#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
TAS2R43	259289	broad.mit.edu	37	12	11244067	11244068	+	Frame_Shift_Ins	INS	-	-	TT	rs201300744	byFrequency	TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr12:11244067_11244068insTT	ENST00000531678.1	-	1	844_845	c.761_762insAA	c.(760-762)agtfs	p.S254fs	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176884.2	NP_795365.2	P59537	T2R43_HUMAN	taste receptor, type 2, member 43	254					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TGTTTTCCAGACTTCCAAAACT	0.396																																						ENST00000531678.1		NA																	0				endometrium(1)|ovary(1)|prostate(2)|urinary_tract(1)	5						c.(760-762)agtfs		taste receptor, type 2, member 43																																				SO:0001589	frameshift_variant	259289				detection of chemical stimulus involved in sensory perception of bitter taste	cilium membrane|motile cilium	bitter taste receptor activity	g.chr12:11244067_11244068insTT	AF494237	CCDS53749.1	12p13.2	2012-08-22				ENSG00000255374		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18875	protein-coding gene	gene with protein product		612668				12379855	Standard	NM_176884		Approved	T2R52	uc001qzq.1	P59537		ENST00000531678.1:c.761_762insAA	12.37:g.11244067_11244068insTT	ENSP00000431719:p.Ser254fs	False	False		Somatic	0				TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	p.S254fs	NM_176884.2	NP_795365.2	WXS	Illumina HiSeq	Phase_I	P59537	T2R43_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)	1	844_845	-			254					P59546|Q645X4	Frame_Shift_Ins	INS	ENST00000531678.1	37	c.761_762insAA	CCDS53749.1																																																																																				0.396	TAS2R43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383561.1	0	NM_176884		12:11244067
NBPF15	284565	broad.mit.edu	37	1	148753330	148753330	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr1:148753330delT	ENST00000417839.1	+	12	1537	c.1347delT	c.(1345-1347)gatfs	p.D449fs		NM_001102663.1	NP_001096133	Q5SXJ2	NBPFG_HUMAN		449	NBPF 4. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4	all_hematologic(923;0.032)					CTCCTTCAGATTATCTTGAAC	0.493																																						ENST00000417839.1		NA																	0				breast(1)|large_intestine(1)|lung(1)|pancreas(1)	4						c.(1345-1347)gatfs		neuroblastoma breakpoint family, member 16							1.0	1.0	1.0					1																	148753330		531	579	1110	SO:0001589	frameshift_variant	728936							g.chr1:148753330delT																												ENST00000417839.1:c.1347delT	1.37:g.148753330delT	ENSP00000395369:p.Asp449fs	False	False		Somatic	2					p.D449fs	NM_001102663.1	NP_001096133.1	WXS	Illumina HiSeq	Phase_I					12	1537	+	all_hematologic(923;0.032)		NA					A8MPT6	Frame_Shift_Del	DEL	ENST00000417839.1	37	c.1347delT	CCDS41384.1																																																																																				0.493	NBPF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097693.1	0			1:148753330
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs188756601|rs61812671|rs544324398|rs142857579|rs61812672|rs200927371|rs369853646|rs575236034	byFrequency	TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization (GO:0031424)			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661																																						ENST00000368779.1		NA																	3	Deletion - In frame(2)|Substitution - coding silent(1)	p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)	liver(2)|large_intestine(1)	breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc		late cornified envelope 2A																																				SO:0001651	inframe_deletion	353139				keratinization			g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	1.37:g.152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENSP00000357768:p.Ser47_Cys60del	False	False		Somatic	1					p.SSGGCCGSSSGGCC47del	NM_178428.3	NP_848515.1	WXS	Illumina HiSeq	Phase_I	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	189_230	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		47			Cys-rich.		A4QMZ9	In_Frame_Del	DEL	ENST00000368779.1	37	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CCDS1021.1																																																																																				0.661	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	0	NM_178428		1:152671515
