, TRPP2	uc003hre.3	Q13563	OTTHUMG00000160982	ENST00000508588.1:c.479G>A	4.37:g.88986632G>A	ENSP00000427131:p.Arg160Gln	False	False		Somatic	0				PKD2_ENST00000511337.1_3'UTR|PKD2_ENST00000502363.1_Missense_Mutation_p.R160Q|PKD2_ENST00000508588.1_Missense_Mutation_p.R160Q	p.R742Q	NM_000297.3	NP_000288.1	WXS	Illumina HiSeq	Phase_I	Q13563	PKD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)	11	2291	+		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)	742			EF-hand domain.		Q8TB08|Q9P0T6|Q9Y3X8	Missense_Mutation	SNP	ENST00000508588.1	37	c.2225G>A		.	.	.	.	.	.	.	.	.	.	G	23.2	4.381910	0.82792	.	.	ENSG00000118762	ENST00000237596;ENST00000508588;ENST00000502363	T;T;T	0.56103	0.48;0.48;0.48	5.89	5.03	0.67393	EF-hand-like domain (1);	0.062020	0.64402	D	0.000003	T	0.69584	0.3127	M	0.67397	2.05	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.70146	-0.4952	10	0.40728	T	0.16	-9.2108	16.2716	0.82624	0.0:0.0:0.8663:0.1336	.	742	Q13563	PKD2_HUMAN	Q	742;160;160	ENSP00000237596:R742Q;ENSP00000427131:R160Q;ENSP00000425289:R160Q	ENSP00000237596:R742Q	R	+	2	0	PKD2	89205656	1.000000	0.71417	0.988000	0.46212	0.998000	0.95712	7.580000	0.82523	1.454000	0.47793	0.655000	0.94253	CGA		0.403	PKD2-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000363253.2	0	NM_000297		4:88986632
GALNT13	114805	broad.mit.edu	37	2	155099379	155099379	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:155099379G>A	ENST00000392825.3	+	6	1214	c.647G>A	c.(646-648)gGa>gAa	p.G216E	GALNT13_ENST00000409237.1_Missense_Mutation_p.G216E	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	216	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGCACGTTAGGATGGCTGGAG	0.473																																						ENST00000392825.3		NA																	0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						c.(646-648)gGa>gAa		UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)							82.0	77.0	79.0					2																	155099379		2203	4300	6503	SO:0001583	missense	114805					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:155099379G>A	AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.647G>A	2.37:g.155099379G>A	ENSP00000376570:p.Gly216Glu	False	False		Somatic	0				GALNT13_ENST00000409237.1_Missense_Mutation_p.G216E	p.G216E	NM_052917.2	NP_443149.2	WXS	Illumina HiSeq	Phase_I	Q8IUC8	GLT13_HUMAN			6	1214	+			216			Catalytic subdomain A.		Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	c.647G>A	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	G	32	5.189933	0.94923	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.59224	0.28;0.28	5.82	5.82	0.92795	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.78792	0.4339	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.80091	-0.1527	10	0.66056	D	0.02	.	19.0704	0.93134	0.0:0.0:1.0:0.0	.	216;216;216	B3KY85;Q08ER7;Q8IUC8	.;.;GLT13_HUMAN	E	216	ENSP00000376570:G216E;ENSP00000387239:G216E	ENSP00000376570:G216E	G	+	2	0	GALNT13	154807625	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	9.864000	0.99589	2.747000	0.94245	0.591000	0.81541	GGA		0.473	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	0	NM_052917		2:155099379
TBC1D14	57533	broad.mit.edu	37	4	7011659	7011659	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:7011659G>A	ENST00000409757.4	+	10	1626	c.1502G>A	c.(1501-1503)cGg>cAg	p.R501Q	TBC1D14_ENST00000410031.1_Missense_Mutation_p.R273Q|TBC1D14_ENST00000448507.1_Missense_Mutation_p.R501Q|TBC1D14_ENST00000446947.2_Missense_Mutation_p.R148Q|TBC1D14_ENST00000451522.2_Missense_Mutation_p.R221Q	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	501	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						ACTTGTTACCGGCCAGATGTG	0.383																																						ENST00000409757.4		NA																	0				breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						c.(1501-1503)cGg>cAg		TBC1 domain family, member 14							314.0	287.0	296.0					4																	7011659		2203	4300	6503	SO:0001583	missense	57533					intracellular	Rab GTPase activator activity	g.chr4:7011659G>A	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.1502G>A	4.37:g.7011659G>A	ENSP00000386921:p.Arg501Gln	False	False		Somatic	0				TBC1D14_ENST00000446947.2_Missense_Mutation_p.R148Q|TBC1D14_ENST00000451522.2_Missense_Mutation_p.R221Q|TBC1D14_ENST00000448507.1_Missense_Mutation_p.R501Q|TBC1D14_ENST00000410031.1_Missense_Mutation_p.R273Q	p.R501Q	NM_020773.2	NP_065824.2	WXS	Illumina HiSeq	Phase_I	Q9P2M4	TBC14_HUMAN			10	1626	+			501			Rab-GAP TBC.		B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	37	c.1502G>A	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	G	35	5.575886	0.96553	.	.	ENSG00000132405	ENST00000448507;ENST00000409757;ENST00000410031;ENST00000451522;ENST00000439515;ENST00000446947	T;T;T;T;T;T	0.04360	3.64;3.64;3.64;3.64;3.64;3.64	5.82	5.82	0.92795	Rab-GAP/TBC domain (4);	0.000000	0.85682	D	0.000000	T	0.25005	0.0607	M	0.87180	2.865	0.80722	D	1	D;D;D	0.71674	0.998;0.977;0.978	P;P;P	0.60541	0.876;0.746;0.727	T	0.00814	-1.1555	10	0.66056	D	0.02	-14.4235	19.0811	0.93182	0.0:0.0:1.0:0.0	.	148;221;501	F5GXK4;Q9P2M4-2;Q9P2M4	.;.;TBC14_HUMAN	Q	501;501;273;221;154;148	ENSP00000404041:R501Q;ENSP00000386921:R501Q;ENSP00000386343:R273Q;ENSP00000388886:R221Q;ENSP00000389082:R154Q;ENSP00000405875:R148Q	ENSP00000386921:R501Q	R	+	2	0	TBC1D14	7062560	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.361000	0.97122	2.756000	0.94617	0.561000	0.74099	CGG		0.383	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	0	NM_020773		4:7011659
IKBKB	3551	broad.mit.edu	37	8	42129663	42129663	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr8:42129663G>A	ENST00000520810.1	+	2	231	c.45G>A	c.(43-45)tgG>tgA	p.W15*	RP11-231D20.2_ENST00000520890.1_RNA|IKBKB_ENST00000519735.1_Nonsense_Mutation_p.W15*|RP11-231D20.2_ENST00000523459.1_RNA|IKBKB_ENST00000416505.2_5'UTR|RP11-231D20.2_ENST00000518994.1_RNA|IKBKB_ENST00000520835.1_Intron|RP11-231D20.2_ENST00000518213.1_RNA|IKBKB_ENST00000379708.3_5'UTR|IKBKB_ENST00000518983.1_Nonsense_Mutation_p.W15*|IKBKB_ENST00000522147.1_Nonsense_Mutation_p.W15*	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	15	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	GTGGGGCCTGGGAAATGAAAG	0.537																																						ENST00000520810.1		NA																	0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.(43-45)tgG>tgA		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						117.0	117.0	117.0					8																	42129663		2203	4300	6503	SO:0001587	stop_gained	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42129663G>A	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.45G>A	8.37:g.42129663G>A	ENSP00000430684:p.Trp15*	True	False		Somatic	0				IKBKB_ENST00000522147.1_Nonsense_Mutation_p.W15*|IKBKB_ENST00000520835.1_Intron|IKBKB_ENST00000416505.2_5'UTR|IKBKB_ENST00000379708.3_5'UTR|IKBKB_ENST00000518983.1_Nonsense_Mutation_p.W15*|IKBKB_ENST00000519735.1_Nonsense_Mutation_p.W15*	p.W15*	NM_001556.2	NP_001547.1	WXS	Illumina HiSeq	Phase_I	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		2	231	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	15			Protein kinase.		B4DZ30|B4E0U4|O75327	Nonsense_Mutation	SNP	ENST00000520810.1	37	c.45G>A	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	42	9.636366	0.99226	.	.	ENSG00000104365	ENST00000520810;ENST00000519735;ENST00000518983;ENST00000522147	.	.	.	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7992	0.63190	0.0:0.0:1.0:0.0	.	.	.	.	X	15	.	ENSP00000339151:W15X	W	+	3	0	IKBKB	42248820	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.652000	0.67959	2.392000	0.81423	0.655000	0.94253	TGG		0.537	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1	0			8:42129663
SLC36A2	153201	broad.mit.edu	37	5	150715058	150715058	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr5:150715058C>T	ENST00000335244.4	-	6	705	c.576G>A	c.(574-576)acG>acA	p.T192T	SLC36A2_ENST00000521967.1_Silent_p.T192T	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	192					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	TCAGAATCACCGTCTCATTGG	0.522																																						ENST00000335244.4		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						c.(574-576)acG>acA		solute carrier family 36 (proton/amino acid symporter), member 2							255.0	236.0	243.0					5																	150715058		2203	4300	6503	SO:0001819	synonymous_variant	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150715058C>T	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.576G>A	5.37:g.150715058C>T		False	False		Somatic	0				SLC36A2_ENST00000521967.1_Silent_p.T192T	p.T192T	NM_181776.2	NP_861441.2	WXS	Illumina HiSeq	Phase_I	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		6	705	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	192					Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Silent	SNP	ENST00000335244.4	37	c.576G>A	CCDS4315.1																																																																																				0.522	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1	0			5:150715058
USH2A	7399	broad.mit.edu	37	1	216061988	216061988	+	Missense_Mutation	SNP	T	T	C	rs267598377		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:216061988T>C	ENST00000307340.3	-	41	8389	c.8003A>G	c.(8002-8004)gAa>gGa	p.E2668G	USH2A_ENST00000366943.2_Missense_Mutation_p.E2668G|RP5-1111A8.3_ENST00000414995.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2668	Fibronectin type-III 13. {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)		GGTAGTAACTTCTTCCTTTCC	0.448										HNSCC(13;0.011)																												ENST00000366943.2		NA																	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.(8002-8004)gAa>gGa		Usher syndrome 2A (autosomal recessive, mild)							83.0	89.0	87.0					1																	216061988		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.chr1:216061988T>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.8003A>G	1.37:g.216061988T>C	ENSP00000305941:p.Glu2668Gly	False	False	HNSCC(13;0.011)	Somatic	0				RP5-1111A8.3_ENST00000414995.1_RNA|USH2A_ENST00000307340.3_Missense_Mutation_p.E2668G	p.E2668G			WXS	Illumina HiSeq	Phase_I	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	41	8389	-			2668			Fibronectin type-III 13.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.8003A>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	12.06	1.823185	0.32237	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.57752	0.38;0.38	5.84	3.43	0.39272	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.755657	0.11112	N	0.598495	T	0.53642	0.1809	L	0.56396	1.775	0.33957	D	0.645209	B	0.32653	0.379	B	0.38378	0.272	T	0.56553	-0.7960	10	0.31617	T	0.26	.	12.7182	0.57127	0.0:0.0:0.2598:0.7402	.	2668	O75445	USH2A_HUMAN	G	2668	ENSP00000305941:E2668G;ENSP00000355910:E2668G	ENSP00000305941:E2668G	E	-	2	0	USH2A	214128611	1.000000	0.71417	0.178000	0.23040	0.663000	0.39108	3.614000	0.54160	0.422000	0.26005	0.533000	0.62120	GAA		0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	0	NM_007123		1:216061988
CNTRL	11064	broad.mit.edu	37	9	123937395	123937395	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:123937395G>A	ENST00000373855.1	+	43	7107	c.6847G>A	c.(6847-6849)Gct>Act	p.A2283T	CNTRL_ENST00000373850.1_Missense_Mutation_p.A1731T|CNTRL_ENST00000373845.2_3'UTR|CNTRL_ENST00000238341.5_Missense_Mutation_p.A2283T			Q7Z7A1	CNTRL_HUMAN	centriolin	2283	Sufficient for interaction with HOOK2.				cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						ACAAGTAGATGCTTTAGGGGA	0.498																																						ENST00000373855.1		NA																	0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(2)|ovary(4)|skin(3)	20						c.(6847-6849)Gct>Act		centriolin							138.0	133.0	135.0					9																	123937395		2203	4300	6503	SO:0001583	missense	11064				cell division|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding	g.chr9:123937395G>A	AF513978	CCDS35118.1	9q33.2	2014-02-20	2011-05-23	2011-05-23	ENSG00000119397	ENSG00000119397			1858	protein-coding gene	gene with protein product		605496	"""centrosomal protein 1"", ""centrosomal protein 110kDa"""	CEP1, CEP110		10688839	Standard	XM_005251679		Approved		uc004bkx.1	Q7Z7A1	OTTHUMG00000020581	ENST00000373855.1:c.6847G>A	9.37:g.123937395G>A	ENSP00000362962:p.Ala2283Thr	False	False		Somatic	0				CNTRL_ENST00000373850.1_Missense_Mutation_p.A1731T|CNTRL_ENST00000238341.5_Missense_Mutation_p.A2283T|CNTRL_ENST00000373845.2_3'UTR	p.A2283T			WXS	Illumina HiSeq	Phase_I	Q7Z7A1	CNTRL_HUMAN			43	7107	+			2283			Sufficient for interaction with HOOK2.		A2A2Y1|B2RP67|Q3MN79|Q5FWF8|Q5JVD0|Q6MZR3|Q6PKC1|Q8TEP3|Q9Y489	Missense_Mutation	SNP	ENST00000373855.1	37	c.6847G>A	CCDS35118.1	.	.	.	.	.	.	.	.	.	.	G	13.88	2.368628	0.42003	.	.	ENSG00000119397	ENST00000373855;ENST00000238341;ENST00000454238;ENST00000394368;ENST00000373850;ENST00000373845	T;T;T	0.35973	1.64;1.64;1.28	5.33	5.33	0.75918	.	.	.	.	.	T	0.37517	0.1006	M	0.61703	1.905	0.43355	D	0.995422	B	0.18310	0.027	B	0.15052	0.012	T	0.20974	-1.0259	9	0.16420	T	0.52	.	18.0072	0.89213	0.0:0.0:1.0:0.0	.	2283	Q7Z7A1	CNTRL_HUMAN	T	2283;2283;2283;440;1731;965	ENSP00000362962:A2283T;ENSP00000238341:A2283T;ENSP00000362956:A1731T	ENSP00000238341:A2283T	A	+	1	0	CNTRL	122977216	0.975000	0.34042	0.844000	0.33320	0.895000	0.52256	3.716000	0.54904	2.479000	0.83701	0.555000	0.69702	GCT		0.498	CNTRL-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250216.1	0	NM_007018		9:123937395
CCT6P1	643253	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		AGGTTCTTGCGCAGAATTCTG	0.383																																						ENST00000442266.1		NA																	0					NA																																														0							g.chr7:65226641G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65226641G>T		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1167	+			NA						RNA	SNP	ENST00000442266.1	37																																																																																						0.383	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	0	NR_003110		7:65226641
POMZP3	22932	broad.mit.edu	37	7	76254991	76254991	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:76254991C>G	ENST00000310842.4	-	3	759	c.75G>C	c.(73-75)caG>caC	p.Q25H	UPK3B_ENST00000443097.2_Intron|AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000419923.2_Intron|POMZP3_ENST00000275569.4_Missense_Mutation_p.Q25H	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	25										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				AGCTGATTATCTGCTCTGGTC	0.418																																						ENST00000310842.4		NA																	0				kidney(3)|lung(2)	5						c.(73-75)caG>caC		POM121 and ZP3 fusion							201.0	186.0	191.0					7																	76254991		2203	4300	6503	SO:0001583	missense	22932							g.chr7:76254991C>G	U10099	CCDS5590.1, CCDS43606.1	7q11.2	2010-06-24	2010-06-24		ENSG00000146707	ENSG00000146707			9203	protein-coding gene	gene with protein product	"""POM-ZP3 fusion protein"", ""POM121/ZP3 fusion protein"""	600587	"""POM (POM121 rat homolog) and ZP3 fusion"", ""POM (POM121 homolog, rat) and ZP3 fusion"""			7789967	Standard	NM_012230		Approved	POM-ZP3, POM121	uc003uft.3	Q6PJE2	OTTHUMG00000023514	ENST00000310842.4:c.75G>C	7.37:g.76254991C>G	ENSP00000309233:p.Gln25His	False	False		Somatic	0				UPK3B_ENST00000443097.2_Intron|AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000419923.2_Intron|POMZP3_ENST00000275569.4_Missense_Mutation_p.Q25H	p.Q25H	NM_012230.3	NP_036362.3	WXS	Illumina HiSeq	Phase_I	Q6PJE2	POZP3_HUMAN			3	759	-		Myeloproliferative disorder(862;0.204)	25					F6STJ3|Q12903|Q9BWB4	Missense_Mutation	SNP	ENST00000310842.4	37	c.75G>C	CCDS43606.1	.	.	.	.	.	.	.	.	.	.	c	11.27	1.590335	0.28357	.	.	ENSG00000146707	ENST00000275569;ENST00000310842;ENST00000454397	T;T	0.32515	1.88;1.45	0.694	0.694	0.18062	.	0.120055	0.56097	U	0.000036	T	0.22360	0.0539	L	0.52266	1.64	0.09310	N	1	P	0.50156	0.932	B	0.40782	0.34	T	0.16748	-1.0392	10	0.66056	D	0.02	.	4.8171	0.13372	0.0:1.0:0.0:0.0	.	25	Q6PJE2	POZP3_HUMAN	H	25	ENSP00000309233:Q25H;ENSP00000405319:Q25H	ENSP00000275569:Q25H	Q	-	3	2	POMZP3	76092927	0.643000	0.27269	0.070000	0.20053	0.785000	0.44390	0.650000	0.24858	0.690000	0.31570	0.472000	0.43445	CAG		0.418	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341775.1	0	NM_012230		7:76254991
MATN1	4146	broad.mit.edu	37	1	31191606	31191606	+	Silent	SNP	T	T	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:31191606T>G	ENST00000373765.4	-	3	675	c.640A>C	c.(640-642)Agg>Cgg	p.R214R	MATN1-AS1_ENST00000414532.2_RNA|MATN1-AS1_ENST00000414763.1_RNA|MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000454613.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	214	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAACTTCCTGGACAGCTTC	0.706																																						ENST00000373765.4		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(640-642)Agg>Cgg		matrilin 1, cartilage matrix protein							42.0	38.0	39.0					1																	31191606		2203	4300	6503	SO:0001819	synonymous_variant	4146				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:31191606T>G	M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.640A>C	1.37:g.31191606T>G		False	False		Somatic	0				MATN1-AS1_ENST00000414532.2_RNA|MATN1_ENST00000477320.1_5'UTR	p.R214R	NM_002379.3	NP_002370.1	WXS	Illumina HiSeq	Phase_I	P21941	MATN1_HUMAN		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)	3	675	-		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	214			VWFA 1.		B2R7E3|Q5TBB9	Silent	SNP	ENST00000373765.4	37	c.640A>C	CCDS336.1																																																																																				0.706	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	0	NM_002379		1:31191606
GABRG3	2567	broad.mit.edu	37	15	27777959	27777959	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr15:27777959C>T	ENST00000333743.6	+	10	1590	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	446					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTCGTACTCCCGGGTCTTTTT	0.473																																					NSCLC(114;800 1656 7410 37729 45293)	ENST00000333743.6		NA																	0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42						c.(1336-1338)Cgg>Tgg		gamma-aminobutyric acid (GABA) A receptor, gamma 3							76.0	78.0	77.0					15																	27777959		1956	4136	6092	SO:0001583	missense	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27777959C>T		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.1336C>T	15.37:g.27777959C>T	ENSP00000331912:p.Arg446Trp	True	False		Somatic	0				RP11-100M12.3_ENST00000556642.1_RNA	p.R446W	NM_033223.4	NP_150092.2	WXS	Illumina HiSeq	Phase_I	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	10	1590	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	446					G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	ENST00000333743.6	37	c.1336C>T	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852493	0.71719	.	.	ENSG00000182256	ENST00000333743	D	0.86366	-2.11	5.75	2.63	0.31362	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.061993	0.64402	D	0.000007	D	0.93327	0.7873	M	0.89715	3.055	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92650	0.6132	10	0.87932	D	0	.	9.021	0.36200	0.471:0.4096:0.1194:0.0	.	446	Q99928	GBRG3_HUMAN	W	446	ENSP00000331912:R446W	ENSP00000331912:R446W	R	+	1	2	GABRG3	25451554	0.997000	0.39634	0.480000	0.27341	0.902000	0.53008	3.752000	0.55172	0.748000	0.32831	0.650000	0.86243	CGG		0.473	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2	0			15:27777959