TNRC6C	57690	broad.mit.edu	37	17	76083021	76083023	+	In_Frame_Del	DEL	CCG	CCG	-	rs190558790|rs34543719	byFrequency	TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	CCG	CCG	-	-	CCG	CCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr17:76083021_76083023delCCG	ENST00000588061.1	+	15	4376_4378	c.3649_3651delCCG	c.(3649-3651)ccgdel	p.P1222del	TNRC6C_ENST00000544502.1_In_Frame_Del_p.P1219del|TNRC6C_ENST00000588847.1_In_Frame_Del_p.P1219del|TNRC6C_ENST00000541771.1_In_Frame_Del_p.P1222del|TNRC6C_ENST00000335749.4_In_Frame_Del_p.P1219del|TNRC6C_ENST00000301624.4_In_Frame_Del_p.P1222del			Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1222	Pro-rich.				embryonic hemopoiesis (GO:0035162)|endoderm formation (GO:0001706)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of gene silencing by miRNA (GO:0060964)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GCAGCCACCACCGCCACCGCCCC	0.67																																						ENST00000588847.1		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40						c.(3640-3642)ccgdel		trinucleotide repeat containing 6C																																				SO:0001651	inframe_deletion	57690				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding	g.chr17:76083021_76083023delCCG	AL834429	CCDS45798.1, CCDS45799.1	17q25.3	2012-10-04			ENSG00000078687	ENSG00000078687		"""Trinucleotide (CAG) repeat containing"""	29318	protein-coding gene	gene with protein product		610741					Standard	NM_018996		Approved	KIAA1582, FLJ20015	uc002juf.2	Q9HCJ0	OTTHUMG00000132642	ENST00000588061.1:c.3649_3651delCCG	17.37:g.76083021_76083023delCCG	ENSP00000468647:p.Pro1222del	True	False		Somatic	1				TNRC6C_ENST00000588061.1_In_Frame_Del_p.P1222del|TNRC6C_ENST00000335749.4_In_Frame_Del_p.P1219del|TNRC6C_ENST00000541771.1_In_Frame_Del_p.P1222del|TNRC6C_ENST00000301624.4_In_Frame_Del_p.P1222del|TNRC6C_ENST00000544502.1_In_Frame_Del_p.P1219del	p.P1219del			WXS	Illumina HiSeq	Phase_I	Q9HCJ0	TNR6C_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		15	4367_4369	+			1222			Pro-rich.		G3XAB8|Q86UE5|Q8N3D8|Q96MU9	In_Frame_Del	DEL	ENST00000588061.1	37	c.3640_3642delCCG	CCDS45798.1																																																																																				0.670	TNRC6C-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000395947.1	0	NM_018996		17:76083021
ESPNP	284729	broad.mit.edu	37	1	17029302	17029364	+	RNA	DEL	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	-	rs544457949		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	-	-	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	GGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr1:17029302_17029364delGGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	ENST00000492551.1	-	0	1001_1063					NR_026567.1				espin pseudogene																		TGGGTAGCTAggtgggggtgggggcagttgggtgcctgggggcgggggtggcggggggaagctgggtgggggtggtgggggta	0.627																																						ENST00000492551.1		NA																	0					NA																																														0							g.chr1:17029302_17029364delGGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17029302_17029364delGGTGGGGGTGGGGGCAGTTGGGTGCCTGGGGGCGGGGGTGGCGGGGGGAAGCTGGGTGGGGGT		True	False		Somatic	1						NR_026567.1		WXS	Illumina HiSeq	Phase_I					0	1001_1063	-			NA						RNA	DEL	ENST00000492551.1	37																																																																																						0.627	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1	0			1:17029302
GIGYF2	26058	broad.mit.edu	37	2	233708804	233708806	+	In_Frame_Del	DEL	CAA	CAA	-	rs3816334	byFrequency	TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	CAA	CAA	-	-	CAA	CAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:233708804_233708806delCAA	ENST00000409547.1	+	26	3249_3251	c.2938_2940delCAA	c.(2938-2940)caadel	p.Q984del	GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q978del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q984del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.T823del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1005del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1006del	NM_015575.3	NP_056390.2	Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	984	Gln-rich.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|feeding behavior (GO:0007631)|homeostasis of number of cells within a tissue (GO:0048873)|insulin-like growth factor receptor signaling pathway (GO:0048009)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|musculoskeletal movement (GO:0050881)|negative regulation of translation (GO:0017148)|neuromuscular process controlling balance (GO:0050885)|post-embryonic development (GO:0009791)|spinal cord motor neuron differentiation (GO:0021522)	membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		gcagcagcagcaacagcaacagc	0.483																																						ENST00000409547.1		NA																	0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63						c.(2938-2940)caadel		GRB10 interacting GYF protein 2																																				SO:0001651	inframe_deletion	26058				cell death		protein binding	g.chr2:233708804_233708806delCAA	U80751	CCDS33401.1, CCDS46542.1, CCDS46543.1	2q37.1	2011-07-06	2008-02-11	2008-02-11	ENSG00000204120	ENSG00000204120		"""Trinucleotide (CAG) repeat containing"""	11960	protein-coding gene	gene with protein product	"""GYF domain containing 2"""	612003	"""PERQ amino acid rich, with GYF domain 2"", ""PERQ amino acid rich, with GYF domain 3"", ""trinucleotide repeat containing 15"", ""Parkinson disease (autosomal recessive, early onset) 11"""	PERQ2, PERQ3, TNRC15, PARK11		9225980, 9734811, 12771153, 18358451, 19279319	Standard	NM_015575		Approved	KIAA0642, GYF2	uc002vtk.4	Q6Y7W6	OTTHUMG00000153237	ENST00000409547.1:c.2938_2940delCAA	2.37:g.233708804_233708806delCAA	ENSP00000386537:p.Gln984del	True	False		Somatic	1				GIGYF2_ENST00000373563.4_In_Frame_Del_p.Q984del|GIGYF2_ENST00000452341.2_In_Frame_Del_p.T823del|GIGYF2_ENST00000373566.3_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000409480.1_In_Frame_Del_p.Q1006del|GIGYF2_ENST00000409451.3_In_Frame_Del_p.Q1005del|GIGYF2_ENST00000409196.3_In_Frame_Del_p.Q978del	p.Q984del	NM_015575.3	NP_056390.2	WXS	Illumina HiSeq	Phase_I	Q6Y7W6	PERQ2_HUMAN		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)	26	3249_3251	+		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	984			Gln-rich.		A6H8W4|B9EG55|E9PBB0|O75137|Q7Z2Z8|Q7Z3I2|Q96HU4|Q9NV82	In_Frame_Del	DEL	ENST00000409547.1	37	c.2938_2940delCAA	CCDS33401.1																																																																																				0.483	GIGYF2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000330316.2	0	NM_001103146		2:233708804
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						ENST00000260803.4		NA																	0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1621-1626)gacgat>gat		debranching RNA lariats 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del	False	False		Somatic	1				DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	p.541_542DD>D	NM_016216.3	NP_057300.2	WXS	Illumina HiSeq	Phase_I	Q9UK59	DBR1_HUMAN			8	1776_1778	-			541					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1	0			3:137880741
RBM47	54502	broad.mit.edu	37	4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	rs547575066|rs200374378|rs564837143|rs370564777|rs528269773	byFrequency	TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548														12	0.00239617	0.0038	0.0	5008	,	,		15547	0.001		0.003	False		,,,				2504	0.0031					ENST00000381793.2		NA																	0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(1483-1506)gcggccgcagccgccgcagccgct>gct		RNA binding motif protein 47			,	18,4178		0,18,2080					,	-8.6	0.0			47	62,8154		1,60,4047	no	coding,coding	RBM47	NM_019027.3,NM_001098634.1	,	1,78,6127	A1A1,A1R,RR		0.7546,0.429,0.6445	,	,		80,12332				SO:0001651	inframe_deletion	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	4.37:g.40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENSP00000371212:p.Ala495_Ala501del	True	False		Somatic	1				RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A	p.495_502AAAAAAAA>A			WXS	Illumina HiSeq	Phase_I	A0AV96	RBM47_HUMAN			5	1881_1901	-			495			Ala-rich.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	In_Frame_Del	DEL	ENST00000381793.2	37	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	CCDS43223.1																																																																																				0.548	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	0	NM_019027		4:40434705