NPY1R	4886	broad.mit.edu	37	4	164246771	164246771	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:164246771G>A	ENST00000296533.2	-	3	1370	c.839C>T	c.(838-840)aCc>aTc	p.T280I	NPY1R_ENST00000509586.1_Missense_Mutation_p.T37I	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	280					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|glucose metabolic process (GO:0006006)|locomotory behavior (GO:0007626)|neuropeptide signaling pathway (GO:0007218)|outflow tract morphogenesis (GO:0003151)|regulation of blood pressure (GO:0008217)|regulation of multicellular organism growth (GO:0040014)|sensory perception of pain (GO:0019233)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)|pancreatic polypeptide receptor activity (GO:0001602)|peptide YY receptor activity (GO:0001601)			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GTTAAAGATGGTAAGAGGGAG	0.428																																						ENST00000296533.2		NA																	0				breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30						c.(838-840)aCc>aTc		neuropeptide Y receptor Y1							84.0	82.0	83.0					4																	164246771		2203	4300	6503	SO:0001583	missense	0				inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding	g.chr4:164246771G>A		CCDS34089.1	4q31.3-q32	2012-08-08				ENSG00000164128		"""GPCR / Class A : Neuropeptide receptors : Y"""	7956	protein-coding gene	gene with protein product		162641		NPYR		8095935	Standard	NM_000909		Approved		uc003iqm.2	P25929		ENST00000296533.2:c.839C>T	4.37:g.164246771G>A	ENSP00000354652:p.Thr280Ile	False	False		Somatic	0				NPY1R_ENST00000509586.1_Missense_Mutation_p.T37I	p.T280I	NM_000909.5	NP_000900.1	WXS	Illumina HiSeq	Phase_I	P25929	NPY1R_HUMAN			3	1370	-	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)	280					B2R6H5	Missense_Mutation	SNP	ENST00000296533.2	37	c.839C>T	CCDS34089.1	.	.	.	.	.	.	.	.	.	.	G	11.74	1.729970	0.30684	.	.	ENSG00000164128	ENST00000296533;ENST00000509586;ENST00000504391	T;T;T	0.54479	0.57;0.57;1.24	5.71	5.71	0.89125	GPCR, rhodopsin-like superfamily (1);	0.544480	0.19310	N	0.117412	T	0.50309	0.1608	L	0.47016	1.485	0.40849	D	0.983732	P	0.36027	0.533	B	0.40038	0.317	T	0.49495	-0.8934	10	0.39692	T	0.17	.	13.1127	0.59283	0.073:0.0:0.927:0.0	.	280	P25929	NPY1R_HUMAN	I	280;37;37	ENSP00000354652:T280I;ENSP00000427284:T37I;ENSP00000422963:T37I	ENSP00000354652:T280I	T	-	2	0	NPY1R	164466221	1.000000	0.71417	0.997000	0.53966	0.623000	0.37688	2.769000	0.47654	2.702000	0.92279	0.563000	0.77884	ACC		0.428	NPY1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364685.1	0			4:164246771
RP11-156P1.3	0	broad.mit.edu	37	17	45128735	45128735	+	RNA	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr17:45128735T>C	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GAAATACTAATGATTTTTATT	0.323																																						ENST00000575173.1		NA																	0					NA																																														0							g.chr17:45128735T>C																													17.37:g.45128735T>C		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	418	-			NA						RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1	0			17:45128735
SLC24A2	25769	broad.mit.edu	37	9	19786147	19786147	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:19786147G>A	ENST00000341998.2	-	1	779	c.718C>T	c.(718-720)Cga>Tga	p.R240*	SLC24A2_ENST00000286344.3_Nonsense_Mutation_p.R240*	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	240					cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	cadmium ion binding (GO:0046870)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium, potassium:sodium antiporter activity (GO:0008273)|manganese ion binding (GO:0030145)|nickel cation binding (GO:0016151)|potassium ion binding (GO:0030955)|sodium ion binding (GO:0031402)|symporter activity (GO:0015293)			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GACACATCTCGAAAGAGCGGC	0.398																																						ENST00000341998.2		NA																	0				endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						c.(718-720)Cga>Tga		solute carrier family 24 (sodium/potassium/calcium exchanger), member 2							93.0	87.0	89.0					9																	19786147		2203	4300	6503	SO:0001587	stop_gained	25769				visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr9:19786147G>A	AF097366	CCDS6493.1, CCDS55297.1	9p22.1	2013-05-22			ENSG00000155886	ENSG00000155886		"""Solute carriers"""	10976	protein-coding gene	gene with protein product		609838				10662833	Standard	NM_020344		Approved	NCKX2	uc003zoa.2	Q9UI40	OTTHUMG00000019646	ENST00000341998.2:c.718C>T	9.37:g.19786147G>A	ENSP00000344801:p.Arg240*	True	False		Somatic	0				SLC24A2_ENST00000286344.3_Nonsense_Mutation_p.R240*	p.R240*	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	WXS	Illumina HiSeq	Phase_I	Q9UI40	NCKX2_HUMAN		GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)	1	779	-			240					B7ZLL8|Q9NTN5|Q9NZQ4	Nonsense_Mutation	SNP	ENST00000341998.2	37	c.718C>T	CCDS6493.1	.	.	.	.	.	.	.	.	.	.	G	37	6.631099	0.97718	.	.	ENSG00000155886	ENST00000341998;ENST00000286344	.	.	.	5.91	2.77	0.32553	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.9975	0.47585	0.0676:0.0:0.6657:0.2667	.	.	.	.	X	240	.	.	R	-	1	2	SLC24A2	19776147	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.261000	0.43276	0.806000	0.34183	0.655000	0.94253	CGA		0.398	SLC24A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051866.2	0	NM_020344		9:19786147
KIAA1210	57481	broad.mit.edu	37	X	118221146	118221146	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:118221146C>A	ENST00000402510.2	-	11	4046	c.4047G>T	c.(4045-4047)aaG>aaT	p.K1349N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1349										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TCACTGGGCCCTTTGATGACA	0.473																																						ENST00000402510.2		NA																	0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(4045-4047)aaG>aaT		KIAA1210							213.0	203.0	206.0					X																	118221146		1956	4136	6092	SO:0001583	missense	57481							g.chrX:118221146C>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.4047G>T	X.37:g.118221146C>A	ENSP00000384670:p.Lys1349Asn	True	False		Somatic	0					p.K1349N	NM_020721.1	NP_065772.1	WXS	Illumina HiSeq	Phase_I	Q9ULL0	K1210_HUMAN			11	4046	-			1349					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.4047G>T	CCDS48156.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	4.053|4.053	0.007534|0.007534	0.07866|0.07866	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.10382	.|2.88	4.47|4.47	-5.1|-5.1	0.02911|0.02911	.|.	.|.	.|.	.|.	.|.	T|T	0.03827|0.03827	0.0108|0.0108	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.29508	.|0.246	.|B	.|0.23716	.|0.048	T|T	0.44298|0.44298	-0.9337|-0.9337	5|9	.|0.18276	.|T	.|0.48	.|.	7.1739|7.1739	0.25734|0.25734	0.0:0.1921:0.1243:0.6836|0.0:0.1921:0.1243:0.6836	.|.	.|1349	.|Q9ULL0	.|K1210_HUMAN	W|N	756|1349	.|ENSP00000384670:K1349N	.|ENSP00000384670:K1349N	G|K	-|-	1|3	0|2	KIAA1210|RP13-347D8.6	118105174|118105174	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.044000|-0.044000	0.12023|0.12023	-1.290000|-1.290000	0.02372|0.02372	-0.322000|-0.322000	0.08575|0.08575	GGG|AAG		0.473	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	0	NM_020721		X:118221146
UGGT2	55757	broad.mit.edu	37	13	96675949	96675949	+	Silent	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:96675949G>A	ENST00000376747.3	-	3	376	c.306C>T	c.(304-306)caC>caT	p.H102H	UGGT2_ENST00000376714.3_Silent_p.H102H|UGGT2_ENST00000397618.3_Silent_p.H102H|UGGT2_ENST00000376712.4_Silent_p.H102H	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	102					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						AAAGGTTGATGTGTAAATTGT	0.328																																						ENST00000376747.3		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(304-306)caC>caT		UDP-glucose glycoprotein glucosyltransferase 2							100.0	101.0	101.0					13																	96675949		2203	4300	6503	SO:0001819	synonymous_variant	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96675949G>A	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.306C>T	13.37:g.96675949G>A		False	False		Somatic	0				UGGT2_ENST00000376712.4_Silent_p.H102H|UGGT2_ENST00000376714.3_Silent_p.H102H|UGGT2_ENST00000397618.3_Silent_p.H102H	p.H102H	NM_020121.3	NP_064506.3	WXS	Illumina HiSeq	Phase_I	Q9NYU1	UGGG2_HUMAN			3	376	-			102					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Silent	SNP	ENST00000376747.3	37	c.306C>T	CCDS9480.1																																																																																				0.328	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	0	NM_020121		13:96675949
ANKS3	124401	broad.mit.edu	37	16	4752111	4752111	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr16:4752111C>T	ENST00000304283.4	-	9	1295	c.1001G>A	c.(1000-1002)aGc>aAc	p.S334N	ANKS3_ENST00000585773.1_Missense_Mutation_p.S261N|ANKS3_ENST00000446014.2_Missense_Mutation_p.S205N|ANKS3_ENST00000450067.2_Missense_Mutation_p.S128N	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	334	Ser-rich.									endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						ACCCCGActgctgctgctgct	0.662																																						ENST00000304283.4		NA																	0				endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						c.(1000-1002)aGc>aAc		ankyrin repeat and sterile alpha motif domain containing 3							22.0	23.0	23.0					16																	4752111		2197	4299	6496	SO:0001583	missense	124401							g.chr16:4752111C>T	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1001G>A	16.37:g.4752111C>T	ENSP00000304586:p.Ser334Asn	True	False		Somatic	0				ANKS3_ENST00000585773.1_Missense_Mutation_p.S261N|ANKS3_ENST00000450067.2_Missense_Mutation_p.S128N|ANKS3_ENST00000446014.2_Missense_Mutation_p.S205N	p.S334N	NM_133450.3	NP_597707.1	WXS	Illumina HiSeq	Phase_I	Q6ZW76	ANKS3_HUMAN			9	1295	-			334			Ser-rich.		B4DWU4|D3DUE2|Q8TF25	Missense_Mutation	SNP	ENST00000304283.4	37	c.1001G>A	CCDS10520.1	.	.	.	.	.	.	.	.	.	.	C	19.62	3.860829	0.71834	.	.	ENSG00000168096	ENST00000304283;ENST00000446014;ENST00000450067	T;T;T	0.55588	0.93;2.65;0.51	5.53	5.53	0.82687	.	0.199023	0.42420	D	0.000704	T	0.70263	0.3204	M	0.68952	2.095	0.42380	D	0.992485	D;B	0.76494	0.999;0.32	D;B	0.64877	0.93;0.249	T	0.69533	-0.5120	10	0.46703	T	0.11	-11.6641	18.8095	0.92053	0.0:1.0:0.0:0.0	.	128;334	Q6ZWA7;Q6ZW76	.;ANKS3_HUMAN	N	334;205;128	ENSP00000304586:S334N;ENSP00000406796:S205N;ENSP00000388270:S128N	ENSP00000304586:S334N	S	-	2	0	ANKS3	4692112	1.000000	0.71417	1.000000	0.80357	0.850000	0.48378	6.139000	0.71728	2.769000	0.95229	0.655000	0.94253	AGC		0.662	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	0	NM_133450		16:4752111
MYF6	4618	broad.mit.edu	37	12	81101627	81101627	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:81101627C>T	ENST00000228641.3	+	1	351	c.129C>T	c.(127-129)ccC>ccT	p.P43P		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	43					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CCTTGTCCCCCTGCCAGGACC	0.597																																						ENST00000228641.3		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						c.(127-129)ccC>ccT		myogenic factor 6 (herculin)							69.0	72.0	71.0					12																	81101627		2203	4300	6503	SO:0001819	synonymous_variant	4618				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81101627C>T		CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.129C>T	12.37:g.81101627C>T		True	False		Somatic	0					p.P43P	NM_002469.2	NP_002460.1	WXS	Illumina HiSeq	Phase_I	P23409	MYF6_HUMAN			1	351	+			43					B2R898|Q53X80|Q6FHI9	Silent	SNP	ENST00000228641.3	37	c.129C>T	CCDS9019.1																																																																																				0.597	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	0	NM_002469		12:81101627
EYS	346007	broad.mit.edu	37	6	66063349	66063349	+	Splice_Site	SNP	A	A	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:66063349A>T	ENST00000370621.3	-	9	1986		c.e9+1		EYS_ENST00000342421.5_Splice_Site|EYS_ENST00000503581.1_Splice_Site|EYS_ENST00000370618.3_Splice_Site|EYS_ENST00000393380.2_Splice_Site|EYS_ENST00000370616.2_Splice_Site			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)						detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TAAATTTGTTACCTGCAAATC	0.333																																						ENST00000503581.1		NA																	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						c.e9+1		eyes shut homolog (Drosophila)							65.0	63.0	64.0					6																	66063349		2203	4300	6503	SO:0001630	splice_region_variant	346007				response to stimulus|visual perception	extracellular region	calcium ion binding	g.chr6:66063349A>T		CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.1459+1T>A	6.37:g.66063349A>T		False	False		Somatic	0				EYS_ENST00000370621.3_Splice_Site|EYS_ENST00000342421.5_Splice_Site|EYS_ENST00000370618.3_Splice_Site|EYS_ENST00000393380.2_Splice_Site|EYS_ENST00000370616.2_Splice_Site		NM_001142800.1	NP_001136272.1	WXS	Illumina HiSeq	Phase_I	Q5T1H1	EYS_HUMAN			9	1997	-			NA					A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Splice_Site	SNP	ENST00000370621.3	37			.	.	.	.	.	.	.	.	.	.	A	8.880	0.951312	0.18431	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616;ENST00000393380;ENST00000342421;ENST00000370618	.	.	.	4.0	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.2851	0.43562	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	EYS	66120070	0.986000	0.35501	0.153000	0.22517	0.081000	0.17604	2.533000	0.45667	1.441000	0.47550	0.482000	0.46254	.		0.333	EYS-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351351.3	0	XM_294050	Intron	6:66063349
ZSCAN2	54993	broad.mit.edu	37	15	85147523	85147523	+	Missense_Mutation	SNP	C	C	T	rs142869560		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr15:85147523C>T	ENST00000448803.2	+	2	657	c.365C>T	c.(364-366)gCg>gTg	p.A122V	ZSCAN2_ENST00000327179.6_Missense_Mutation_p.A122V|ZSCAN2_ENST00000538076.1_Missense_Mutation_p.A122V|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.A122V|ZSCAN2_ENST00000485222.2_Missense_Mutation_p.A122V|ZSCAN2_ENST00000334141.3_Missense_Mutation_p.A122V|ZSCAN2_ENST00000379358.3_Missense_Mutation_p.A122V|ZSCAN2_ENST00000358472.3_Intron|ZSCAN2_ENST00000541040.1_Missense_Mutation_p.A122V	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	122	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GAGGAGGCAGCGGCCCTGGTG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		22777	0.001		0.0	False		,,,				2504	0.0					ENST00000448803.2		NA																	0				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19						c.(364-366)gCg>gTg		zinc finger and SCAN domain containing 2		C	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	63.0	56.0	58.0		365,365,365	-1.3	0.1	15	dbSNP_134	58	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense	ZSCAN2	NM_001007072.1,NM_017894.5,NM_181877.3	64,64,64	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	122/147,122/151,122/615	85147523	1,13003	2203	4299	6502	SO:0001583	missense	54993				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:85147523C>T	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.365C>T	15.37:g.85147523C>T	ENSP00000410198:p.Ala122Val	False	False		Somatic	0				ZSCAN2_ENST00000379358.3_Missense_Mutation_p.A122V|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.A122V|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.A122V|ZSCAN2_ENST00000334141.3_Missense_Mutation_p.A122V|ZSCAN2_ENST00000485222.2_Missense_Mutation_p.A122V|ZSCAN2_ENST00000358472.3_Intron|ZSCAN2_ENST00000538076.1_Missense_Mutation_p.A122V|ZSCAN2_ENST00000541040.1_Missense_Mutation_p.A122V	p.A122V	NM_181877.3	NP_870992.2	WXS	Illumina HiSeq	Phase_I	Q7Z7L9	ZSCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	2	657	+			122			SCAN box.		A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	ENST00000448803.2	37	c.365C>T	CCDS10329.2	.	.	.	.	.	.	.	.	.	.	C	2.640	-0.284280	0.05605	0.0	1.16E-4	ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000334141;ENST00000379358;ENST00000327179;ENST00000541040;ENST00000538076;ENST00000485222;ENST00000379353	T;T;T;T;T;T;T;T	0.03386	3.95;3.95;3.95;3.95;3.95;3.95;3.95;3.95	5.63	-1.28	0.09318	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.282320	0.24927	N	0.034484	T	0.00784	0.0026	N	0.00301	-1.68	0.09310	N	1	B;B;B;B;B;B;B	0.11235	0.004;0.0;0.002;0.0;0.0;0.001;0.003	B;B;B;B;B;B;B	0.06405	0.001;0.001;0.001;0.001;0.001;0.002;0.001	T	0.44019	-0.9355	10	0.13853	T	0.58	-9.9035	3.0178	0.06065	0.2893:0.2494:0.0:0.4613	.	122;122;122;122;122;122;122	F5H3F3;F5GY18;F5GZ04;A8K5A9;Q7Z7L9;Q7Z7L9-4;Q7Z7L9-3	.;.;.;.;ZSCA2_HUMAN;.;.	V	122;122;122;122;122;122;122;122;103	ENSP00000410198:A122V;ENSP00000445451:A122V;ENSP00000333895:A122V;ENSP00000368663:A122V;ENSP00000325123:A122V;ENSP00000441342:A122V;ENSP00000439132:A122V;ENSP00000440004:A122V	ENSP00000325123:A122V	A	+	2	0	ZSCAN2	82948527	0.992000	0.36948	0.081000	0.20488	0.858000	0.48976	0.340000	0.19892	-0.444000	0.07170	-0.290000	0.09829	GCG		0.567	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	0	NM_017894		15:85147523
WDR17	116966	broad.mit.edu	37	4	177069371	177069371	+	Missense_Mutation	SNP	T	T	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:177069371T>A	ENST00000280190.4	+	14	2010	c.1854T>A	c.(1852-1854)aaT>aaA	p.N618K	WDR17_ENST00000508596.1_Missense_Mutation_p.N594K|WDR17_ENST00000507824.2_Missense_Mutation_p.N601K|WDR17_ENST00000393643.2_Missense_Mutation_p.N594K			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	618										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TAATGTGGAATACTGAGATTC	0.413																																						ENST00000393643.2		NA																	0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92						c.(1780-1782)aaT>aaA		WD repeat domain 17							166.0	161.0	163.0					4																	177069371		2203	4300	6503	SO:0001583	missense	116966							g.chr4:177069371T>A	AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.1854T>A	4.37:g.177069371T>A	ENSP00000280190:p.Asn618Lys	False	False		Somatic	0				WDR17_ENST00000508596.1_Missense_Mutation_p.N594K|WDR17_ENST00000280190.4_Missense_Mutation_p.N618K|WDR17_ENST00000507824.2_Missense_Mutation_p.N601K	p.N594K	NM_170710.4	NP_733828.2	WXS	Illumina HiSeq	Phase_I	Q8IZU2	WDR17_HUMAN		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)	13	2034	+		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)	618					E7EQX0|Q0QD35	Missense_Mutation	SNP	ENST00000280190.4	37	c.1782T>A	CCDS3825.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.936431	0.73442	.	.	ENSG00000150627	ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	T;T;T	0.61040	0.14;3.49;0.14	5.77	-5.17	0.02849	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.71426	0.3338	M	0.81682	2.555	0.49299	D	0.999775	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.75926	-0.3145	10	0.72032	D	0.01	-32.5565	14.3103	0.66413	0.0:0.474:0.0:0.526	.	594;618	E7EQX0;Q8IZU2	.;WDR17_HUMAN	K	594;594;618;601	ENSP00000422763:N594K;ENSP00000377258:N594K;ENSP00000280190:N618K	ENSP00000280190:N618K	N	+	3	2	WDR17	177306365	0.783000	0.28701	0.914000	0.36105	0.839000	0.47603	-0.154000	0.10130	-0.688000	0.05155	-0.264000	0.10439	AAT		0.413	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362334.2	0			4:177069371
KBTBD6	89890	broad.mit.edu	37	13	41705440	41705440	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:41705440G>T	ENST00000379485.1	-	1	1442	c.1208C>A	c.(1207-1209)aCa>aAa	p.T403K	KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	403								p.T403K(7)		NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CCAGAGGTCTGTCCTGGGCTG	0.507																																						ENST00000379485.1		NA																	7	Substitution - Missense(7)	p.T403K(7)	prostate(2)|skin(2)|NS(1)|kidney(1)|endometrium(1)	NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1207-1209)aCa>aAa		kelch repeat and BTB (POZ) domain containing 6							112.0	104.0	107.0					13																	41705440		2203	4300	6503	SO:0001583	missense	89890						protein binding	g.chr13:41705440G>T	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1208C>A	13.37:g.41705440G>T	ENSP00000368799:p.Thr403Lys	False	False		Somatic	0				KBTBD6_ENST00000499385.2_Missense_Mutation_p.T337K	p.T403K	NM_152903.4	NP_690867.3	WXS	Illumina HiSeq	Phase_I	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	1442	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	403					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Missense_Mutation	SNP	ENST00000379485.1	37	c.1208C>A	CCDS9376.1	.	.	.	.	.	.	.	.	.	.	g	0.018	-1.482688	0.01027	.	.	ENSG00000165572	ENST00000379485;ENST00000499385	T;T	0.64618	-0.11;-0.11	3.8	1.18	0.20946	Kelch-type beta propeller (1);	0.117488	0.53938	N	0.000042	T	0.17066	0.0410	N	0.00260	-1.75	0.27866	N	0.940205	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39313	-0.9620	10	0.02654	T	1	.	5.3509	0.16036	0.0:0.1047:0.1871:0.7082	.	337;403	F5GZN7;Q86V97	.;KBTB6_HUMAN	K	403;337	ENSP00000368799:T403K;ENSP00000444326:T337K	ENSP00000368799:T403K	T	-	2	0	KBTBD6	40603440	1.000000	0.71417	0.993000	0.49108	0.691000	0.40173	3.048000	0.49862	0.145000	0.18977	-0.521000	0.04368	ACA		0.507	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	0	NM_152903		13:41705440
ABCB4	5244	broad.mit.edu	37	7	87060829	87060829	+	Missense_Mutation	SNP	C	C	T	rs144398632		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:87060829C>T	ENST00000265723.4	-	15	1895	c.1784G>A	c.(1783-1785)cGa>cAa	p.R595Q	ABCB4_ENST00000453593.1_Missense_Mutation_p.R595Q|ABCB4_ENST00000358400.3_Missense_Mutation_p.R595Q|ABCB4_ENST00000545634.1_Missense_Mutation_p.R595Q|ABCB4_ENST00000359206.3_Missense_Mutation_p.R595Q	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	595	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	ATCTGCATTTCGGACCGTAGA	0.488																																						ENST00000265723.4		NA																	0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1783-1785)cGa>cAa		ATP-binding cassette, sub-family B (MDR/TAP), member 4		C	GLN/ARG,GLN/ARG,GLN/ARG	2,4404	4.2+/-10.8	0,2,2201	201.0	174.0	183.0		1784,1784,1784	5.5	1.0	7	dbSNP_134	183	0,8600		0,0,4300	no	missense,missense,missense	ABCB4	NM_000443.3,NM_018849.2,NM_018850.2	43,43,43	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging	595/1280,595/1287,595/1233	87060829	2,13004	2203	4300	6503	SO:0001583	missense	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87060829C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.1784G>A	7.37:g.87060829C>T	ENSP00000265723:p.Arg595Gln	True	False		Somatic	0				ABCB4_ENST00000545634.1_Missense_Mutation_p.R595Q|ABCB4_ENST00000453593.1_Missense_Mutation_p.R595Q|ABCB4_ENST00000359206.3_Missense_Mutation_p.R595Q|ABCB4_ENST00000358400.3_Missense_Mutation_p.R595Q	p.R595Q	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	WXS	Illumina HiSeq	Phase_I	P21439	MDR3_HUMAN			15	1895	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		595			ABC transporter 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	c.1784G>A	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565430	0.86439	4.54E-4	0.0	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	T;T;T;T;T	0.73681	-0.77;-0.77;-0.77;-0.77;-0.77	5.49	5.49	0.81192	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.85682	D	0.000000	T	0.70745	0.3259	N	0.19112	0.55	0.80722	D	1	P;P;P	0.41978	0.69;0.767;0.656	B;P;B	0.46796	0.083;0.527;0.327	T	0.73962	-0.3817	10	0.56958	D	0.05	-8.993	19.365	0.94458	0.0:1.0:0.0:0.0	.	595;595;595	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	Q	595	ENSP00000352135:R595Q;ENSP00000351172:R595Q;ENSP00000265723:R595Q;ENSP00000392983:R595Q;ENSP00000437465:R595Q	ENSP00000265723:R595Q	R	-	2	0	ABCB4	86898765	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	3.280000	0.51677	2.580000	0.87095	0.591000	0.81541	CGA		0.488	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	0	NM_000443		7:87060829
SORCS2	57537	broad.mit.edu	37	4	7666085	7666085	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:7666085C>T	ENST00000507866.2	+	7	1067	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	SORCS2_ENST00000329016.9_Missense_Mutation_p.R148W	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	320					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.R170W(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGTAGATTTTCGGTACGTCAC	0.597																																						ENST00000507866.2		NA																	2	Substitution - Missense(2)	p.R170W(2)	large_intestine(2)	autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(958-960)Cgg>Tgg		sortilin-related VPS10 domain containing receptor 2							43.0	44.0	44.0					4																	7666085		2075	4192	6267	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7666085C>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.958C>T	4.37:g.7666085C>T	ENSP00000422185:p.Arg320Trp	True	False		Somatic	0				SORCS2_ENST00000329016.9_Missense_Mutation_p.R148W	p.R320W	NM_020777.2	NP_065828.2	WXS	Illumina HiSeq	Phase_I	Q96PQ0	SORC2_HUMAN			7	1067	+			320					Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.958C>T	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179406	0.38511	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.31247	1.5;1.5	4.79	2.02	0.26589	VPS10 (1);	0.414901	0.22480	N	0.059519	T	0.39200	0.1069	L	0.57536	1.79	0.35199	D	0.774082	D;D	0.76494	0.998;0.999	P;P	0.57152	0.714;0.814	T	0.48031	-0.9070	10	0.59425	D	0.04	.	5.9996	0.19513	0.1529:0.6789:0.0:0.1682	.	148;320	B5MED8;Q96PQ0	.;SORC2_HUMAN	W	320;148	ENSP00000422185:R320W;ENSP00000329124:R148W	ENSP00000329124:R148W	R	+	1	2	SORCS2	7716985	0.998000	0.40836	0.001000	0.08648	0.008000	0.06430	2.969000	0.49232	0.094000	0.17404	-0.142000	0.14014	CGG		0.597	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	0	NM_020777		4:7666085
SEC31A	22872	broad.mit.edu	37	4	83742207	83742207	+	Missense_Mutation	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:83742207T>C	ENST00000395310.2	-	26	3648	c.3466A>G	c.(3466-3468)Aaa>Gaa	p.K1156E	SEC31A_ENST00000448323.1_Missense_Mutation_p.K1156E|SEC31A_ENST00000500777.2_Missense_Mutation_p.K1003E|SEC31A_ENST00000509142.1_Missense_Mutation_p.K1042E|SEC31A_ENST00000508502.1_Missense_Mutation_p.K1141E|SEC31A_ENST00000348405.4_Missense_Mutation_p.K1117E|SEC31A_ENST00000355196.2_Missense_Mutation_p.K1156E|SEC31A_ENST00000432794.1_Missense_Mutation_p.K1169E|SEC31A_ENST00000264405.5_Missense_Mutation_p.K905E|SEC31A_ENST00000311785.7_Missense_Mutation_p.K1042E|SEC31A_ENST00000326950.5_Missense_Mutation_p.K1117E|SEC31A_ENST00000505472.1_Missense_Mutation_p.K1187E|SEC31A_ENST00000513858.1_Missense_Mutation_p.K1003E|SEC31A_ENST00000443462.2_Missense_Mutation_p.K1136E|SEC31A_ENST00000505984.1_Missense_Mutation_p.K1102E	NM_001077207.2|NM_001077208.2|NM_014933.3	NP_001070675.1|NP_001070676.1|NP_055748.2	O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1156					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER to Golgi vesicle-mediated transport (GO:0006888)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)|response to calcium ion (GO:0051592)	COPII vesicle coat (GO:0030127)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|vesicle coat (GO:0030120)	calcium-dependent protein binding (GO:0048306)		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCCCTAAGTTTATCATACAGA	0.338																																						ENST00000432794.1		NA																SEC31A/ALK(3)|SEC31A/JAK2(4)	0				breast(1)	1						c.(3505-3507)Aaa>Gaa		SEC31 homolog A (S. cerevisiae)							200.0	210.0	207.0					4																	83742207		2203	4300	6503	SO:0001583	missense	22872				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding	g.chr4:83742207T>C	AB018358	CCDS3596.1, CCDS3597.1, CCDS43244.1, CCDS47088.1, CCDS54773.1, CCDS75155.1, CCDS75156.1	4q21.3	2013-01-10	2006-10-05	2006-09-07	ENSG00000138674	ENSG00000138674		"""WD repeat domain containing"""	17052	protein-coding gene	gene with protein product		610257	"""SEC31-like 1 (S. cerevisiae)"", ""Sec31 homolog A (S. cerevisiae)"""	SEC31L1		10048485, 10788476	Standard	NM_001077206		Approved	KIAA0905, ABP125, ABP130	uc003hnh.3	O94979	OTTHUMG00000130297	ENST00000395310.2:c.3466A>G	4.37:g.83742207T>C	ENSP00000378721:p.Lys1156Glu	True	False		Somatic	0				SEC31A_ENST00000509142.1_Missense_Mutation_p.K1042E|SEC31A_ENST00000508502.1_Missense_Mutation_p.K1141E|SEC31A_ENST00000348405.4_Missense_Mutation_p.K1117E|SEC31A_ENST00000311785.7_Missense_Mutation_p.K1042E|SEC31A_ENST00000505472.1_Missense_Mutation_p.K1187E|SEC31A_ENST00000505984.1_Missense_Mutation_p.K1102E|SEC31A_ENST00000264405.5_Missense_Mutation_p.K905E|SEC31A_ENST00000395310.2_Missense_Mutation_p.K1156E|SEC31A_ENST00000448323.1_Missense_Mutation_p.K1156E|SEC31A_ENST00000355196.2_Missense_Mutation_p.K1156E|SEC31A_ENST00000513858.1_Missense_Mutation_p.K1003E|SEC31A_ENST00000500777.2_Missense_Mutation_p.K1003E|SEC31A_ENST00000326950.5_Missense_Mutation_p.K1117E|SEC31A_ENST00000443462.2_Missense_Mutation_p.K1136E	p.K1169E			WXS	Illumina HiSeq	Phase_I	O94979	SC31A_HUMAN			27	3668	-		Hepatocellular(203;0.114)	1156					B4DIW6|B7ZKZ7|B7ZL00|H7C2W3|Q17RR5|Q5H9P6|Q5XG74|Q659G7|Q6ZU90|Q7LCX9|Q86TJ0|Q8IZH4|Q9P048|Q9P0A6|Q9UM05|Q9UM06	Missense_Mutation	SNP	ENST00000395310.2	37	c.3505A>G	CCDS3596.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.5|27.5	4.839843|4.839843	0.91117|0.91117	.|.	.|.	ENSG00000138674|ENSG00000138674	ENST00000503937|ENST00000348405;ENST00000513858;ENST00000395310;ENST00000443462;ENST00000509142;ENST00000432794;ENST00000448323;ENST00000326950;ENST00000311785;ENST00000505472;ENST00000500777;ENST00000508502;ENST00000355196;ENST00000264405;ENST00000505984	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.40756	.|1.17;1.02;2.26;2.22;1.07;2.15;2.26;1.17;1.07;1.02;1.02;2.22;2.26;3.05;2.14	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68403|0.68403	0.2997|0.2997	M|M	0.85462|0.85462	2.755|2.755	0.36891|0.36891	D|D	0.889912|0.889912	.|D;D;D;D;D;D;D;D;D	.|0.76494	.|0.998;0.997;0.998;0.999;0.998;0.999;0.998;0.984;0.998	.|D;D;D;D;D;D;D;P;D	.|0.85130	.|0.993;0.98;0.994;0.997;0.994;0.996;0.993;0.839;0.997	T|T	0.76567|0.76567	-0.2912|-0.2912	5|10	.|0.48119	.|T	.|0.1	-14.366|-14.366	15.8221|15.8221	0.78662|0.78662	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1136;1102;1003;1117;1042;1141;1156;905;1169	.|B4DIW6;B7ZL00;O94979-6;O94979-4;O94979-3;O94979-2;O94979;O94979-7;O94979-8	.|.;.;.;.;.;.;SC31A_HUMAN;.;.	M|E	318|1117;1003;1156;1136;1042;1169;1156;1117;1042;1187;1003;1141;1156;905;1102	.|ENSP00000337602:K1117E;ENSP00000426886:K1003E;ENSP00000378721:K1156E;ENSP00000408027:K1136E;ENSP00000426569:K1042E;ENSP00000407944:K1169E;ENSP00000400926:K1156E;ENSP00000325087:K1117E;ENSP00000309070:K1042E;ENSP00000421633:K1187E;ENSP00000421464:K1003E;ENSP00000424635:K1141E;ENSP00000347329:K1156E;ENSP00000264405:K905E;ENSP00000424451:K1102E	.|ENSP00000264405:K905E	I|K	-|-	3|1	3|0	SEC31A|SEC31A	83961231|83961231	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	7.698000|7.698000	0.84413|0.84413	2.139000|2.139000	0.66308|0.66308	0.533000|0.533000	0.62120|0.62120	ATA|AAA		0.338	SEC31A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252640.1	0	NM_016211		4:83742207
ETS1	2113	broad.mit.edu	37	11	128426243	128426243	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:128426243A>G	ENST00000392668.4	-	3	241	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	151	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TCATCCCAAAAGGGGTAGCAA	0.448																																						ENST00000392668.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(157-159)Ttt>Ctt		v-ets avian erythroblastosis virus E26 oncogene homolog 1							155.0	134.0	140.0					11																	128426243		1566	3579	5145	SO:0001583	missense	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128426243A>G		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000392668.4:c.157T>C	11.37:g.128426243A>G	ENSP00000376436:p.Phe53Leu	True	False		Somatic	0				ETS1_ENST00000525404.1_5'UTR	p.F53L	NM_001143820.1	NP_001137292.1	WXS	Illumina HiSeq	Phase_I	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	3	241	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	NA			PNT.		A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000392668.4	37	c.157T>C	CCDS44767.1	.	.	.	.	.	.	.	.	.	.	A	4.254	0.046125	0.08243	.	.	ENSG00000134954	ENST00000392668	T	0.08546	3.08	5.91	-0.172	0.13327	.	31.137600	0.02836	U	0.127298	T	0.04003	0.0112	.	.	.	0.18873	N	0.999987	B	0.02656	0.0	B	0.01281	0.0	T	0.36696	-0.9737	9	0.02654	T	1	.	9.9312	0.41523	0.4387:0.0:0.5613:0.0	.	53	Q6N087	.	L	53	ENSP00000376436:F53L	ENSP00000376436:F53L	F	-	1	0	ETS1	127931453	0.028000	0.19301	0.100000	0.21137	0.969000	0.65631	0.081000	0.14823	-0.052000	0.13311	0.533000	0.62120	TTT		0.448	ETS1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386267.2	0	NM_005238		11:128426243
TRPM8	79054	broad.mit.edu	37	2	234875381	234875381	+	Silent	SNP	C	C	T	rs201839664		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:234875381C>T	ENST00000324695.4	+	15	2047	c.2007C>T	c.(2005-2007)atC>atT	p.I669I	TRPM8_ENST00000433712.2_Silent_p.I357I	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	669					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AGCATTTCATCGCCCAGCCTG	0.527																																						ENST00000324695.4		NA																	0				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66						c.(2005-2007)atC>atT		transient receptor potential cation channel, subfamily M, member 8	Menthol(DB00825)						75.0	66.0	69.0					2																	234875381		2203	4300	6503	SO:0001819	synonymous_variant	79054					integral to membrane		g.chr2:234875381C>T	AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2007C>T	2.37:g.234875381C>T		False	False		Somatic	0				TRPM8_ENST00000433712.2_Silent_p.I357I	p.I669I	NM_024080.4	NP_076985.4	WXS	Illumina HiSeq	Phase_I	Q7Z2W7	TRPM8_HUMAN		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	15	2047	+		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)	669					A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Silent	SNP	ENST00000324695.4	37	c.2007C>T	CCDS33407.1																																																																																				0.527	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131005.4	0	NM_024080		2:234875381
IKBKB	3551	broad.mit.edu	37	8	42129664	42129664	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr8:42129664G>A	ENST00000520810.1	+	2	232	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	RP11-231D20.2_ENST00000520890.1_RNA|IKBKB_ENST00000519735.1_Missense_Mutation_p.E16K|RP11-231D20.2_ENST00000523459.1_RNA|IKBKB_ENST00000416505.2_5'UTR|RP11-231D20.2_ENST00000518994.1_RNA|IKBKB_ENST00000520835.1_Intron|RP11-231D20.2_ENST00000518213.1_RNA|IKBKB_ENST00000379708.3_5'UTR|IKBKB_ENST00000518983.1_Missense_Mutation_p.E16K|IKBKB_ENST00000522147.1_Missense_Mutation_p.E16K	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	16	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell homeostasis (GO:0001782)|cellular response to tumor necrosis factor (GO:0071356)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of cation channel activity (GO:2001259)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sodium ion transport (GO:0010765)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)|serine phosphorylation of STAT protein (GO:0042501)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|scaffold protein binding (GO:0097110)			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Arsenic trioxide(DB01169)|Auranofin(DB00995)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	TGGGGCCTGGGAAATGAAAGA	0.542																																						ENST00000520810.1		NA																	0				breast(4)|lung(1)|ovary(2)|skin(1)	8						c.(46-48)Gaa>Aaa		inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	Arsenic trioxide(DB01169)|Auranofin(DB00995)						117.0	117.0	117.0					8																	42129664		2203	4300	6503	SO:0001583	missense	3551				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity	g.chr8:42129664G>A	AF029684	CCDS6128.1, CCDS55228.1, CCDS56535.1	8p11.2	2008-08-18			ENSG00000104365	ENSG00000104365			5960	protein-coding gene	gene with protein product		603258				9878263, 9763654	Standard	NM_001556		Approved	IKK2, NFKBIKB, IKK-beta, IKKB	uc003xow.2	O14920	OTTHUMG00000164092	ENST00000520810.1:c.46G>A	8.37:g.42129664G>A	ENSP00000430684:p.Glu16Lys	True	False		Somatic	0				IKBKB_ENST00000522147.1_Missense_Mutation_p.E16K|IKBKB_ENST00000520835.1_Intron|IKBKB_ENST00000416505.2_5'UTR|IKBKB_ENST00000379708.3_5'UTR|IKBKB_ENST00000518983.1_Missense_Mutation_p.E16K|IKBKB_ENST00000519735.1_Missense_Mutation_p.E16K	p.E16K	NM_001556.2	NP_001547.1	WXS	Illumina HiSeq	Phase_I	O14920	IKKB_HUMAN	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		2	232	+	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	16			Protein kinase.		B4DZ30|B4E0U4|O75327	Missense_Mutation	SNP	ENST00000520810.1	37	c.46G>A	CCDS6128.1	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127519	0.56721	.	.	ENSG00000104365	ENST00000520810;ENST00000519735;ENST00000518983;ENST00000522147	T;T	0.65916	-0.18;-0.18	4.84	4.84	0.62591	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.46833	0.1413	L	0.31476	0.935	0.80722	D	1	B;B	0.13594	0.006;0.008	B;B	0.20384	0.02;0.029	T	0.36720	-0.9736	10	0.06891	T	0.86	.	13.7992	0.63190	0.0:0.0:1.0:0.0	.	16;16	O14920;Q32ND9	IKKB_HUMAN;.	K	16	ENSP00000430684:E16K;ENSP00000430483:E16K	ENSP00000339151:E16K	E	+	1	0	IKBKB	42248821	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.652000	0.67959	2.392000	0.81423	0.655000	0.94253	GAA		0.542	IKBKB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377214.1	0			8:42129664
SATB2	23314	broad.mit.edu	37	2	200213649	200213649	+	Silent	SNP	C	C	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:200213649C>A	ENST00000417098.1	-	7	1764	c.948G>T	c.(946-948)ctG>ctT	p.L316L	SATB2_ENST00000443023.1_Silent_p.L257L|SATB2_ENST00000260926.5_Silent_p.L316L|SATB2_ENST00000428695.1_Silent_p.L198L|SATB2_ENST00000457245.1_Silent_p.L316L	NM_001172509.1	NP_001165980.1	Q9UPW6	SATB2_HUMAN	SATB homeobox 2	316					cartilage development (GO:0051216)|cellular response to organic substance (GO:0071310)|chromatin remodeling (GO:0006338)|embryonic pattern specification (GO:0009880)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|osteoblast development (GO:0002076)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTTGGTTTATCAGATGGGCCA	0.527																																					Colon(30;262 767 11040 24421 36230)	ENST00000443023.1		NA																	0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						c.(769-771)ctG>ctT		SATB homeobox 2							161.0	163.0	162.0					2																	200213649		2203	4300	6503	SO:0001819	synonymous_variant	23314					cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity	g.chr2:200213649C>A	AB028957	CCDS2327.1	2q33.1	2011-06-20	2007-02-15		ENSG00000119042	ENSG00000119042		"""Homeoboxes / CUT class"""	21637	protein-coding gene	gene with protein product		608148	"""SATB family member 2"""				Standard	NM_015265		Approved	KIAA1034, FLJ21474	uc002uva.2	Q9UPW6	OTTHUMG00000132767	ENST00000417098.1:c.948G>T	2.37:g.200213649C>A		False	False		Somatic	0				SATB2_ENST00000457245.1_Silent_p.L316L|SATB2_ENST00000260926.5_Silent_p.L316L|SATB2_ENST00000428695.1_Silent_p.L198L|SATB2_ENST00000417098.1_Silent_p.L316L	p.L257L			WXS	Illumina HiSeq	Phase_I	Q9UPW6	SATB2_HUMAN			6	2236	-			316					A8K5Z8|Q3ZB87|Q4V763	Silent	SNP	ENST00000417098.1	37	c.771G>T	CCDS2327.1																																																																																				0.527	SATB2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256140.1	0	NM_015265		2:200213649
TYRP1	7306	broad.mit.edu	37	9	12698537	12698537	+	Missense_Mutation	SNP	G	G	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:12698537G>C	ENST00000388918.5	+	4	924	c.795G>C	c.(793-795)ttG>ttC	p.L265F	RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Intron|TYRP1_ENST00000381137.2_Intron	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	265					acetoacetic acid metabolic process (GO:0043438)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome organization (GO:0032438)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)	copper ion binding (GO:0005507)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen (GO:0016716)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		CGGATGACTTGATGGGATCCA	0.433									Oculocutaneous Albinism																													ENST00000388918.5		NA																	0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22						c.(793-795)ttG>ttC		tyrosinase-related protein 1							122.0	116.0	118.0					9																	12698537		2203	4300	6503	SO:0001583	missense	7306	Oculocutaneous Albinism	Familial Cancer Database		melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	g.chr9:12698537G>C	L33830	CCDS34990.1	9p23	2013-01-08			ENSG00000107165	ENSG00000107165			12450	protein-coding gene	gene with protein product		115501		TYRP, CAS2		9434945	Standard	NM_000550		Approved	GP75, CATB, TRP, b-PROTEIN, OCA3	uc003zkv.4	P17643	OTTHUMG00000021034	ENST00000388918.5:c.795G>C	9.37:g.12698537G>C	ENSP00000373570:p.Leu265Phe	False	False		Somatic	0				TYRP1_ENST00000381136.2_Intron|TYRP1_ENST00000381137.2_Intron	p.L265F	NM_000550.2	NP_000541.1	WXS	Illumina HiSeq	Phase_I	P17643	TYRP1_HUMAN		GBM - Glioblastoma multiforme(50;9.85e-06)	4	924	+		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)	265					P78468|P78469|Q13721|Q15679	Missense_Mutation	SNP	ENST00000388918.5	37	c.795G>C	CCDS34990.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266534	0.40095	.	.	ENSG00000107165	ENST00000388918	D	0.98633	-5.04	6.07	4.23	0.50019	Tyrosinase (1);Uncharacterised domain, di-copper centre (2);	0.121883	0.56097	D	0.000034	D	0.95771	0.8624	L	0.28608	0.87	0.80722	D	1	B	0.25007	0.116	B	0.35278	0.199	D	0.91030	0.4863	10	0.30854	T	0.27	-6.3417	4.1206	0.10104	0.1303:0.2338:0.5154:0.1205	.	265	P17643	TYRP1_HUMAN	F	265	ENSP00000373570:L265F	ENSP00000373570:L265F	L	+	3	2	TYRP1	12688537	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.652000	0.37313	0.889000	0.36185	0.655000	0.94253	TTG		0.433	TYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055502.3	0	NM_000550		9:12698537
PZP	5858	broad.mit.edu	37	12	9303328	9303328	+	Silent	SNP	C	C	T	rs371639831		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:9303328C>T	ENST00000261336.2	-	34	4324	c.4296G>A	c.(4294-4296)acG>acA	p.T1432T	PZP_ENST00000381997.2_Silent_p.T1218T	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1432					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AAAAACTTAGCGTCTGATTTG	0.393																																					Melanoma(125;1402 1695 4685 34487 38571)	ENST00000261336.2		NA																	0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						c.(4294-4296)acG>acA		pregnancy-zone protein							107.0	103.0	105.0					12																	9303328		2203	4300	6503	SO:0001819	synonymous_variant	5858							g.chr12:9303328C>T	X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.4296G>A	12.37:g.9303328C>T		False	False		Somatic	0				PZP_ENST00000381997.2_Silent_p.T1218T	p.T1432T	NM_002864.2	NP_002855.2	WXS	Illumina HiSeq	Phase_I					34	4324	-			NA					A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	c.4296G>A	CCDS8600.1																																																																																				0.393	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1	0	NM_002864		12:9303328
PPP2R1A	5518	broad.mit.edu	37	19	52724361	52724361	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:52724361G>A	ENST00000322088.6	+	12	1551	c.1493G>A	c.(1492-1494)cGc>cAc	p.R498H	CTD-2525I3.3_ENST00000593857.1_RNA|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R319H|PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R443H	NM_014225.5	NP_055040.2	P30153	2AAA_HUMAN	protein phosphatase 2, regulatory subunit A, alpha	498	PP2A subunit C binding.				apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|chromosome segregation (GO:0007059)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine dephosphorylation (GO:0070262)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein complex assembly (GO:0006461)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	antigen binding (GO:0003823)|protein heterodimerization activity (GO:0046982)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135				GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)		TACCTGCACCGCATGACTACG	0.572			Mis		clear cell ovarian carcinoma																																	ENST00000322088.6		NA		Dom?	yes		19	19q13.41	5518	Mis	"""protein phosphatase 2, regulatory subunit A, alpha"""			E			clear cell ovarian carcinoma		0				NS(1)|breast(4)|cervix(2)|endometrium(62)|kidney(1)|large_intestine(7)|lung(21)|ovary(32)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	135						c.(1492-1494)cGc>cAc		protein phosphatase 2, regulatory subunit A, alpha							168.0	139.0	149.0					19																	52724361		2203	4300	6503	SO:0001583	missense	5518				ceramide metabolic process|chromosome segregation|G2/M transition of mitotic cell cycle|inactivation of MAPK activity|induction of apoptosis|negative regulation of cell growth|negative regulation of tyrosine phosphorylation of Stat3 protein|protein complex assembly|protein dephosphorylation|regulation of cell adhesion|regulation of cell differentiation|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|membrane|microtubule cytoskeleton|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction	antigen binding|protein heterodimerization activity|protein phosphatase type 2A regulator activity	g.chr19:52724361G>A		CCDS12849.1	19q13	2010-06-18	2010-04-14		ENSG00000105568	ENSG00000105568	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9302	protein-coding gene	gene with protein product	"""protein phosphatase 2A, regulatory subunit A, alpha isoform"", ""protein phosphatase 2, 65kDa regulatory subunit A"""	605983	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, alpha isoform"""				Standard	NR_033500		Approved	PR65A, PP2A-Aalpha	uc002pyp.3	P30153	OTTHUMG00000137367	ENST00000322088.6:c.1493G>A	19.37:g.52724361G>A	ENSP00000324804:p.Arg498His	False	False		Somatic	0				PPP2R1A_ENST00000444322.2_Missense_Mutation_p.R443H|PPP2R1A_ENST00000462990.1_Missense_Mutation_p.R319H	p.R498H	NM_014225.5	NP_055040.2	WXS	Illumina HiSeq	Phase_I	P30153	2AAA_HUMAN		GBM - Glioblastoma multiforme(134;0.00456)|OV - Ovarian serous cystadenocarcinoma(262;0.015)	12	1551	+			498			PP2A subunit C binding.		Q13773|Q6ICQ3|Q96DH3	Missense_Mutation	SNP	ENST00000322088.6	37	c.1493G>A	CCDS12849.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.118398	0.77323	.	.	ENSG00000105568	ENST00000423369;ENST00000391791;ENST00000322088;ENST00000436460;ENST00000444322	T;T	0.55052	0.54;0.54	4.67	3.63	0.41609	Armadillo-like helical (1);Armadillo-type fold (1);	0.100234	0.40144	N	0.001161	T	0.79621	0.4477	H	0.96662	3.86	0.53005	D	0.999962	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.84438	0.0581	10	0.87932	D	0	-9.5593	10.7389	0.46141	0.0931:0.0:0.9069:0.0	.	443;498	F5H3X9;P30153	.;2AAA_HUMAN	H	488;418;498;65;443	ENSP00000324804:R498H;ENSP00000415067:R443H	ENSP00000324804:R498H	R	+	2	0	PPP2R1A	57416173	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	8.837000	0.92110	1.325000	0.45301	0.655000	0.94253	CGC		0.572	PPP2R1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000267967.2	0	NM_014225		19:52724361
CYP4X1	260293	broad.mit.edu	37	1	47514244	47514244	+	Silent	SNP	C	C	T	rs190394183	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:47514244C>T	ENST00000371901.3	+	10	1465	c.1215C>T	c.(1213-1215)acC>acT	p.T405T	CYP4X1_ENST00000538609.1_Silent_p.T404T	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	405						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						TAGGGATCACCGTGGTTCTTA	0.423													C|||	2	0.000399361	0.0	0.0	5008	,	,		19642	0.002		0.0	False		,,,				2504	0.0					ENST00000371901.3		NA																	0				endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						c.(1213-1215)acC>acT		cytochrome P450, family 4, subfamily X, polypeptide 1							216.0	232.0	227.0					1																	47514244		2203	4300	6503	SO:0001819	synonymous_variant	260293					endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding	g.chr1:47514244C>T	AK091806	CCDS544.1	1p33	2008-02-05			ENSG00000186377	ENSG00000186377		"""Cytochrome P450s"""	20244	protein-coding gene	gene with protein product		614999				12176035	Standard	NM_178033		Approved	MGC40051	uc001cqt.3	Q8N118	OTTHUMG00000008017	ENST00000371901.3:c.1215C>T	1.37:g.47514244C>T		False	False		Somatic	0				CYP4X1_ENST00000538609.1_Silent_p.T404T	p.T405T	NM_178033.1	NP_828847.1	WXS	Illumina HiSeq	Phase_I	Q8N118	CP4X1_HUMAN			10	1465	+			405					G3V1U1|Q5VVE5|Q6ZN67|Q8NAZ3	Silent	SNP	ENST00000371901.3	37	c.1215C>T	CCDS544.1																																																																																				0.423	CYP4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022017.1	0	NM_178033		1:47514244
TLR5	7100	broad.mit.edu	37	1	223285330	223285330	+	Silent	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:223285330C>G	ENST00000540964.1	-	4	1505	c.1044G>C	c.(1042-1044)ctG>ctC	p.L348L	TLR5_ENST00000342210.6_Silent_p.L348L			O60602	TLR5_HUMAN	toll-like receptor 5	348					cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of cytokine secretion (GO:0050707)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor signaling pathway (GO:0002224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AAAGTTCCCCCAGAAGGTTAT	0.363																																						ENST00000540964.1		NA																	0				breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(1042-1044)ctG>ctC		toll-like receptor 5							93.0	93.0	93.0					1																	223285330		2203	4300	6503	SO:0001819	synonymous_variant	7100				cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity	g.chr1:223285330C>G		CCDS31033.1	1q32.3-q42	2014-01-29			ENSG00000187554	ENSG00000187554			11851	protein-coding gene	gene with protein product	"""Toll/interleukin-1 receptor-like protein 3"""	603031	"""systemic lupus erythematosus susceptibility 1"""	SLEB1		9435236, 16027372	Standard	NM_003268		Approved	TIL3, FLJ10052, MGC126430, MGC126431	uc001hnw.2	O60602	OTTHUMG00000037937	ENST00000540964.1:c.1044G>C	1.37:g.223285330C>G		True	False		Somatic	0				TLR5_ENST00000342210.6_Silent_p.L348L	p.L348L			WXS	Illumina HiSeq	Phase_I	O60602	TLR5_HUMAN		GBM - Glioblastoma multiforme(131;0.0851)	4	1505	-			348					B1AZ05|B3Y633|B9VJ63|D1CS80|D3DTB8|O15456|Q32MI2|Q32MI3	Silent	SNP	ENST00000540964.1	37	c.1044G>C	CCDS31033.1																																																																																				0.363	TLR5-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_003268		1:223285330
DEF8	54849	broad.mit.edu	37	16	90027351	90027351	+	Missense_Mutation	SNP	G	G	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr16:90027351G>T	ENST00000268676.7	+	7	799	c.710G>T	c.(709-711)cGc>cTc	p.R237L	DEF8_ENST00000563594.1_Missense_Mutation_p.R176L|DEF8_ENST00000567874.1_Missense_Mutation_p.R116L|DEF8_ENST00000570182.1_Missense_Mutation_p.R166L|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000563795.1_Missense_Mutation_p.R176L|DEF8_ENST00000569453.1_Missense_Mutation_p.R176L	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	237					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		TGTTATTACCGCTGTCACAGT	0.582																																						ENST00000563594.1		NA																	0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(526-528)cGc>cTc		differentially expressed in FDCP 8 homolog (mouse)							159.0	138.0	145.0					16																	90027351		2198	4300	6498	SO:0001583	missense	54849				intracellular signal transduction		zinc ion binding	g.chr16:90027351G>T	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.710G>T	16.37:g.90027351G>T	ENSP00000268676:p.Arg237Leu	False	False		Somatic	0				DEF8_ENST00000563795.1_Missense_Mutation_p.R176L|DEF8_ENST00000570182.1_Missense_Mutation_p.R166L|DEF8_ENST00000567874.1_Missense_Mutation_p.R116L|DEF8_ENST00000569453.1_Missense_Mutation_p.R176L|DEF8_ENST00000268676.7_Missense_Mutation_p.R237L|DEF8_ENST00000563848.1_3'UTR	p.R176L	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	WXS	Illumina HiSeq	Phase_I	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	7	1524	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	237					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Missense_Mutation	SNP	ENST00000268676.7	37	c.527G>T	CCDS10989.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126553	0.77549	.	.	ENSG00000140995	ENST00000268676	D	0.83419	-1.72	3.82	3.82	0.43975	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.135757	0.49916	D	0.000129	T	0.77538	0.4145	N	0.10733	0.035	0.80722	D	1	D;D;D	0.56746	0.977;0.977;0.966	P;P;P	0.56343	0.738;0.796;0.796	T	0.77247	-0.2658	10	0.25106	T	0.35	-4.7809	15.8391	0.78831	0.0:0.0:1.0:0.0	.	176;166;237	Q6ZN54-5;Q6ZN54-3;Q6ZN54	.;.;DEFI8_HUMAN	L	237	ENSP00000268676:R237L	ENSP00000268676:R237L	R	+	2	0	DEF8	88554852	1.000000	0.71417	1.000000	0.80357	0.570000	0.35934	6.982000	0.76173	2.119000	0.64992	0.462000	0.41574	CGC		0.582	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	0	NM_207514		16:90027351
ZNF816	125893	broad.mit.edu	37	19	53454217	53454217	+	Missense_Mutation	SNP	A	A	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:53454217A>C	ENST00000357666.4	-	5	1111	c.811T>G	c.(811-813)Tac>Gac	p.Y271D	ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.Y271D|ZNF321P_ENST00000391777.3_Intron	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	271					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TATACAATGTATTGCTTCTGA	0.378																																						ENST00000357666.4		NA																	0				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						c.(811-813)Tac>Gac		zinc finger protein 816							132.0	125.0	127.0					19																	53454217		2203	4300	6503	SO:0001583	missense	125893				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53454217A>C	BC063805	CCDS33096.1	19q13.41	2013-01-08	2010-07-23	2010-07-23		ENSG00000180257		"""Zinc fingers, C2H2-type"", ""-"""	26995	protein-coding gene	gene with protein product			"""zinc finger protein 816A"""	ZNF816A			Standard	NM_001031665		Approved		uc002qam.2	Q0VGE8		ENST00000357666.4:c.811T>G	19.37:g.53454217A>C	ENSP00000350295:p.Tyr271Asp	False	False		Somatic	0				ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.Y271D	p.Y271D	NM_001031665.2	NP_001026835.1	WXS	Illumina HiSeq	Phase_I	Q0VGE8	ZN816_HUMAN			5	1111	-			271					A8K7H5|Q3KR39|Q659B3	Missense_Mutation	SNP	ENST00000357666.4	37	c.811T>G	CCDS33096.1	.	.	.	.	.	.	.	.	.	.	-	2.570	-0.299834	0.05532	.	.	ENSG00000180257	ENST00000357666;ENST00000444460	T;T	0.14516	2.5;2.5	1.75	0.592	0.17471	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13500	0.0327	N	0.13098	0.295	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.20472	-1.0274	9	0.11794	T	0.64	.	3.0944	0.06304	0.2436:0.0:0.2351:0.5213	.	271	Q0VGE8	ZN816_HUMAN	D	271	ENSP00000350295:Y271D;ENSP00000403266:Y271D	ENSP00000350295:Y271D	Y	-	1	0	ZNF816	58146029	0.000000	0.05858	0.001000	0.08648	0.112000	0.19704	-6.414000	0.00067	-0.056000	0.13221	0.163000	0.16589	TAC		0.378	ZNF816-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396132.1	0	NM_001031665		19:53454217
C2orf88	84281	broad.mit.edu	37	2	191064754	191064754	+	Silent	SNP	T	T	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:191064754T>G	ENST00000340623.4	+	2	579	c.168T>G	c.(166-168)acT>acG	p.T56T	C2orf88_ENST00000443551.2_Silent_p.T56T|C2orf88_ENST00000409870.1_Silent_p.T56T|C2orf88_ENST00000396974.2_Silent_p.T56T	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	SMAKA_HUMAN	chromosome 2 open reading frame 88	56	PKA-RI-binding.		T -> I (in dbSNP:rs6753459). {ECO:0000269|PubMed:15489334}.			plasma membrane (GO:0005886)				kidney(1)|large_intestine(1)|lung(1)	3						GGACCAATACTGTGATCTTGG	0.453																																						ENST00000340623.4		NA																	0				kidney(1)|large_intestine(1)|lung(1)	3						c.(166-168)acT>acG		chromosome 2 open reading frame 88							189.0	192.0	191.0					2																	191064754		1980	4154	6134	SO:0001819	synonymous_variant	84281							g.chr2:191064754T>G	BC005083	CCDS42792.1	2q32.2	2014-02-12	2009-04-08		ENSG00000187699	ENSG00000187699			28191	protein-coding gene	gene with protein product	"""small membrane AKAP"""	615117				23996002	Standard	NM_032321		Approved	MGC13057, smAKAP	uc002urt.3	Q9BSF0	OTTHUMG00000154361	ENST00000340623.4:c.168T>G	2.37:g.191064754T>G		False	False		Somatic	0				C2orf88_ENST00000443551.2_Silent_p.T56T|C2orf88_ENST00000409870.1_Silent_p.T56T|C2orf88_ENST00000396974.2_Silent_p.T56T	p.T56T	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	WXS	Illumina HiSeq	Phase_I	Q9BSF0	CB088_HUMAN			2	579	+			56		T -> I (in dbSNP:rs6753459).			D3DPI3|P0C876|Q53TC7	Silent	SNP	ENST00000340623.4	37	c.168T>G	CCDS42792.1																																																																																				0.453	C2orf88-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334954.1	0	NM_032321		2:191064754
MCF2L	23263	broad.mit.edu	37	13	113742040	113742040	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:113742040C>T	ENST00000375608.3	+	24	2763	c.2705C>T	c.(2704-2706)aCg>aTg	p.T902M	MCF2L_ENST00000421756.1_Missense_Mutation_p.T876M|MCF2L_ENST00000423482.2_Missense_Mutation_p.T870M|MCF2L_ENST00000375597.4_Missense_Mutation_p.T870M|MCF2L_ENST00000397030.1_Missense_Mutation_p.T905M|MCF2L_ENST00000375604.2_Missense_Mutation_p.T929M|MCF2L_ENST00000442652.2_Missense_Mutation_p.T902M|MCF2L_ENST00000535094.2_Missense_Mutation_p.T872M|MCF2L_ENST00000375601.3_Missense_Mutation_p.T876M|MCF2L_ENST00000434480.2_Missense_Mutation_p.T878M			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	902	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GTTGGCATTACGGAGAACGTG	0.577																																						ENST00000397030.1		NA																	0				kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8						c.(2713-2715)aCg>aTg		MCF.2 cell line derived transforming sequence-like							158.0	102.0	121.0					13																	113742040		2203	4299	6502	SO:0001583	missense	23263				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr13:113742040C>T	AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2705C>T	13.37:g.113742040C>T	ENSP00000364758:p.Thr902Met	False	False		Somatic	0				MCF2L_ENST00000375597.4_Missense_Mutation_p.T870M|MCF2L_ENST00000442652.2_Missense_Mutation_p.T902M|MCF2L_ENST00000434480.2_Missense_Mutation_p.T878M|MCF2L_ENST00000423482.2_Missense_Mutation_p.T870M|MCF2L_ENST00000375601.3_Missense_Mutation_p.T876M|MCF2L_ENST00000375604.2_Missense_Mutation_p.T929M|MCF2L_ENST00000421756.1_Missense_Mutation_p.T876M|MCF2L_ENST00000375608.3_Missense_Mutation_p.T902M|MCF2L_ENST00000535094.2_Missense_Mutation_p.T872M	p.T905M			WXS	Illumina HiSeq	Phase_I	O15068	MCF2L_HUMAN			23	2751	+	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)	902			PH.		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37	c.2714C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.46|14.46	2.540927|2.540927	0.45280|0.45280	.|.	.|.	ENSG00000126217|ENSG00000126217	ENST00000413354;ENST00000261963|ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	.|T;T;T;T;T;T;T;T;T;T	.|0.76968	.|2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12;-1.06	5.08|5.08	4.24|4.24	0.50183|0.50183	.|Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91294|0.91294	0.7255|0.7255	H|H	0.95982|0.95982	3.75|3.75	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|1.0;1.0;1.0;1.0;1.0	D|D	0.93344|0.93344	0.6712|0.6712	5|10	.|0.87932	.|D	.|0	.|.	13.4666|13.4666	0.61258|0.61258	0.0:0.9243:0.0:0.0757|0.0:0.9243:0.0:0.0757	.|.	.|870;872;929;870;902	.|E9PDN8;O15068-9;G5E9A1;O15068-4;O15068	.|.;.;.;.;MCF2L_HUMAN	W|M	102;43|902;902;929;905;872;876;876;878;870;870;713	.|ENSP00000364758:T902M;ENSP00000401422:T902M;ENSP00000364754:T929M;ENSP00000380225:T905M;ENSP00000440374:T872M;ENSP00000397285:T876M;ENSP00000364751:T876M;ENSP00000407722:T878M;ENSP00000405639:T870M;ENSP00000364747:T870M	.|ENSP00000364747:T870M	R|T	+|+	1|2	2|0	MCF2L|MCF2L	112790041|112790041	1.000000|1.000000	0.71417|0.71417	0.440000|0.440000	0.26846|0.26846	0.010000|0.010000	0.07245|0.07245	7.611000|7.611000	0.82962|0.82962	1.132000|1.132000	0.42129|0.42129	-0.136000|-0.136000	0.14681|0.14681	CGG|ACG		0.577	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4	0			13:113742040
SAMD4A	23034	broad.mit.edu	37	14	55226887	55226887	+	Silent	SNP	C	C	T	rs201991552	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr14:55226887C>T	ENST00000554335.1	+	7	1848	c.1185C>T	c.(1183-1185)atC>atT	p.I395I	SAMD4A_ENST00000251091.5_Silent_p.I307I|SAMD4A_ENST00000555192.1_5'UTR|SAMD4A_ENST00000357634.3_Silent_p.I394I|SAMD4A_ENST00000392067.3_Silent_p.I395I			Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	395					negative regulation of translation (GO:0017148)|positive regulation of translation (GO:0045727)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|synapse (GO:0045202)	poly(A) RNA binding (GO:0044822)|translation repressor activity (GO:0030371)	p.I394I(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						AGGACATCATCGAGGGGGGCA	0.632													C|||	7	0.00139776	0.0	0.0	5008	,	,		15963	0.0069		0.0	False		,,,				2504	0.0					ENST00000251091.5		NA																	1	Substitution - coding silent(1)	p.I394I(1)	large_intestine(1)	breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						c.(919-921)atC>atT		sterile alpha motif domain containing 4A							100.0	112.0	108.0					14																	55226887		2187	4267	6454	SO:0001819	synonymous_variant	23034				positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity	g.chr14:55226887C>T	AB028976	CCDS32084.1, CCDS55917.1, CCDS55918.1, CCDS32084.2, CCDS55917.2	14q22.2	2013-01-10	2006-01-27	2006-01-27	ENSG00000020577	ENSG00000020577		"""Sterile alpha motif (SAM) domain containing"""	23023	protein-coding gene	gene with protein product	"""smaug homolog (Drosophila)"""	610747	"""sterile alpha motif domain containing 4"""	SAMD4		16221671	Standard	NM_001161577		Approved	KIAA1053, DKFZP434H0350, Smaug, SMG, SMGA, hSmaug1	uc001xbb.4	Q9UPU9	OTTHUMG00000170999	ENST00000554335.1:c.1185C>T	14.37:g.55226887C>T		False	False		Somatic	0				SAMD4A_ENST00000554335.1_Silent_p.I395I|SAMD4A_ENST00000392067.3_Silent_p.I395I|SAMD4A_ENST00000357634.3_Silent_p.I394I|SAMD4A_ENST00000555192.1_5'UTR	p.I307I	NM_001161576.2	NP_001155048.2	WXS	Illumina HiSeq	Phase_I	Q9UPU9	SMAG1_HUMAN			5	1226	+			395					A8MPZ5|Q0VA96|Q6PEW4	Silent	SNP	ENST00000554335.1	37	c.921C>T	CCDS32084.2																																																																																				0.632	SAMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000411186.1	0	NM_015589		14:55226887
TLR3	7098	broad.mit.edu	37	4	187005297	187005297	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:187005297C>T	ENST00000296795.3	+	4	2561	c.2457C>T	c.(2455-2457)caC>caT	p.H819H	TLR3_ENST00000504367.1_Silent_p.H542H	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	819	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTATAACACACCATCTATTAA	0.299																																						ENST00000296795.3		NA																	0				breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(2455-2457)caC>caT		toll-like receptor 3							41.0	46.0	44.0					4																	187005297		2193	4295	6488	SO:0001819	synonymous_variant	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187005297C>T	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.2457C>T	4.37:g.187005297C>T		True	False		Somatic	0				TLR3_ENST00000504367.1_Silent_p.H542H	p.H819H	NM_003265.2	NP_003256.1	WXS	Illumina HiSeq	Phase_I	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	4	2561	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	NA			TIR.		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Silent	SNP	ENST00000296795.3	37	c.2457C>T	CCDS3846.1																																																																																				0.299	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4	0			4:187005297
RPGR	6103	broad.mit.edu	37	X	38158301	38158301	+	Silent	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:38158301A>G	ENST00000339363.3	-	10	1320	c.1153T>C	c.(1153-1155)Tta>Cta	p.L385L	RPGR_ENST00000338898.3_Silent_p.L385L|RPGR_ENST00000378505.2_Silent_p.L385L|RPGR_ENST00000342811.3_Silent_p.L385L|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000318842.7_Silent_p.L385L|RPGR_ENST00000309513.3_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	385					cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						GCCACAGATAAGCAAGTATCA	0.448																																						ENST00000378505.2		NA																	0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						c.(1153-1155)Tta>Cta		retinitis pigmentosa GTPase regulator							107.0	83.0	91.0					X																	38158301		2202	4300	6502	SO:0001819	synonymous_variant	6103				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding	g.chrX:38158301A>G	U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.1153T>C	X.37:g.38158301A>G		False	False		Somatic	0				TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000342811.3_Silent_p.L385L|RPGR_ENST00000309513.3_Intron|RPGR_ENST00000338898.3_Silent_p.L385L|RPGR_ENST00000318842.7_Silent_p.L385L|RPGR_ENST00000339363.3_Silent_p.L385L	p.L385L	NM_001034853.1	NP_001030025.1	WXS	Illumina HiSeq	Phase_I	Q92834	RPGR_HUMAN			10	1329	-			385					B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Silent	SNP	ENST00000339363.3	37	c.1153T>C																																																																																					0.448	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		0	NM_000328		X:38158301
IPO5	3843	broad.mit.edu	37	13	98666315	98666315	+	Silent	SNP	G	G	A	rs182747248	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr13:98666315G>A	ENST00000490680.1	+	19	2237	c.2172G>A	c.(2170-2172)gcG>gcA	p.A724A	IPO5_ENST00000539640.1_Silent_p.A599A|IPO5_ENST00000261574.5_Silent_p.A742A			O00410	IPO5_HUMAN	importin 5	724					cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)	p.A742A(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TGGCAGCAGCGGAATCCATGC	0.428													G|||	2	0.000399361	0.0	0.0014	5008	,	,		16157	0.0		0.001	False		,,,				2504	0.0					ENST00000261574.5		NA																	1	Substitution - coding silent(1)	p.A742A(1)	lung(1)	breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						c.(2224-2226)gcG>gcA		importin 5							119.0	121.0	120.0					13																	98666315		2203	4300	6503	SO:0001819	synonymous_variant	3843				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding	g.chr13:98666315G>A	U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.2172G>A	13.37:g.98666315G>A		False	False		Somatic	0				IPO5_ENST00000490680.1_Silent_p.A724A|IPO5_ENST00000539640.1_Silent_p.A599A	p.A742A	NM_002271.4	NP_002262.3	WXS	Illumina HiSeq	Phase_I	O00410	IPO5_HUMAN			22	2406	+			724					B4DZA0|O15257|Q5T578|Q86XC7	Silent	SNP	ENST00000490680.1	37	c.2226G>A		2	9.157509157509158E-4	0	0.0	1	0.0027624309392265192	0	0.0	1	0.0013192612137203166	G	10.67	1.415607	0.25552	.	.	ENSG00000065150	ENST00000469360	.	.	.	5.75	-3.63	0.04529	.	.	.	.	.	T	0.48537	0.1505	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45293	-0.9271	4	.	.	.	-3.754	6.4092	0.21682	0.4783:0.338:0.1837:0.0	.	.	.	.	Q	726	.	.	R	+	2	0	IPO5	97464316	0.954000	0.32549	0.947000	0.38551	0.989000	0.77384	0.135000	0.15952	-0.437000	0.07243	-0.294000	0.09567	CGG		0.428	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	0	NM_002271		13:98666315
CDHR1	92211	broad.mit.edu	37	10	85968486	85968486	+	Splice_Site	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:85968486G>A	ENST00000372117.3	+	12	1272	c.1169G>A	c.(1168-1170)gGa>gAa	p.G390E	CDHR1_ENST00000332904.3_Splice_Site_p.G390E|CDHR1_ENST00000440770.2_Splice_Site_p.G149E	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	390	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ATTCTCTAGGGAGCCAATGCC	0.453																																						ENST00000372117.3		NA																	0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						c.(1168-1170)gGa>gAa		cadherin-related family member 1							69.0	69.0	69.0					10																	85968486		2203	4300	6503	SO:0001630	splice_region_variant	92211				homophilic cell adhesion		calcium ion binding|receptor activity	g.chr10:85968486G>A	AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.1168-1G>A	10.37:g.85968486G>A		True	False		Somatic	0				CDHR1_ENST00000332904.3_Splice_Site_p.G390E|CDHR1_ENST00000440770.2_Splice_Site_p.G149E	p.G390E	NM_033100.2	NP_149091.1	WXS	Illumina HiSeq	Phase_I	Q96JP9	CDHR1_HUMAN			12	1272	+			390			Cadherin 4.		Q69YZ8|Q8IXY5	Splice_Site	SNP	ENST00000372117.3	37	c.1169G>A	CCDS7372.1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.705035	0.88924	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.64991	-0.05;-0.05;-0.13	5.53	5.53	0.82687	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.83866	0.5347	M	0.90922	3.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.86541	0.1828	10	0.56958	D	0.05	-10.8744	18.2373	0.89954	0.0:0.0:1.0:0.0	.	149;390;390	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	E	390;390;149	ENSP00000331063:G390E;ENSP00000361189:G390E;ENSP00000415980:G149E	ENSP00000331063:G390E	G	+	2	0	CDHR1	85958466	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	9.476000	0.97823	2.599000	0.87857	0.655000	0.94253	GGA		0.453	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049111.1	0	NM_033100	Missense_Mutation	10:85968486
PBRM1	55193	broad.mit.edu	37	3	52651477	52651477	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:52651477C>G	ENST00000296302.7	-	14	1620	c.1619G>C	c.(1618-1620)aGa>aCa	p.R540T	PBRM1_ENST00000337303.4_Missense_Mutation_p.R540T|PBRM1_ENST00000409114.3_Missense_Mutation_p.R555T|PBRM1_ENST00000409767.1_Missense_Mutation_p.R555T|PBRM1_ENST00000394830.3_Missense_Mutation_p.R540T|PBRM1_ENST00000410007.1_Missense_Mutation_p.R540T|PBRM1_ENST00000409057.1_Missense_Mutation_p.R540T|PBRM1_ENST00000356770.4_Missense_Mutation_p.R508T			Q86U86	PB1_HUMAN	polybromo 1	540	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.		R -> S (found in a case of clear cell renal carcinoma; somatic mutation). {ECO:0000269|PubMed:21248752}.		chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ACAAAGTCTTCTGCCTGAACC	0.368			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4		NA		Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(1522-1524)aGa>aCa		polybromo 1							98.0	98.0	98.0					3																	52651477		2203	4300	6503	SO:0001583	missense	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52651477C>G	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1619G>C	3.37:g.52651477C>G	ENSP00000296302:p.Arg540Thr	False	False		Somatic	0				PBRM1_ENST00000409767.1_Missense_Mutation_p.R555T|PBRM1_ENST00000410007.1_Missense_Mutation_p.R540T|PBRM1_ENST00000409057.1_Missense_Mutation_p.R540T|PBRM1_ENST00000337303.4_Missense_Mutation_p.R540T|PBRM1_ENST00000296302.7_Missense_Mutation_p.R540T|PBRM1_ENST00000394830.3_Missense_Mutation_p.R540T|PBRM1_ENST00000409114.3_Missense_Mutation_p.R555T	p.R508T			WXS	Illumina HiSeq	Phase_I	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	13	1525	-			540					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Missense_Mutation	SNP	ENST00000296302.7	37	c.1523G>C		.	.	.	.	.	.	.	.	.	.	C	29.0	4.968582	0.92855	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	T;T;T;T;T;T;T;T;T;T	0.18810	2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19;2.19	5.84	5.84	0.93424	Bromodomain (4);	0.000000	0.85682	D	0.000000	T	0.62648	0.2445	H	0.95224	3.64	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;1.0;0.998;1.0;1.0;0.999;0.999	D;D;D;D;D;D;D;D;D	0.97110	0.998;0.999;0.99;0.997;0.994;0.999;1.0;0.996;0.996	T	0.73626	-0.3923	10	0.87932	D	0	-3.581	20.139	0.98050	0.0:1.0:0.0:0.0	.	540;540;540;540;555;555;540;508;540	Q86U86-9;Q86U86-6;Q86U86-4;Q86U86-2;Q86U86-8;Q86U86-7;Q86U86;Q86U86-3;Q86U86-5	.;.;.;.;.;.;PB1_HUMAN;.;.	T	508;540;540;540;540;540;555;555;540;499	ENSP00000349213:R508T;ENSP00000378307:R540T;ENSP00000296302:R540T;ENSP00000338302:R540T;ENSP00000386593:R540T;ENSP00000386529:R540T;ENSP00000386643:R555T;ENSP00000386601:R555T;ENSP00000387775:R540T;ENSP00000397662:R499T	ENSP00000296302:R540T	R	-	2	0	PBRM1	52626517	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.764000	0.94973	0.655000	0.94253	AGA		0.368	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	0	NM_018165		3:52651477
HDAC9	9734	broad.mit.edu	37	7	18625006	18625006	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:18625006G>A	ENST00000432645.2	+	2	125	c.125G>A	c.(124-126)cGt>cAt	p.R42H	HDAC9_ENST00000456174.2_Missense_Mutation_p.R11H|HDAC9_ENST00000441542.2_Missense_Mutation_p.R42H|HDAC9_ENST00000417496.2_Missense_Mutation_p.R84H|HDAC9_ENST00000524023.1_Missense_Mutation_p.R11H|HDAC9_ENST00000406072.1_Missense_Mutation_p.R70H|HDAC9_ENST00000428307.2_Missense_Mutation_p.R42H|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000405010.3_Missense_Mutation_p.R42H|HDAC9_ENST00000401921.1_Missense_Mutation_p.R42H|HDAC9_ENST00000406451.4_Missense_Mutation_p.R42H	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9	42					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CCTGTTGTCCGTGAGAAGCAA	0.493																																						ENST00000406451.4		NA																	0				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82						c.(124-126)cGt>cAt		histone deacetylase 9	Valproic Acid(DB00313)						94.0	94.0	94.0					7																	18625006		1970	4179	6149	SO:0001583	missense	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18625006G>A	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.125G>A	7.37:g.18625006G>A	ENSP00000410337:p.Arg42His	False	False		Somatic	0				HDAC9_ENST00000524023.1_Missense_Mutation_p.R11H|HDAC9_ENST00000405010.3_Missense_Mutation_p.R42H|HDAC9_ENST00000441542.2_Missense_Mutation_p.R42H|HDAC9_ENST00000428307.2_Missense_Mutation_p.R42H|HDAC9_ENST00000406072.1_Missense_Mutation_p.R70H|HDAC9_ENST00000432645.2_Missense_Mutation_p.R42H|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000417496.2_Missense_Mutation_p.R84H|HDAC9_ENST00000401921.1_Missense_Mutation_p.R42H|HDAC9_ENST00000456174.2_Missense_Mutation_p.R11H	p.R42H	NM_178423.1	NP_848510.1	WXS	Illumina HiSeq	Phase_I	Q9UKV0	HDAC9_HUMAN			3	275	+	all_lung(11;0.187)		NA					A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Missense_Mutation	SNP	ENST00000432645.2	37	c.125G>A	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	36	5.684136	0.96774	.	.	ENSG00000048052	ENST00000417496;ENST00000262069;ENST00000413509;ENST00000413380;ENST00000430454;ENST00000405010;ENST00000406451;ENST00000428307;ENST00000406072;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000441986;ENST00000456174;ENST00000524023;ENST00000341009	T;T;T;T;T;T;T;T;T;T;T;T;T	0.60424	0.71;0.74;0.76;0.76;0.23;0.77;0.73;0.19;0.23;0.21;0.72;0.78;0.81	5.93	5.93	0.95920	Histone deacetylase, glutamine rich N-terminal domain (1);	0.324775	0.26840	N	0.022229	T	0.71945	0.3400	L	0.42245	1.32	0.58432	D	0.999996	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;0.998;1.0;0.999;1.0;0.998;1.0;1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.928;0.928;0.953;0.952;0.973;0.928;0.953;0.953;0.987;0.998;0.953;0.917;0.973	T	0.69942	-0.5008	10	0.51188	T	0.08	-10.7869	20.3368	0.98748	0.0:0.0:1.0:0.0	.	11;11;42;70;84;42;42;42;42;11;42;42;61	E7EX34;C9JS87;Q9UKV0-4;B5MCF1;B7Z917;Q68D71;Q9UKV0-6;Q9UKV0-7;Q9UKV0;B7Z928;Q9UKV0-5;Q9UKV0-3;Q8N879	.;.;.;.;.;.;.;.;HDAC9_HUMAN;.;.;.;.	H	84;87;42;42;11;42;42;42;70;42;42;42;11;11;11;42	ENSP00000401669:R84H;ENSP00000412497:R42H;ENSP00000392564:R42H;ENSP00000384382:R42H;ENSP00000384657:R42H;ENSP00000395655:R42H;ENSP00000384017:R70H;ENSP00000383912:R42H;ENSP00000410337:R42H;ENSP00000408617:R42H;ENSP00000404763:R11H;ENSP00000388568:R11H;ENSP00000430036:R11H	ENSP00000262069:R87H	R	+	2	0	HDAC9	18591531	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.805000	0.96524	0.655000	0.94253	CGT		0.493	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1	0			7:18625006
CDC37	11140	broad.mit.edu	37	19	10506629	10506629	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:10506629G>A	ENST00000222005.2	-	2	406	c.353C>T	c.(352-354)aCg>aTg	p.T118M		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	118					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		TTTGCTGAGCGTGTCCACGTT	0.662																																						ENST00000222005.2		NA																	0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16						c.(352-354)aCg>aTg		cell division cycle 37							132.0	122.0	125.0					19																	10506629		2203	4300	6503	SO:0001583	missense	11140				protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	g.chr19:10506629G>A	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"""	605065	"""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog (S. cerevisiae)"", ""cell division cycle 37 homolog (S. cerevisiae)"""			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.353C>T	19.37:g.10506629G>A	ENSP00000222005:p.Thr118Met	False	False		Somatic	0					p.T118M	NM_007065.3	NP_008996.1	WXS	Illumina HiSeq	Phase_I	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	2	406	-			118					Q53YA2	Missense_Mutation	SNP	ENST00000222005.2	37	c.353C>T	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	G	17.30	3.355303	0.61293	.	.	ENSG00000105401	ENST00000222005	T	0.50813	0.73	4.05	4.05	0.47172	Cdc37, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.56016	0.1957	M	0.91196	3.185	0.80722	D	1	P;P	0.38827	0.649;0.649	B;B	0.35114	0.196;0.196	T	0.70073	-0.4972	10	0.87932	D	0	.	14.0814	0.64925	0.0:0.0:1.0:0.0	.	118;118	Q6FG59;Q16543	.;CDC37_HUMAN	M	118	ENSP00000222005:T118M	ENSP00000222005:T118M	T	-	2	0	CDC37	10367629	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.983000	0.93477	1.969000	0.57287	0.555000	0.69702	ACG		0.662	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	0	NM_007065		19:10506629
GPR50	9248	broad.mit.edu	37	X	150349207	150349207	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chrX:150349207C>T	ENST00000218316.3	+	2	1221	c.1152C>T	c.(1150-1152)ggC>ggT	p.G384G	GPR50-AS1_ENST00000454196.1_RNA|AF003625.3_ENST00000602313.1_lincRNA	NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	384	Pro-rich.				cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|identical protein binding (GO:0042802)|melatonin receptor activity (GO:0008502)			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCCTCTGGCCACCCTAAGC	0.587																																						ENST00000218316.3		NA																	0				breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38						c.(1150-1152)ggC>ggT		G protein-coupled receptor 50							93.0	105.0	101.0					X																	150349207		2132	4222	6354	SO:0001819	synonymous_variant	9248				cell-cell signaling	integral to plasma membrane	melatonin receptor activity	g.chrX:150349207C>T	U52219	CCDS44012.1	Xq28	2012-08-21			ENSG00000102195	ENSG00000102195		"""GPCR / Class A : Orphans"""	4506	protein-coding gene	gene with protein product		300207				9933574, 18400093	Standard	NM_004224		Approved	H9, Mel1c	uc010ntg.2	Q13585	OTTHUMG00000024166	ENST00000218316.3:c.1152C>T	X.37:g.150349207C>T		False	False		Somatic	0					p.G384G	NM_004224.3	NP_004215.2	WXS	Illumina HiSeq	Phase_I	Q13585	MTR1L_HUMAN			2	1221	+	Acute lymphoblastic leukemia(192;6.56e-05)		384			Pro-rich.		Q0VGG3|Q3ZAR0	Silent	SNP	ENST00000218316.3	37	c.1152C>T	CCDS44012.1																																																																																				0.587	GPR50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060874.1	0	NM_004224		X:150349207
BAI3	577	broad.mit.edu	37	6	69349053	69349053	+	Missense_Mutation	SNP	C	C	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:69349053C>A	ENST00000370598.1	+	3	1307	c.486C>A	c.(484-486)agC>agA	p.S162R		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	162					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACAAGGTCAGCCCAAGCCAGT	0.368																																						ENST00000370598.1		NA																	0				NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210						c.(484-486)agC>agA		brain-specific angiogenesis inhibitor 3							74.0	75.0	75.0					6																	69349053		2203	4300	6503	SO:0001583	missense	577				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr6:69349053C>A	AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.486C>A	6.37:g.69349053C>A	ENSP00000359630:p.Ser162Arg	True	False		Somatic	0					p.S162R	NM_001704.2	NP_001695	WXS	Illumina HiSeq	Phase_I	O60242	BAI3_HUMAN			3	1307	+		all_lung(197;0.212)	162					B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	c.486C>A	CCDS4968.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555672	0.45487	.	.	ENSG00000135298	ENST00000370598	T	0.21361	2.01	5.23	5.23	0.72850	.	0.059956	0.64402	D	0.000005	T	0.11750	0.0286	N	0.22421	0.69	0.80722	D	1	P	0.44578	0.838	B	0.41860	0.368	T	0.03534	-1.1027	10	0.87932	D	0	.	19.1611	0.93533	0.0:1.0:0.0:0.0	.	162	O60242	BAI3_HUMAN	R	162	ENSP00000359630:S162R	ENSP00000359630:S162R	S	+	3	2	BAI3	69405774	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.445000	0.80570	2.610000	0.88304	0.655000	0.94253	AGC		0.368	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1	0			6:69349053
OR10H4	126541	broad.mit.edu	37	19	16060573	16060573	+	Silent	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:16060573G>A	ENST00000322107.1	+	1	756	c.756G>A	c.(754-756)acG>acA	p.T252T		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						TGGTGGTCACGCACTATAGTT	0.517																																						ENST00000322107.1		NA																	0				breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						c.(754-756)acG>acA		olfactory receptor, family 10, subfamily H, member 4							169.0	141.0	151.0					19																	16060573		2203	4300	6503	SO:0001819	synonymous_variant	126541				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:16060573G>A	AC011517	CCDS32941.1	19p13.12	2013-09-24			ENSG00000176231	ENSG00000176231		"""GPCR / Class A : Olfactory receptors"""	15388	protein-coding gene	gene with protein product							Standard	NM_001004465		Approved		uc010xov.2	Q8NGA5	OTTHUMG00000182268	ENST00000322107.1:c.756G>A	19.37:g.16060573G>A		False	False		Somatic	0					p.T252T	NM_001004465.1	NP_001004465.1	WXS	Illumina HiSeq	Phase_I	Q8NGA5	O10H4_HUMAN			1	756	+			252					Q6IFJ2|Q96R57	Silent	SNP	ENST00000322107.1	37	c.756G>A	CCDS32941.1																																																																																				0.517	OR10H4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460311.1	0			19:16060573
ZNF780A	284323	broad.mit.edu	37	19	40581529	40581529	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:40581529C>T	ENST00000595687.2	-	6	1029	c.820G>A	c.(820-822)Gta>Ata	p.V274I	ZNF780A_ENST00000340963.5_Missense_Mutation_p.V274I|ZNF780A_ENST00000594395.1_Missense_Mutation_p.V275I|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000450241.2_Missense_Mutation_p.V240I|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Missense_Mutation_p.V275I	NM_001010880.2	NP_001010880.2	O75290	Z780A_HUMAN	zinc finger protein 780A	274					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TATGGTTTTACACCAGAATGA	0.388																																						ENST00000450241.2		NA																	0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31						c.(718-720)Gta>Ata		zinc finger protein 780A							172.0	176.0	174.0					19																	40581529		2203	4300	6503	SO:0001583	missense	284323				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40581529C>T	AK091274	CCDS33026.2, CCDS46078.1, CCDS46079.1	19q13.2	2014-02-12	2006-08-15		ENSG00000197782	ENSG00000197782		"""Zinc fingers, C2H2-type"", ""-"""	27603	protein-coding gene	gene with protein product							Standard	NM_001142577		Approved	ZNF780	uc010xvh.2	O75290	OTTHUMG00000155119	ENST00000595687.2:c.820G>A	19.37:g.40581529C>T	ENSP00000472189:p.Val274Ile	False	False		Somatic	0				ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000340963.5_Missense_Mutation_p.V274I|ZNF780A_ENST00000594395.1_Missense_Mutation_p.V275I|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000455521.1_Missense_Mutation_p.V275I|ZNF780A_ENST00000595687.2_Missense_Mutation_p.V274I	p.V240I			WXS	Illumina HiSeq	Phase_I	O75290	Z780A_HUMAN			6	1029	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		274					E9PB48|Q6ZN87	Missense_Mutation	SNP	ENST00000595687.2	37	c.718G>A	CCDS33026.2	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528602	0.64860	.	.	ENSG00000197782	ENST00000450241;ENST00000455521;ENST00000340963	T;T	0.18810	2.19;2.19	1.92	-0.891	0.10573	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13200	0.0320	N	0.17674	0.51	0.25023	N	0.991324	P;P	0.35684	0.514;0.515	B;B	0.38156	0.216;0.266	T	0.24764	-1.0151	9	0.72032	D	0.01	.	6.0621	0.19844	0.0:0.6973:0.0:0.3027	.	275;274	E9PB48;O75290	.;Z780A_HUMAN	I	274;275;274	ENSP00000400997:V275I;ENSP00000341507:V274I	ENSP00000341507:V274I	V	-	1	0	ZNF780A	45273369	0.000000	0.05858	0.569000	0.28460	0.853000	0.48598	0.808000	0.27154	-0.307000	0.08804	0.305000	0.20034	GTA		0.388	ZNF780A-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000470066.1	0	NM_001010880		19:40581529
SGOL2	151246	broad.mit.edu	37	2	201436187	201436187	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:201436187G>A	ENST00000357799.4	+	7	1216	c.1118G>A	c.(1117-1119)aGc>aAc	p.S373N		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	373					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AGTGAAGTCAGCAAAATTGTC	0.338																																						ENST00000357799.4		NA																	0				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						c.(1117-1119)aGc>aAc		shugoshin-like 2 (S. pombe)							36.0	34.0	35.0					2																	201436187		1865	4088	5953	SO:0001583	missense	151246				cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	g.chr2:201436187G>A	AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.1118G>A	2.37:g.201436187G>A	ENSP00000350447:p.Ser373Asn	False	False		Somatic	0					p.S373N	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	WXS	Illumina HiSeq	Phase_I	Q562F6	SGOL2_HUMAN			7	1216	+			373					Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Missense_Mutation	SNP	ENST00000357799.4	37	c.1118G>A	CCDS42796.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256435	0.39896	.	.	ENSG00000163535	ENST00000357799	T	0.17854	2.25	5.15	4.27	0.50696	.	0.291860	0.35495	N	0.003171	T	0.34774	0.0909	L	0.60455	1.87	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.67382	0.951;0.951;0.951	T	0.08006	-1.0743	10	0.62326	D	0.03	-1.2818	12.1889	0.54257	0.0788:0.0:0.9212:0.0	.	373;373;373	B7Z7S9;Q562F6-2;Q562F6	.;.;SGOL2_HUMAN	N	373	ENSP00000350447:S373N	ENSP00000350447:S373N	S	+	2	0	SGOL2	201144432	0.995000	0.38212	0.175000	0.22980	0.321000	0.28281	2.428000	0.44749	1.538000	0.49270	0.585000	0.79938	AGC		0.338	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335834.1	0	NM_152524		2:201436187
MYOM2	9172	broad.mit.edu	37	8	2092682	2092682	+	Missense_Mutation	SNP	C	C	T	rs367862562		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr8:2092682C>T	ENST00000262113.4	+	37	4316	c.4175C>T	c.(4174-4176)tCg>tTg	p.S1392L	MYOM2_ENST00000523438.1_Missense_Mutation_p.S817L|MYOM2_ENST00000520298.1_3'UTR	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	1392	Ig-like C2-type 5.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GAGCACTTCTCGGTGAAGGTG	0.527																																						ENST00000262113.4		NA																	0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(4174-4176)tCg>tTg		myomesin 2		C	LEU/SER	4,4402	8.1+/-20.4	0,4,2199	118.0	100.0	106.0		4175	-3.6	0.0	8		106	1,8599	1.2+/-3.3	0,1,4299	no	missense	MYOM2	NM_003970.2	145	0,5,6498	TT,TC,CC		0.0116,0.0908,0.0384	benign	1392/1466	2092682	5,13001	2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2092682C>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.4175C>T	8.37:g.2092682C>T	ENSP00000262113:p.Ser1392Leu	False	False		Somatic	0				MYOM2_ENST00000523438.1_Missense_Mutation_p.S817L|MYOM2_ENST00000520298.1_3'UTR	p.S1392L	NM_003970.2	NP_003961.2	WXS	Illumina HiSeq	Phase_I	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	37	4316	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	1392			Ig-like C2-type 5.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.4175C>T	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	C	9.137	1.012872	0.19277	9.08E-4	1.16E-4	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.67865	-0.29;-0.29	5.24	-3.6	0.04570	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.978980	0.01974	N	0.044348	T	0.49406	0.1555	N	0.21240	0.645	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.25606	-1.0127	10	0.27785	T	0.31	.	6.7144	0.23294	0.184:0.3622:0.0:0.4538	.	1392	P54296	MYOM2_HUMAN	L	1392;817	ENSP00000262113:S1392L;ENSP00000428396:S817L	ENSP00000262113:S1392L	S	+	2	0	MYOM2	2080089	0.000000	0.05858	0.000000	0.03702	0.586000	0.36452	-1.046000	0.03525	-0.582000	0.05929	0.655000	0.94253	TCG		0.527	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	0	NM_003970		8:2092682
IFIH1	64135	broad.mit.edu	37	2	163134021	163134021	+	Missense_Mutation	SNP	C	C	A	rs567418553	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:163134021C>A	ENST00000263642.2	-	10	2343	c.1948G>T	c.(1948-1950)Gat>Tat	p.D650Y		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	650					cytoplasmic pattern recognition receptor signaling pathway in response to virus (GO:0039528)|detection of virus (GO:0009597)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|protein sumoylation (GO:0016925)|regulation of apoptotic process (GO:0042981)|regulation of type III interferon production (GO:0034344)|response to virus (GO:0009615)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|ribonucleoprotein complex binding (GO:0043021)|single-stranded RNA binding (GO:0003727)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						tactcatcatcaccaccctca	0.328																																						ENST00000263642.2		NA																	0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						c.(1948-1950)Gat>Tat		interferon induced with helicase C domain 1							119.0	99.0	106.0					2																	163134021		2202	4298	6500	SO:0001583	missense	64135				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding	g.chr2:163134021C>A	AF095844	CCDS2217.1	2q24.2	2010-02-09			ENSG00000115267	ENSG00000115267			18873	protein-coding gene	gene with protein product	"""helicard"""	606951					Standard	NM_022168		Approved	MDA-5, Hlcd, MDA5, IDDM19	uc002uce.4	Q9BYX4	OTTHUMG00000132055	ENST00000263642.2:c.1948G>T	2.37:g.163134021C>A	ENSP00000263642:p.Asp650Tyr	True	False		Somatic	0					p.D650Y	NM_022168.3	NP_071451.2	WXS	Illumina HiSeq	Phase_I	Q9BYX4	IFIH1_HUMAN			10	2343	-			650					Q2NKL6|Q6DC96|Q86X56|Q96MX8|Q9H3G6	Missense_Mutation	SNP	ENST00000263642.2	37	c.1948G>T	CCDS2217.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461433	0.43736	.	.	ENSG00000115267	ENST00000263642;ENST00000543192	T	0.05382	3.45	5.07	2.26	0.28386	.	0.611706	0.14567	N	0.311694	T	0.07954	0.0199	L	0.51422	1.61	0.09310	N	1	P	0.44090	0.826	B	0.41088	0.347	T	0.19679	-1.0298	10	0.48119	T	0.1	-4.9411	10.219	0.43186	0.0:0.7829:0.0:0.2171	.	650	Q9BYX4	IFIH1_HUMAN	Y	650	ENSP00000263642:D650Y	ENSP00000263642:D650Y	D	-	1	0	IFIH1	162842267	0.001000	0.12720	0.003000	0.11579	0.450000	0.32258	0.372000	0.20467	0.728000	0.32382	0.655000	0.94253	GAT		0.328	IFIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255078.2	0	NM_022168		2:163134021
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	WXS	Illumina HiSeq	Phase_I	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	0	NM_033360		12:25398284
SMC2	10592	broad.mit.edu	37	9	106889705	106889705	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:106889705G>A	ENST00000286398.7	+	20	3022	c.2734G>A	c.(2734-2736)Gaa>Aaa	p.E912K	SMC2_ENST00000374787.3_Missense_Mutation_p.E912K|SMC2_ENST00000303219.8_Missense_Mutation_p.E912K|SMC2_ENST00000374793.3_Missense_Mutation_p.E912K	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	912					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	condensed chromosome (GO:0000793)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TAAAATTAAGGAATTAGACCA	0.353																																						ENST00000286398.7		NA																	0				breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						c.(2734-2736)Gaa>Aaa		structural maintenance of chromosomes 2							145.0	139.0	141.0					9																	106889705		2203	4300	6503	SO:0001583	missense	10592				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity	g.chr9:106889705G>A	AF092563	CCDS35086.1	9q31.1	2008-05-14	2006-07-06	2006-07-06	ENSG00000136824	ENSG00000136824		"""Structural maintenance of chromosomes proteins"""	14011	protein-coding gene	gene with protein product		605576	"""SMC2 (structural maintenance of chromosomes 2, yeast)-like 1"", ""SMC2 structural maintenance of chromosomes 2-like 1 (yeast)"""	SMC2L1		9789013	Standard	NM_006444		Approved	hCAP-E, CAP-E	uc011lvl.2	O95347	OTTHUMG00000020401	ENST00000286398.7:c.2734G>A	9.37:g.106889705G>A	ENSP00000286398:p.Glu912Lys	False	False		Somatic	0				SMC2_ENST00000374787.3_Missense_Mutation_p.E912K|SMC2_ENST00000374793.3_Missense_Mutation_p.E912K|SMC2_ENST00000303219.8_Missense_Mutation_p.E912K	p.E912K	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	WXS	Illumina HiSeq	Phase_I	O95347	SMC2_HUMAN			20	3022	+			912					Q6IEE0|Q9P1P2	Missense_Mutation	SNP	ENST00000286398.7	37	c.2734G>A	CCDS35086.1	.	.	.	.	.	.	.	.	.	.	G	13.82	2.350640	0.41599	.	.	ENSG00000136824	ENST00000286398;ENST00000374793;ENST00000303219;ENST00000374787	T;T;T;T	0.78003	-0.49;-0.49;-1.14;-0.49	5.84	5.84	0.93424	RecF/RecN/SMC (1);	0.000000	0.85682	D	0.000000	T	0.53578	0.1805	N	0.02286	-0.61	0.58432	D	0.999999	B	0.06786	0.001	B	0.06405	0.002	T	0.57676	-0.7770	10	0.02654	T	1	-15.7009	18.7141	0.91668	0.0:0.0:1.0:0.0	.	912	O95347	SMC2_HUMAN	K	912	ENSP00000286398:E912K;ENSP00000363925:E912K;ENSP00000306152:E912K;ENSP00000363919:E912K	ENSP00000286398:E912K	E	+	1	0	SMC2	105929526	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.084000	0.71335	2.763000	0.94921	0.650000	0.86243	GAA		0.353	SMC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053470.1	0			9:106889705
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr16:29110438T>C	ENST00000564580.1	+	0	1111							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2									p.L368P(6)									TTGCAGTATCTTCAGAGTCTG	0.328																																						ENST00000564580.1		NA																	6	Substitution - Missense(6)	p.L368P(6)	endometrium(5)|kidney(1)		NA																																														0							g.chr16:29110438T>C			16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29110438T>C		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I					0	1111	+			NA						RNA	SNP	ENST00000564580.1	37			.	.	.	.	.	.	.	.	.	.	t	5.164	0.215759	0.09810	.	.	ENSG00000103472	ENST00000427965	.	.	.	1.93	1.93	0.25924	.	0.000000	0.64402	U	0.000008	T	0.52645	0.1747	.	.	.	.	.	.	.	.	.	.	.	.	T	0.63580	-0.6605	5	0.56958	D	0.05	.	7.5159	0.27600	0.0:0.0:0.0:1.0	.	.	.	.	P	368	.	ENSP00000398611:L368P	L	+	2	0	AC009093.1	29017939	1.000000	0.71417	0.752000	0.31206	0.354000	0.29330	6.384000	0.73177	0.893000	0.36288	0.155000	0.16302	CTT		0.328	RRN3P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000433243.1	0	NR_003369		16:29110438
ACADM	34	broad.mit.edu	37	1	76226969	76226969	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:76226969A>G	ENST00000370841.4	+	11	1545	c.1108A>G	c.(1108-1110)Act>Gct	p.T370A	ACADM_ENST00000543667.1_Missense_Mutation_p.T181A|ACADM_ENST00000370834.5_Missense_Mutation_p.T403A|ACADM_ENST00000420607.2_Missense_Mutation_p.T374A|ACADM_ENST00000541113.1_Missense_Mutation_p.T334A|ACADM_ENST00000481374.1_3'UTR	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	370					cardiac muscle cell differentiation (GO:0055007)|carnitine biosynthetic process (GO:0045329)|carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|glycogen biosynthetic process (GO:0005978)|liver development (GO:0001889)|medium-chain fatty acid catabolic process (GO:0051793)|medium-chain fatty acid metabolic process (GO:0051791)|oxidation-reduction process (GO:0055114)|post-embryonic development (GO:0009791)|regulation of gluconeogenesis (GO:0006111)|response to cold (GO:0009409)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	axon (GO:0030424)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|identical protein binding (GO:0042802)|medium-chain-acyl-CoA dehydrogenase activity (GO:0070991)			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18					Flavin adenine dinucleotide(DB03147)	TCAGTTAGCTACTGATGCTGT	0.393																																						ENST00000370841.4		NA																	0				breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						c.(1108-1110)Act>Gct		acyl-CoA dehydrogenase, C-4 to C-12 straight chain							160.0	152.0	155.0					1																	76226969		2203	4300	6503	SO:0001583	missense	34				carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity	g.chr1:76226969A>G	M16827	CCDS668.1, CCDS44165.1, CCDS65562.1, CCDS72807.1	1p31	2014-09-17	2010-04-30		ENSG00000117054	ENSG00000117054	1.3.99.3		89	protein-coding gene	gene with protein product		607008	"""acyl-Coenzyme A dehydrogenase, C-4 to C-12 straight chain"""			3035565	Standard	NM_000016		Approved	MCAD, MCADH, ACAD1	uc009wbp.3	P11310	OTTHUMG00000009784	ENST00000370841.4:c.1108A>G	1.37:g.76226969A>G	ENSP00000359878:p.Thr370Ala	False	False		Somatic	0				ACADM_ENST00000543667.1_Missense_Mutation_p.T181A|ACADM_ENST00000370834.5_Missense_Mutation_p.T403A|ACADM_ENST00000481374.1_3'UTR|ACADM_ENST00000541113.1_Missense_Mutation_p.T334A|ACADM_ENST00000420607.2_Missense_Mutation_p.T374A	p.T370A	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	WXS	Illumina HiSeq	Phase_I	P11310	ACADM_HUMAN			11	1545	+			370					Q5T4U4|Q9NYF1	Missense_Mutation	SNP	ENST00000370841.4	37	c.1108A>G	CCDS668.1	.	.	.	.	.	.	.	.	.	.	A	10.88	1.475492	0.26511	.	.	ENSG00000117054	ENST00000370841;ENST00000370834;ENST00000541113;ENST00000543667;ENST00000420607	D;D;D;D;D	0.95885	-3.84;-3.84;-3.84;-3.84;-3.84	5.21	-0.354	0.12591	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.749864	0.13164	N	0.408858	D	0.84479	0.5481	L	0.39514	1.22	0.09310	N	0.999999	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.12156	0.003;0.005;0.007;0.002;0.005	T	0.76751	-0.2844	10	0.56958	D	0.05	.	6.9288	0.24429	0.3076:0.0:0.0733:0.619	.	334;284;403;374;370	B7Z9I1;B4DVE0;Q5T4U5;P11310-2;P11310	.;.;.;.;ACADM_HUMAN	A	370;403;334;181;374	ENSP00000359878:T370A;ENSP00000359871:T403A;ENSP00000442324:T334A;ENSP00000446176:T181A;ENSP00000409612:T374A	ENSP00000359871:T403A	T	+	1	0	ACADM	75999557	0.000000	0.05858	0.515000	0.27774	0.808000	0.45660	-2.126000	0.01316	-0.251000	0.09542	0.482000	0.46254	ACT		0.393	ACADM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000026967.1	0			1:76226969
ASUN	55726	broad.mit.edu	37	12	27078694	27078694	+	Splice_Site	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr12:27078694C>G	ENST00000261191.7	-	6	1211	c.675G>C	c.(673-675)gaG>gaC	p.E225D	ASUN_ENST00000539625.1_Splice_Site_p.E124D	NM_018164.2	NP_060634.2	Q9NVM9	ASUN_HUMAN	asunder spermatogenesis regulator	225					centrosome localization (GO:0051642)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|protein localization to nuclear envelope (GO:0090435)|regulation of fertilization (GO:0080154)|regulation of mitotic cell cycle (GO:0007346)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CAACACTCACCTCTTTTTTAG	0.348																																						ENST00000261191.7		NA																	0					NA						c.(673-675)gaG>gaC		asunder spermatogenesis regulator							95.0	93.0	94.0					12																	27078694		2202	4300	6502	SO:0001630	splice_region_variant	55726				cell division|mitosis|regulation of mitotic cell cycle		protein binding	g.chr12:27078694C>G	AK001222	CCDS8708.1	12p12.3	2013-05-08	2013-05-08	2011-12-09	ENSG00000064102	ENSG00000064102			20174	protein-coding gene	gene with protein product	"""spermatogenesis associated 30"""	615079	"""chromosome 12 open reading frame 11"", ""asunder, spermatogenesis regulator homolog (Drosphila)"""	C12orf11		12414650, 19357193, 23097494	Standard	NM_018164		Approved	FLJ10637, NET48, Mat89Bb, SPATA30	uc001rhk.4	Q9NVM9	OTTHUMG00000169193	ENST00000261191.7:c.675+1G>C	12.37:g.27078694C>G		False	False		Somatic	0				ASUN_ENST00000539625.1_Splice_Site_p.E124D	p.E225D	NM_018164.2	NP_060634.2	WXS	Illumina HiSeq	Phase_I	Q9NVM9	M89BB_HUMAN			6	1211	-			225					B4DNK1|Q86WE2|Q96HM2|Q9BTX2|Q9NTB6|Q9NVM5	Splice_Site	SNP	ENST00000261191.7	37	c.675G>C	CCDS8708.1	.	.	.	.	.	.	.	.	.	.	C	17.52	3.409355	0.62399	.	.	ENSG00000064102	ENST00000261191;ENST00000539625;ENST00000538727;ENST00000544548	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	4.76	2.43	0.29744	.	0.000000	0.85682	D	0.000000	T	0.34629	0.0904	L	0.31065	0.9	0.58432	D	0.999994	B	0.06786	0.001	B	0.12156	0.007	T	0.07009	-1.0795	9	.	.	.	-8.5557	7.2815	0.26314	0.1533:0.7342:0.0:0.1125	.	225	Q9NVM9	M89BB_HUMAN	D	225;124;124;225	ENSP00000261191:E225D;ENSP00000443724:E124D;ENSP00000448467:E124D;ENSP00000446183:E225D	.	E	-	3	2	C12orf11	26969961	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	2.975000	0.49281	0.460000	0.27045	0.585000	0.79938	GAG		0.348	ASUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402819.1	0	NM_018164	Missense_Mutation	12:27078694
TTN	7273	broad.mit.edu	37	2	179578044	179578044	+	Silent	SNP	G	G	A	rs370757633		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:179578044G>A	ENST00000591111.1	-	91	26090	c.25866C>T	c.(25864-25866)tcC>tcT	p.S8622S	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Silent_p.S8939S|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.S7695S			Q8WZ42	TITIN_HUMAN	titin	12780	Ig-like 69.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAGGAGCCGGATAGACCAT	0.393																																						ENST00000589042.1		NA																	0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(26815-26817)tcC>tcT		titin		G	,,,	1,3717		0,1,1858	59.0	50.0	53.0		,23085,,	-2.7	0.7	2		53	0,8196		0,0,4098	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,5956	AA,AG,GG		0.0,0.0269,0.0084	,,,	,7695/33424,,	179578044	1,11913	1859	4098	5957	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179578044G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.25866C>T	2.37:g.179578044G>A		False	False		Somatic	0				TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.S8622S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.S7695S	p.S8939S	NM_001267550.1	NP_001254479.1	WXS	Illumina HiSeq	Phase_I	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		93	27041	-			8622			Ig-like 72.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.26817C>T																																																																																					0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179578044
DSCAML1	57453	broad.mit.edu	37	11	117376404	117376404	+	Silent	SNP	G	G	A	rs140529836	byFrequency	TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:117376404G>A	ENST00000321322.6	-	9	2008	c.2007C>T	c.(2005-2007)atC>atT	p.I669I	DSCAML1_ENST00000527706.1_Silent_p.I399I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	609	Ig-like C2-type 7.				axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCAGCTGGCCGATGGAGGCGG	0.637													G|||	5	0.000998403	0.0038	0.0	5008	,	,		18888	0.0		0.0	False		,,,				2504	0.0					ENST00000321322.6		NA																	0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110						c.(2005-2007)atC>atT		Down syndrome cell adhesion molecule like 1		G		4,4398	8.1+/-20.4	0,4,2197	80.0	64.0	69.0		2007	-3.8	0.9	11	dbSNP_134	69	0,8592		0,0,4296	no	coding-synonymous	DSCAML1	NM_020693.2		0,4,6493	AA,AG,GG		0.0,0.0909,0.0308		669/2114	117376404	4,12990	2201	4296	6497	SO:0001819	synonymous_variant	57453				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	g.chr11:117376404G>A		CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.2007C>T	11.37:g.117376404G>A		False	False		Somatic	0				DSCAML1_ENST00000527706.1_Silent_p.I399I	p.I669I	NM_020693.2	NP_065744.2	WXS	Illumina HiSeq	Phase_I	Q8TD84	DSCL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)	9	2008	-	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)	609			Ig-like C2-type 7.		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Silent	SNP	ENST00000321322.6	37	c.2007C>T	CCDS8384.1																																																																																				0.637	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392907.2	0	NM_020693		11:117376404
PBRM1	55193	broad.mit.edu	37	3	52651382	52651382	+	Nonsense_Mutation	SNP	C	C	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:52651382C>A	ENST00000296302.7	-	14	1715	c.1714G>T	c.(1714-1716)Gag>Tag	p.E572*	PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E572*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E587*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E587*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E572*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E572*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E572*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.E540*			Q86U86	PB1_HUMAN	polybromo 1	572	Bromo 4. {ECO:0000255|PROSITE- ProRule:PRU00035}.				chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.E572fs*16(2)|p.E540fs*16(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATGTTATGCTCAATTATTTTC	0.398			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4		NA		Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		3	Insertion - Frameshift(3)	p.E572fs*16(2)|p.E540fs*16(1)	kidney(3)	breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(1618-1620)Gag>Tag		polybromo 1							119.0	115.0	117.0					3																	52651382		2203	4300	6503	SO:0001587	stop_gained	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52651382C>A	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.1714G>T	3.37:g.52651382C>A	ENSP00000296302:p.Glu572*	False	False		Somatic	0				PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E587*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E572*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E572*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E572*|PBRM1_ENST00000296302.7_Nonsense_Mutation_p.E572*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E572*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E587*	p.E540*			WXS	Illumina HiSeq	Phase_I	Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	13	1620	-			572		R -> S (found in a case of clear cell renal carcinoma; somatic mutation).	Bromo 4.		A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37	c.1618G>T		.	.	.	.	.	.	.	.	.	.	C	39	7.497543	0.98322	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351;ENST00000446103	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-5.8047	20.139	0.98050	0.0:1.0:0.0:0.0	.	.	.	.	X	540;572;572;572;572;572;587;587;572;531	.	ENSP00000296302:E572X	E	-	1	0	PBRM1	52626422	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.764000	0.94973	0.655000	0.94253	GAG		0.398	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	0	NM_018165		3:52651382
TLN1	7094	broad.mit.edu	37	9	35733435	35733435	+	5'Flank	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:35733435T>C	ENST00000314888.9	-	0	0				CREB3_ENST00000353704.2_Silent_p.L130L|CREB3_ENST00000486056.1_3'UTR|TLN1_ENST00000540444.1_5'Flank	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GAAGAGTCTATTGGAGAAGGA	0.468																																						ENST00000353704.2		NA																	0				endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9						c.(388-390)Ttg>Ctg		cAMP responsive element binding protein 3							103.0	94.0	97.0					9																	35733435		2203	4300	6503	SO:0001631	upstream_gene_variant	10488				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr9:35733435T>C	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874		9.37:g.35733435T>C	Exception_encountered	False	False		Somatic	0				CREB3_ENST00000486056.1_3'UTR	p.L130L	NM_006368.4	NP_006359.3	WXS	Illumina HiSeq	Phase_I	O43889	CREB3_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)	4	826	+	all_epithelial(49;0.167)		154					A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	ENST00000314888.9	37	c.388T>C	CCDS35009.1																																																																																				0.468	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	0	NM_006289		9:35733435
METAP1	23173	broad.mit.edu	37	4	99982458	99982458	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:99982458C>T	ENST00000296411.6	+	11	1285	c.1151C>T	c.(1150-1152)tCt>tTt	p.S384F	METAP1_ENST00000544031.1_Missense_Mutation_p.S334F	NM_015143.2	NP_055958.2	P53582	MAP11_HUMAN	methionyl aminopeptidase 1	384					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|phototransduction, visible light (GO:0007603)|platelet aggregation (GO:0070527)|protein initiator methionine removal (GO:0070084)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|regulation of translation (GO:0006417)|rhodopsin mediated signaling pathway (GO:0016056)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic ribosome (GO:0022626)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)		CACTTCATGTCTCAATTTTAA	0.458																																						ENST00000296411.6		NA																	0				endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17						c.(1150-1152)tCt>tTt		methionyl aminopeptidase 1							108.0	111.0	110.0					4																	99982458		1913	4128	6041	SO:0001583	missense	23173				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis|regulation of translation	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity|protein binding	g.chr4:99982458C>T	D42084	CCDS47110.1	4q23	2010-08-20			ENSG00000164024	ENSG00000164024	3.4.11.18		15789	protein-coding gene	gene with protein product	"""Peptidase M"""	610151				7788527, 12144506	Standard	NM_015143		Approved	KIAA0094, MetAP1A, MAP1A	uc003huf.4	P53582	OTTHUMG00000161231	ENST00000296411.6:c.1151C>T	4.37:g.99982458C>T	ENSP00000296411:p.Ser384Phe	False	False		Somatic	0				METAP1_ENST00000544031.1_Missense_Mutation_p.S334F	p.S384F	NM_015143.2	NP_055958.2	WXS	Illumina HiSeq	Phase_I	P53582	AMPM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.12e-07)	11	1285	+			384					B4E2E6	Missense_Mutation	SNP	ENST00000296411.6	37	c.1151C>T	CCDS47110.1	.	.	.	.	.	.	.	.	.	.	C	13.34	2.208029	0.39003	.	.	ENSG00000164024	ENST00000296411;ENST00000544031;ENST00000510133;ENST00000514051	.	.	.	4.96	4.96	0.65561	.	0.167404	0.53938	D	0.000059	T	0.55609	0.1931	L	0.46157	1.445	0.58432	D	0.999998	B	0.28378	0.209	B	0.22880	0.042	T	0.52335	-0.8589	8	.	.	.	-12.7309	18.3944	0.90493	0.0:1.0:0.0:0.0	.	384	P53582	AMPM1_HUMAN	F	384;334;168;114	.	.	S	+	2	0	METAP1	100201481	1.000000	0.71417	1.000000	0.80357	0.771000	0.43674	3.563000	0.53784	2.561000	0.86390	0.655000	0.94253	TCT		0.458	METAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364237.1	0	NM_015143		4:99982458
PSME4	23198	broad.mit.edu	37	2	54093911	54093911	+	Silent	SNP	T	T	C			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:54093911T>C	ENST00000404125.1	-	45	5425	c.5370A>G	c.(5368-5370)gcA>gcG	p.A1790A	PSME4_ENST00000421748.2_Silent_p.A934A|PSME4_ENST00000476586.1_5'UTR	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1790					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CATTTAGATGTGCACTGAGAT	0.423																																						ENST00000404125.1		NA																	0				breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60						c.(5368-5370)gcA>gcG		proteasome (prosome, macropain) activator subunit 4							120.0	101.0	107.0					2																	54093911		2203	4300	6503	SO:0001819	synonymous_variant	23198				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	g.chr2:54093911T>C	D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.5370A>G	2.37:g.54093911T>C		False	False		Somatic	0				PSME4_ENST00000421748.2_Silent_p.A934A|PSME4_ENST00000476586.1_5'UTR	p.A1790A	NM_014614.2	NP_055429.2	WXS	Illumina HiSeq	Phase_I	Q14997	PSME4_HUMAN	Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)		45	5425	-			1790					Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Silent	SNP	ENST00000404125.1	37	c.5370A>G	CCDS33197.2																																																																																				0.423	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	0	XM_040158		2:54093911
ECD	11319	broad.mit.edu	37	10	74912158	74912158	+	Missense_Mutation	SNP	A	A	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr10:74912158A>G	ENST00000372979.4	-	7	1011	c.805T>C	c.(805-807)Tat>Cat	p.Y269H	ECD_ENST00000454759.2_Intron|ECD_ENST00000430082.2_Missense_Mutation_p.Y269H	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	269					cell proliferation (GO:0008283)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of glycolytic process (GO:0006110)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					AATTGTGCATATAGACATTTA	0.433																																						ENST00000372979.4		NA																	0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(805-807)Tat>Cat		ecdysoneless homolog (Drosophila)							88.0	81.0	84.0					10																	74912158		2203	4300	6503	SO:0001583	missense	11319				regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity	g.chr10:74912158A>G	BC000721	CCDS7321.1, CCDS44433.1, CCDS44434.1	10q22.3	2006-02-07				ENSG00000122882			17029	protein-coding gene	gene with protein product						9928932, 15128659	Standard	NM_007265		Approved	hSGT1, GCR2	uc001jtn.3	O95905		ENST00000372979.4:c.805T>C	10.37:g.74912158A>G	ENSP00000362070:p.Tyr269His	False	False		Somatic	0				ECD_ENST00000430082.2_Missense_Mutation_p.Y269H|ECD_ENST00000454759.2_Intron	p.Y269H	NM_007265.2	NP_009196.1	WXS	Illumina HiSeq	Phase_I	O95905	SGT1_HUMAN			7	1011	-	Prostate(51;0.0119)		269					C9JX46|E9PAW8	Missense_Mutation	SNP	ENST00000372979.4	37	c.805T>C	CCDS7321.1	.	.	.	.	.	.	.	.	.	.	A	27.6	4.845475	0.91197	.	.	ENSG00000122882	ENST00000372979;ENST00000430082;ENST00000453402	T;T;T	0.43688	0.94;0.94;0.94	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.72293	0.3442	M	0.92649	3.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.79636	-0.1721	10	0.87932	D	0	-18.1447	14.2899	0.66270	1.0:0.0:0.0:0.0	.	269;269	C9JX46;O95905	.;SGT1_HUMAN	H	269;269;195	ENSP00000362070:Y269H;ENSP00000401566:Y269H;ENSP00000391367:Y195H	ENSP00000362070:Y269H	Y	-	1	0	ECD	74582164	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.234000	0.95347	2.255000	0.74692	0.533000	0.62120	TAT		0.433	ECD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048606.1	0	NM_007265		10:74912158
LRRC4	64101	broad.mit.edu	37	7	127668984	127668984	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr7:127668984C>T	ENST00000249363.3	-	2	1967	c.1710G>A	c.(1708-1710)caG>caA	p.Q570Q	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	570					postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CTTCGTCCACCTGGATTATCT	0.562																																						ENST00000249363.3		NA																	0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26						c.(1708-1710)caG>caA		leucine rich repeat containing 4							87.0	69.0	75.0					7																	127668984		2203	4300	6503	SO:0001819	synonymous_variant	64101					cell junction|integral to membrane|postsynaptic membrane		g.chr7:127668984C>T	AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.1710G>A	7.37:g.127668984C>T		False	False		Somatic	0				SND1_ENST00000354725.3_Intron	p.Q570Q	NM_022143.4	NP_071426.1	WXS	Illumina HiSeq	Phase_I	Q9HBW1	LRRC4_HUMAN		Lung(243;0.124)	2	1967	-			570					A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Silent	SNP	ENST00000249363.3	37	c.1710G>A	CCDS5799.1																																																																																				0.562	LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	0	NM_022143		7:127668984
CORO1B	57175	broad.mit.edu	37	11	67209273	67209273	+	Missense_Mutation	SNP	C	C	G			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:67209273C>G	ENST00000341356.5	-	4	495	c.385G>C	c.(385-387)Gag>Cag	p.E129Q	CORO1B_ENST00000539724.1_5'Flank|CORO1B_ENST00000453768.2_Missense_Mutation_p.E129Q|CORO1B_ENST00000393893.1_Missense_Mutation_p.E129Q|CORO1B_ENST00000545016.1_Missense_Mutation_p.E129Q	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	129					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GTGTGCCCCTCCAGTACCACC	0.667																																						ENST00000393893.1		NA																	0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13						c.(385-387)Gag>Cag		coronin, actin binding protein, 1B							68.0	53.0	58.0					11																	67209273		2200	4295	6495	SO:0001583	missense	57175				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	g.chr11:67209273C>G	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.385G>C	11.37:g.67209273C>G	ENSP00000340211:p.Glu129Gln	False	False		Somatic	0				CORO1B_ENST00000453768.2_Missense_Mutation_p.E129Q|CORO1B_ENST00000341356.5_Missense_Mutation_p.E129Q|CORO1B_ENST00000545016.1_Missense_Mutation_p.E129Q	p.E129Q	NM_001018070.2	NP_001018080.1	WXS	Illumina HiSeq	Phase_I	Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		5	488	-			129					B2RD45	Missense_Mutation	SNP	ENST00000341356.5	37	c.385G>C	CCDS8164.1	.	.	.	.	.	.	.	.	.	.	C	13.02	2.110965	0.37242	.	.	ENSG00000172725	ENST00000393893;ENST00000341356;ENST00000393886;ENST00000453768;ENST00000545016	T;T;T;T	0.60548	0.18;0.18;0.18;0.18	4.6	3.66	0.41972	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.38548	N	0.001648	T	0.38214	0.1032	N	0.12569	0.235	0.49582	D	0.9998	B;B;B	0.28933	0.03;0.054;0.228	B;B;B	0.30782	0.032;0.027;0.12	T	0.13098	-1.0522	10	0.15952	T	0.53	-30.956	14.16	0.65441	0.0:0.8485:0.1515:0.0	.	129;129;129	E7EW44;F5H0D2;Q9BR76	.;.;COR1B_HUMAN	Q	129;129;156;129;129	ENSP00000377471:E129Q;ENSP00000340211:E129Q;ENSP00000416006:E129Q;ENSP00000438056:E129Q	ENSP00000340211:E129Q	E	-	1	0	CORO1B	66965849	1.000000	0.71417	0.778000	0.31720	0.027000	0.11550	5.697000	0.68295	1.094000	0.41399	0.563000	0.77884	GAG		0.667	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	0	NM_020441		11:67209273
SLC10A6	345274	broad.mit.edu	37	4	87744851	87744851	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:87744851G>A	ENST00000273905.6	-	6	1271	c.1124C>T	c.(1123-1125)tCa>tTa	p.S375L	SLC10A6_ENST00000505535.1_5'Flank	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	375					sodium-dependent organic anion transport (GO:0043251)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)|sodium-dependent organic anion transmembrane transporter activity (GO:0043250)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CTATTCACATGAAGTGATGTG	0.542																																						ENST00000273905.6		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9						c.(1123-1125)tCa>tTa		solute carrier family 10 (sodium/bile acid cotransporter), member 6							88.0	75.0	79.0					4																	87744851		2203	4300	6503	SO:0001583	missense	345274					integral to membrane|plasma membrane	bile acid:sodium symporter activity	g.chr4:87744851G>A	AJ583502	CCDS3614.1	4q22.1	2013-07-18	2013-07-18		ENSG00000145283	ENSG00000145283		"""Solute carriers"""	30603	protein-coding gene	gene with protein product		613366				15020217, 17491011	Standard	NM_197965		Approved	SOAT	uc003hqd.2	Q3KNW5	OTTHUMG00000130596	ENST00000273905.6:c.1124C>T	4.37:g.87744851G>A	ENSP00000273905:p.Ser375Leu	False	False		Somatic	0					p.S375L	NM_197965.2	NP_932069.1	WXS	Illumina HiSeq	Phase_I	Q3KNW5	SOAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00099)	6	1271	-		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)	375					Q70EX7	Missense_Mutation	SNP	ENST00000273905.6	37	c.1124C>T	CCDS3614.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.256182	0.39896	.	.	ENSG00000145283	ENST00000273905	T	0.09445	2.98	4.83	3.99	0.46301	.	.	.	.	.	T	0.10766	0.0263	L	0.44542	1.39	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.16988	-1.0384	9	0.49607	T	0.09	6.3961	8.9158	0.35581	0.0998:0.0:0.9002:0.0	.	375	Q3KNW5	SOAT_HUMAN	L	375	ENSP00000273905:S375L	ENSP00000273905:S375L	S	-	2	0	SLC10A6	87963875	0.814000	0.29104	0.014000	0.15608	0.095000	0.18619	2.377000	0.44300	1.278000	0.44430	-0.236000	0.12185	TCA		0.542	SLC10A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253043.2	0	NM_197965		4:87744851
OR5M8	219484	broad.mit.edu	37	11	56258789	56258789	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr11:56258789G>A	ENST00000327216.2	-	1	82	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	20						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(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TGTAATTCCCGGCGACTGGTC	0.478																																						ENST00000327216.2		NA																	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(58-60)Cgg>Tgg		olfactory receptor, family 5, subfamily M, member 8							79.0	84.0	82.0					11																	56258789		2201	4296	6497	SO:0001583	missense	219484				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56258789G>A	AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.58C>T	11.37:g.56258789G>A	ENSP00000323354:p.Arg20Trp	True	False		Somatic	0					p.R20W	NM_001005282.1	NP_001005282.1	WXS	Illumina HiSeq	Phase_I	Q8NGP6	OR5M8_HUMAN			1	82	-	Esophageal squamous(21;0.00352)		20					B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	ENST00000327216.2	37	c.58C>T	CCDS31533.1	.	.	.	.	.	.	.	.	.	.	G	9.701	1.154606	0.21371	.	.	ENSG00000181371	ENST00000327216	T	0.00012	9.32	4.13	-0.307	0.12777	.	1.292630	0.06259	U	0.693636	T	0.00073	0.0002	N	0.11023	0.085	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.14282	-1.0478	10	0.87932	D	0	0.1659	2.6013	0.04867	0.0964:0.1586:0.2929:0.4521	.	20	Q8NGP6	OR5M8_HUMAN	W	20	ENSP00000323354:R20W	ENSP00000323354:R20W	R	-	1	2	OR5M8	56015365	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.367000	0.20382	-0.005000	0.14395	-1.826000	0.00596	CGG		0.478	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391641.1	0	NM_001005282		11:56258789
EPHB2	2048	broad.mit.edu	37	1	23240039	23240039	+	Silent	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:23240039C>T	ENST00000400191.3	+	16	2955	c.2937C>T	c.(2935-2937)aaC>aaT	p.N979N	EPHB2_ENST00000374632.3_Silent_p.N980N|EPHB2_ENST00000374627.1_3'UTR|EPHB2_ENST00000374630.3_Silent_p.N979N	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	979					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CGCAGATGAACCAGATTCAGT	0.587																																						ENST00000400191.3		NA																	0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56						c.(2935-2937)aaC>aaT		EPH receptor B2							87.0	90.0	89.0					1																	23240039		2203	4300	6503	SO:0001819	synonymous_variant	2048				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity	g.chr1:23240039C>T	AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.2937C>T	1.37:g.23240039C>T		False	False		Somatic	0				EPHB2_ENST00000374630.3_Silent_p.N979N|EPHB2_ENST00000374627.1_3'UTR|EPHB2_ENST00000374632.3_Silent_p.N980N	p.N979N	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	WXS	Illumina HiSeq	Phase_I	P29323	EPHB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)	16	2955	+		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)	979					O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	ENST00000400191.3	37	c.2937C>T																																																																																					0.587	EPHB2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000008060.2	0	NM_017449		1:23240039
ESRRG	2104	broad.mit.edu	37	1	216737608	216737608	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr1:216737608G>A	ENST00000408911.3	-	5	968	c.815C>T	c.(814-816)gCc>gTc	p.A272V	ESRRG_ENST00000366938.2_Missense_Mutation_p.A249V|ESRRG_ENST00000493748.1_Missense_Mutation_p.A249V|ESRRG_ENST00000361525.3_Missense_Mutation_p.A249V|ESRRG_ENST00000463665.1_Missense_Mutation_p.A210V|ESRRG_ENST00000366940.2_Missense_Mutation_p.A249V|ESRRG_ENST00000359162.2_Missense_Mutation_p.A249V|ESRRG_ENST00000361395.2_Missense_Mutation_p.A249V|ESRRG_ENST00000487276.1_Missense_Mutation_p.A249V|ESRRG_ENST00000366937.1_Missense_Mutation_p.A284V|ESRRG_ENST00000360012.3_Missense_Mutation_p.A249V|ESRRG_ENST00000391890.3_Missense_Mutation_p.A256V|ESRRG_ENST00000493603.1_Missense_Mutation_p.A249V	NM_001438.3	NP_001429.2	P62508	ERR3_HUMAN	estrogen-related receptor gamma	272					gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	AF-2 domain binding (GO:0050682)|retinoic acid receptor activity (GO:0003708)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.A272V(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTCTCGGTCGGCCAAGTCACA	0.463																																						ENST00000391890.3		NA																	1	Substitution - Missense(1)	p.A272V(1)	lung(1)	endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49						c.(766-768)gCc>gTc		estrogen-related receptor gamma	Diethylstilbestrol(DB00255)						178.0	156.0	163.0					1																	216737608		2203	4300	6503	SO:0001583	missense	2104				positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr1:216737608G>A	AF058291	CCDS1517.1, CCDS41468.1, CCDS58060.1, CCDS58061.1	1q41	2014-02-18			ENSG00000196482	ENSG00000196482		"""Nuclear hormone receptors"""	3474	protein-coding gene	gene with protein product		602969				9676434, 10072763	Standard	NM_001243505		Approved	NR3B3	uc001hkw.2	P62508	OTTHUMG00000037025	ENST00000408911.3:c.815C>T	1.37:g.216737608G>A	ENSP00000386171:p.Ala272Val	True	False		Somatic	0				ESRRG_ENST00000359162.2_Missense_Mutation_p.A249V|ESRRG_ENST00000487276.1_Missense_Mutation_p.A249V|ESRRG_ENST00000366938.2_Missense_Mutation_p.A249V|ESRRG_ENST00000366937.1_Missense_Mutation_p.A284V|ESRRG_ENST00000493603.1_Missense_Mutation_p.A249V|ESRRG_ENST00000493748.1_Missense_Mutation_p.A249V|ESRRG_ENST00000360012.3_Missense_Mutation_p.A249V|ESRRG_ENST00000361525.3_Missense_Mutation_p.A249V|ESRRG_ENST00000408911.3_Missense_Mutation_p.A272V|ESRRG_ENST00000361395.2_Missense_Mutation_p.A249V|ESRRG_ENST00000463665.1_Missense_Mutation_p.A210V|ESRRG_ENST00000366940.2_Missense_Mutation_p.A249V	p.A256V	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	WXS	Illumina HiSeq	Phase_I	P62508	ERR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	7	1284	-			272					A8K4I0|A8K6I2|B3KY84|E9PGB7|F8W8J3|O75454|O96021|Q68DA0|Q6P274|Q6PK28|Q6TS38|Q9R1F3|Q9UNJ4	Missense_Mutation	SNP	ENST00000408911.3	37	c.767C>T	CCDS41468.1	.	.	.	.	.	.	.	.	.	.	G	16.02	3.003172	0.54254	.	.	ENSG00000196482	ENST00000361525;ENST00000366940;ENST00000366937;ENST00000408911;ENST00000359162;ENST00000361395;ENST00000366938;ENST00000360012;ENST00000493603;ENST00000391890;ENST00000463665;ENST00000487276;ENST00000354407;ENST00000493748;ENST00000475275	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13	5.56	4.65	0.58169	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	D	0.97648	0.9229	M	0.75085	2.285	0.80722	D	1	B;D;D	0.89917	0.322;1.0;0.999	B;D;D	0.68192	0.199;0.949;0.956	D	0.98206	1.0470	10	0.87932	D	0	.	14.6034	0.68460	0.0705:0.0:0.9295:0.0	.	210;284;272	E9PGB7;F8W8J3;P62508	.;.;ERR3_HUMAN	V	249;249;284;272;249;249;249;249;249;256;210;249;249;249;249	ENSP00000355225:A249V;ENSP00000355907:A249V;ENSP00000355904:A284V;ENSP00000386171:A272V;ENSP00000352077:A249V;ENSP00000354584:A249V;ENSP00000355905:A249V;ENSP00000353108:A249V;ENSP00000419594:A249V;ENSP00000375761:A256V;ENSP00000418629:A210V;ENSP00000419155:A249V;ENSP00000417374:A249V;ENSP00000419514:A249V	ENSP00000346386:A249V	A	-	2	0	ESRRG	214804231	1.000000	0.71417	0.812000	0.32479	0.762000	0.43233	9.869000	0.99810	1.339000	0.45563	0.655000	0.94253	GCC		0.463	ESRRG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089882.2	0	NM_206595		1:216737608
KCNQ5	56479	broad.mit.edu	37	6	73830223	73830223	+	Silent	SNP	C	C	T	rs144427126		TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr6:73830223C>T	ENST00000370398.1	+	8	1252	c.1143C>T	c.(1141-1143)taC>taT	p.Y381Y	KCNQ5_ENST00000402622.2_Silent_p.Y381Y|KCNQ5_ENST00000355635.3_Silent_p.Y381Y|KCNQ5_ENST00000414165.2_Silent_p.Y381Y|KCNQ5_ENST00000403813.2_Silent_p.Y381Y|KCNQ5_ENST00000342056.2_Silent_p.Y381Y|KCNQ5_ENST00000355194.4_Silent_p.Y381Y|KCNQ5_ENST00000370392.1_Silent_p.Y381Y	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	381					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GGCGTAGTTACGCAGCTGATG	0.428																																					GBM(142;1375 1859 14391 23261 44706)	ENST00000342056.2		NA																	0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.(1141-1143)taC>taT		potassium voltage-gated channel, KQT-like subfamily, member 5		T	,,,,	0,4406		0,0,2203	91.0	73.0	79.0		1143,1143,1143,1143,1143	-2.7	1.0	6	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	KCNQ5	NM_001160130.1,NM_001160132.1,NM_001160133.1,NM_001160134.1,NM_019842.3	,,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,,	381/924,381/943,381/952,381/823,381/933	73830223	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73830223C>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1143C>T	6.37:g.73830223C>T		False	False		Somatic	0				KCNQ5_ENST00000402622.2_Silent_p.Y381Y|KCNQ5_ENST00000355635.3_Silent_p.Y381Y|KCNQ5_ENST00000414165.2_Silent_p.Y381Y|KCNQ5_ENST00000355194.4_Silent_p.Y381Y|KCNQ5_ENST00000370392.1_Silent_p.Y381Y|KCNQ5_ENST00000403813.2_Silent_p.Y381Y|KCNQ5_ENST00000370398.1_Silent_p.Y381Y	p.Y381Y	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	WXS	Illumina HiSeq	Phase_I	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	8	1541	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	381					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Silent	SNP	ENST00000370398.1	37	c.1143C>T	CCDS4976.1																																																																																				0.428	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	0	NM_019842		6:73830223
PDLIM5	10611	broad.mit.edu	37	4	95444888	95444888	+	Missense_Mutation	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr4:95444888G>A	ENST00000317968.4	+	3	246	c.110G>A	c.(109-111)gGc>gAc	p.G37D	PDLIM5_ENST00000318007.5_Missense_Mutation_p.G37D|PDLIM5_ENST00000538141.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000514743.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000508216.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000450793.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000437932.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000542407.1_Intron|PDLIM5_ENST00000380180.3_Missense_Mutation_p.G37D	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	37	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		AAAGATGGCGGCAAGGCAGCC	0.348																																						ENST00000317968.4		NA																	0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22						c.(109-111)gGc>gAc		PDZ and LIM domain 5							84.0	80.0	81.0					4																	95444888		2203	4300	6503	SO:0001583	missense	10611				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding	g.chr4:95444888G>A	AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.110G>A	4.37:g.95444888G>A	ENSP00000321746:p.Gly37Asp	False	False		Somatic	0				PDLIM5_ENST00000437932.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000508216.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000380180.3_Missense_Mutation_p.G37D|PDLIM5_ENST00000318007.5_Missense_Mutation_p.G37D|PDLIM5_ENST00000538141.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000450793.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000514743.1_Missense_Mutation_p.G37D|PDLIM5_ENST00000542407.1_Intron	p.G37D	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	WXS	Illumina HiSeq	Phase_I	Q96HC4	PDLI5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)	3	246	+		Hepatocellular(203;0.114)	37			PDZ.		A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	ENST00000317968.4	37	c.110G>A	CCDS3641.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.9|28.9	4.962750|4.962750	0.92791|0.92791	.|.	.|.	ENSG00000163110|ENSG00000163110	ENST00000513341|ENST00000437932;ENST00000380180;ENST00000318007;ENST00000450793;ENST00000538141;ENST00000317968;ENST00000503974;ENST00000508216;ENST00000514743	.|T;T;T;T;T;T;T;T;T	.|0.53206	.|0.63;0.63;0.63;1.8;1.8;0.63;0.63;0.63;0.63	5.96|5.96	5.96|5.96	0.96718|0.96718	.|PDZ/DHR/GLGF (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.79902|0.79902	0.4526|0.4526	H|H	0.95470|0.95470	3.675|3.675	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;0.999;1.0;0.991	.|D;D;D;D;D;D	.|0.97110	.|0.996;1.0;0.998;0.991;0.999;0.982	D|D	0.84745|0.84745	0.0753|0.0753	5|10	.|0.72032	.|D	.|0.01	.|.	20.0147|20.0147	0.97475|0.97475	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|37;37;37;37;37;37	.|E9PBF5;D6RB78;Q96HC4;Q96HC4-4;Q96HC4-2;Q96HC4-3	.|.;.;PDLI5_HUMAN;.;.;.	T|D	5|37	.|ENSP00000398469:G37D;ENSP00000369527:G37D;ENSP00000322021:G37D;ENSP00000401579:G37D;ENSP00000439795:G37D;ENSP00000321746:G37D;ENSP00000424297:G37D;ENSP00000426804:G37D;ENSP00000424360:G37D	.|ENSP00000321746:G37D	A|G	+|+	1|2	0|0	PDLIM5|PDLIM5	95663911|95663911	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.982000|0.982000	0.71751|0.71751	9.143000|9.143000	0.94623|0.94623	2.823000|2.823000	0.97156|0.97156	0.650000|0.650000	0.86243|0.86243	GCA|GGC		0.348	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253586.1	0			4:95444888
ZNF761	388561	broad.mit.edu	37	19	53960395	53960395	+	RNA	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr19:53960395G>A	ENST00000454407.1	+	0	3087							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GCAATCCATGGTGTAGGGAAA	0.413																																						ENST00000454407.1		NA																	0				endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30								zinc finger protein 761																																						388561				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53960395G>A	AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53960395G>A		False	False		Somatic	0								WXS	Illumina HiSeq	Phase_I	Q86XN6	ZN761_HUMAN		GBM - Glioblastoma multiforme(134;0.00786)	0	3087	+			NA					Q6ZNB9	RNA	SNP	ENST00000454407.1	37																																																																																						0.413	ZNF761-203	KNOWN	basic	processed_transcript	processed_transcript		0	NM_001008401		19:53960395
LRP1B	53353	broad.mit.edu	37	2	141243054	141243054	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:141243054C>T	ENST00000389484.3	-	59	10254	c.9283G>A	c.(9283-9285)Gat>Aat	p.D3095N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3095					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCAATCCAATCGACAGCAAGT	0.373										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3		NA																	0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(9283-9285)Gat>Aat		low density lipoprotein receptor-related protein 1B							128.0	119.0	122.0					2																	141243054		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141243054C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9283G>A	2.37:g.141243054C>T	ENSP00000374135:p.Asp3095Asn	True	False	TSP Lung(27;0.18)	Somatic	0					p.D3095N	NM_018557.2	NP_061027.2	WXS	Illumina HiSeq	Phase_I	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	59	10254	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3095					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.9283G>A	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	36	5.839800	0.97009	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.98876	-5.2	5.43	5.43	0.79202	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.000000	0.85682	D	0.000000	D	0.99324	0.9763	M	0.90369	3.11	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.99146	1.0857	10	0.87932	D	0	.	19.5951	0.95533	0.0:1.0:0.0:0.0	.	3095	Q9NZR2	LRP1B_HUMAN	N	3095;3033	ENSP00000374135:D3095N	ENSP00000374135:D3095N	D	-	1	0	LRP1B	140959524	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	7.501000	0.81600	2.693000	0.91896	0.650000	0.86243	GAT		0.373	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	0	NM_018557		2:141243054
BOC	91653	broad.mit.edu	37	3	113005548	113005548	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:113005548C>T	ENST00000495514.1	+	20	3888	c.3184C>T	c.(3184-3186)Cca>Tca	p.P1062S	BOC_ENST00000273395.4_Missense_Mutation_p.P1063S|BOC_ENST00000355385.3_Missense_Mutation_p.P1062S			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	1062					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			GGGCCTTGTGCCAGTTGAAGA	0.577																																						ENST00000495514.1		NA																	0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(3184-3186)Cca>Tca		BOC cell adhesion associated, oncogene regulated							167.0	180.0	176.0					3																	113005548		2203	4300	6503	SO:0001583	missense	91653				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	g.chr3:113005548C>T	AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.3184C>T	3.37:g.113005548C>T	ENSP00000418663:p.Pro1062Ser	False	False		Somatic	0				BOC_ENST00000273395.4_Missense_Mutation_p.P1063S|BOC_ENST00000355385.3_Missense_Mutation_p.P1062S	p.P1062S			WXS	Illumina HiSeq	Phase_I	Q9BWV1	BOC_HUMAN	Epithelial(53;0.227)		20	3888	+			1062					A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	ENST00000495514.1	37	c.3184C>T	CCDS2971.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.640112	0.87760	.	.	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385;ENST00000473008	T;T;T	0.72615	-0.67;-0.66;-0.67	6.04	6.04	0.98038	.	0.000000	0.64402	D	0.000001	T	0.78534	0.4298	L	0.32530	0.975	0.52501	D	0.999953	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.76545	-0.2920	10	0.42905	T	0.14	.	18.7597	0.91845	0.0:1.0:0.0:0.0	.	879;1063;1062	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	S	1062;1063;1062;38	ENSP00000418663:P1062S;ENSP00000273395:P1063S;ENSP00000347546:P1062S	ENSP00000273395:P1063S	P	+	1	0	BOC	114488238	0.996000	0.38824	0.571000	0.28486	0.991000	0.79684	5.038000	0.64177	2.873000	0.98535	0.561000	0.74099	CCA		0.577	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000354485.3	0	NM_033254		3:113005548
PTBP3	9991	broad.mit.edu	37	9	114990659	114990659	+	Splice_Site	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr9:114990659C>T	ENST00000374255.2	-	12	1379		c.e12+1		PTBP3_ENST00000343327.2_Splice_Site|PTBP3_ENST00000374257.1_Splice_Site|PTBP3_ENST00000334318.6_Splice_Site|PTBP3_ENST00000458258.1_Splice_Site			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3						anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										atCATTAGTACCTAGCTGAGC	0.323																																						ENST00000334318.6		NA																	0					NA						c.e12+1		polypyrimidine tract binding protein 3							80.0	76.0	77.0					9																	114990659		2203	4300	6503	SO:0001630	splice_region_variant	9991				anatomical structure morphogenesis|mRNA processing	nucleus	nucleotide binding|RNA binding	g.chr9:114990659C>T	AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"""RNA binding motif (RRM) containing"""	10253	protein-coding gene	gene with protein product		607527	"""regulator of differentiation (in S. pombe) 1"", ""ROD1 regulator of differentiation 1 (S. pombe)"""	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.1231+1G>A	9.37:g.114990659C>T		False	False		Somatic	0				PTBP3_ENST00000374255.2_Splice_Site|PTBP3_ENST00000458258.1_Splice_Site|PTBP3_ENST00000343327.2_Splice_Site|PTBP3_ENST00000374257.1_Splice_Site		NM_001163790.2|NM_005156.6	NP_001157262.1|NP_005147.3	WXS	Illumina HiSeq	Phase_I	O95758	ROD1_HUMAN			12	1427	-			NA					B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Splice_Site	SNP	ENST00000374255.2	37		CCDS6784.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.652319	0.88056	.	.	ENSG00000119314	ENST00000374257;ENST00000334318;ENST00000458258;ENST00000374255;ENST00000343327	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4289	0.94756	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ROD1	114030480	1.000000	0.71417	0.997000	0.53966	0.934000	0.57294	7.339000	0.79282	2.770000	0.95276	0.655000	0.94253	.		0.323	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000053679.1	0		Intron	9:114990659
RPSA	3921	broad.mit.edu	37	3	39453425	39453425	+	Silent	SNP	G	G	A			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr3:39453425G>A	ENST00000301821.6	+	6	775	c.666G>A	c.(664-666)gtG>gtA	p.V222V	RPSA_ENST00000478027.1_3'UTR|RPSA_ENST00000443003.1_Silent_p.V227V|SNORA62_ENST00000365493.1_RNA	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2			ribosomal protein SA											endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		AGAAGGCAGTGACCAAGGAGG	0.488																																						ENST00000301821.6		NA																	0				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(664-666)gtG>gtA		ribosomal protein SA							58.0	62.0	60.0					3																	39453425		2203	4299	6502	SO:0001819	synonymous_variant	3921				cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome	g.chr3:39453425G>A	S37431	CCDS2686.1	3p21.3	2014-09-17	2002-08-29	2005-02-11	ENSG00000168028	ENSG00000168028			6502	protein-coding gene	gene with protein product		150370	"""laminin receptor 1 (67kD, ribosomal protein SA)"""	LAMR1		1534510, 8760291	Standard	NM_001012321		Approved	LRP, 37LRP, p40, SA	uc003cjp.3	P08865	OTTHUMG00000131296	ENST00000301821.6:c.666G>A	3.37:g.39453425G>A		False	False		Somatic	0				RPSA_ENST00000443003.1_Silent_p.V227V|RPSA_ENST00000478027.1_3'UTR	p.V222V	NM_001012321.1|NM_002295.4	NP_001012321.1|NP_002286.2	WXS	Illumina HiSeq	Phase_I	P08865	RSSA_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)	6	775	+			222			Laminin-binding.			Silent	SNP	ENST00000301821.6	37	c.666G>A	CCDS2686.1																																																																																				0.488	RPSA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254064.3	0	NM_002295		3:39453425
ANKRD44	91526	broad.mit.edu	37	2	197943459	197943459	+	Missense_Mutation	SNP	C	C	T			TCGA-HZ-A8P1-01A-11D-A377-08	TCGA-HZ-A8P1-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	708f85de-7ece-450d-be82-0c16eb93fdf4	2e7a6f01-1b28-4afc-9792-f581b59f84cc	g.chr2:197943459C>T	ENST00000328737.2	-	16	1619	c.1543G>A	c.(1543-1545)Gcc>Acc	p.A515T	ANKRD44_ENST00000282272.8_Missense_Mutation_p.A532T|ANKRD44_ENST00000409153.1_Missense_Mutation_p.A540T|ANKRD44_ENST00000450567.1_Missense_Mutation_p.A515T|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A515T|ANKRD44_ENST00000539527.1_Missense_Mutation_p.A468T|ANKRD44_ENST00000477852.1_5'Flank			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	540										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCATAGGCGGCAGCATAATGT	0.408																																						ENST00000328737.2		NA																	0				NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45						c.(1543-1545)Gcc>Acc		ankyrin repeat domain 44							109.0	92.0	98.0					2																	197943459		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197943459C>T	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1543G>A	2.37:g.197943459C>T	ENSP00000331516:p.Ala515Thr	False	False		Somatic	0				ANKRD44_ENST00000539527.1_Missense_Mutation_p.A468T|ANKRD44_ENST00000282272.8_Missense_Mutation_p.A532T|ANKRD44_ENST00000337207.5_Missense_Mutation_p.A515T|ANKRD44_ENST00000450567.1_Missense_Mutation_p.A515T|ANKRD44_ENST00000409153.1_Missense_Mutation_p.A540T	p.A515T			WXS	Illumina HiSeq	Phase_I	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		16	1619	-			540					Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.1543G>A		.	.	.	.	.	.	.	.	.	.	C	26.3	4.725981	0.89298	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886;ENST00000409153;ENST00000539527	T;T;T;T;T;T;T;T	0.72942	-0.37;-0.33;-0.37;-0.37;-0.33;-0.37;-0.37;-0.7	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.85526	0.5717	M	0.80183	2.485	0.52501	D	0.999952	D;D;D	0.76494	0.979;0.998;0.999	D;D;D	0.85130	0.923;0.997;0.997	D	0.86497	0.1801	10	0.72032	D	0.01	.	19.3941	0.94598	0.0:1.0:0.0:0.0	.	468;540;558	F5H682;Q8N8A2-3;Q8N8A2-2	.;.;.	T	355;532;515;515;515;215;540;468	ENSP00000403415:A355T;ENSP00000282272:A532T;ENSP00000331516:A515T;ENSP00000402420:A515T;ENSP00000338794:A515T;ENSP00000416319:A215T;ENSP00000387141:A540T;ENSP00000437825:A468T	ENSP00000282272:A532T	A	-	1	0	ANKRD44	197651704	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.685000	0.54678	2.885000	0.99019	0.655000	0.94253	GCC		0.408	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1	0	NM_153697		2:197943459