AP3S1	1176	broad.mit.edu	37	5	115202418	115202421	+	Frame_Shift_Del	DEL	AAGA	AAGA	-	rs80118146		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	AAGA	AAGA	-	-	AAGA	AAGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr5:115202418_115202421delAAGA	ENST00000316788.7	+	2	678_681	c.121_124delAAGA	c.(121-126)aagagafs	p.KR41fs		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	41					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TTTGGTATCTAAGAGAGATGAAAA	0.304																																						ENST00000316788.7		NA																	0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12						c.(121-126)aagagafs		adaptor-related protein complex 3, sigma 1 subunit																																				SO:0001589	frameshift_variant	1176				insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity	g.chr5:115202418_115202421delAAGA	D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.121_124delAAGA	5.37:g.115202418_115202421delAAGA	ENSP00000325369:p.Lys41fs	True	False		Somatic	1					p.KR41fs	NM_001284.2	NP_001275.1	WXS	Illumina HiSeq	Phase_I	Q92572	AP3S1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)	2	678_681	+		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)	41					O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Frame_Shift_Del	DEL	ENST00000316788.7	37	c.121_124delAAGA	CCDS4123.1																																																																																				0.304	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250847.2	0			5:115202418
KIF4B	285643	broad.mit.edu	37	5	154395466	154395466	+	Frame_Shift_Del	DEL	C	C	-			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr5:154395466delC	ENST00000435029.4	+	1	2207	c.2047delC	c.(2047-2049)caafs	p.Q683fs		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	683	Interaction with PRC1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCGTAAGAGGCAATATGAGCT	0.423																																						ENST00000435029.4		NA																	0				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58						c.(2047-2049)caafs		kinesin family member 4B							125.0	128.0	127.0					5																	154395466		2203	4300	6503	SO:0001589	frameshift_variant	285643				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	g.chr5:154395466delC	AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.2047delC	5.37:g.154395466delC	ENSP00000387875:p.Gln683fs	False	False		Somatic	1					p.Q683fs	NM_001099293.1	NP_001092763.1	WXS	Illumina HiSeq	Phase_I	Q2VIQ3	KIF4B_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		1	2207	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	683			Interaction with PRC1 (By similarity).			Frame_Shift_Del	DEL	ENST00000435029.4	37	c.2047delC	CCDS47324.1																																																																																				0.423	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377478.1	0			5:154395466
RIOK1	83732	broad.mit.edu	37	6	7393450	7393452	+	In_Frame_Del	DEL	GAC	GAC	-	rs2274212|rs368069269	byFrequency	TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr6:7393450_7393452delGAC	ENST00000379834.2	+	2	697_699	c.190_192delGAC	c.(190-192)gacdel	p.D69del		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	69							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.D57G(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					ggagggttatgacgatgatgatg	0.433																																						ENST00000379834.2		NA																	1	Substitution - Missense(1)	p.D57G(1)	large_intestine(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(190-192)gacdel		RIO kinase 1																																				SO:0001651	inframe_deletion	83732						ATP binding|protein serine/threonine kinase activity	g.chr6:7393450_7393452delGAC	BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.190_192delGAC	6.37:g.7393450_7393452delGAC	ENSP00000369162:p.Asp69del	False	False		Somatic	1					p.D69del	NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	WXS	Illumina HiSeq	Phase_I	Q9BRS2	RIOK1_HUMAN			2	697_699	+	Ovarian(93;0.0418)		69					B2RB28|Q8NDC8|Q96NV9	In_Frame_Del	DEL	ENST00000379834.2	37	c.190_192delGAC	CCDS4500.1																																																																																				0.433	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039780.2	0	NM_031480		6:7393450
BFSP1	631	broad.mit.edu	37	20	17474942	17474942	+	Missense_Mutation	SNP	G	G	A	rs145703098	byFrequency	TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr20:17474942G>A	ENST00000377873.3	-	8	1814	c.1775C>T	c.(1774-1776)gCg>gTg	p.A592V	BFSP1_ENST00000544874.1_Missense_Mutation_p.A453V|BFSP1_ENST00000536626.1_Missense_Mutation_p.A453V|BFSP1_ENST00000377868.2_Missense_Mutation_p.A467V	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	592	Tail.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CTGATCAGCCGCAGGCTTTGG	0.577													G|||	2	0.000399361	0.0	0.0	5008	,	,		17476	0.0		0.001	False		,,,				2504	0.001					ENST00000377873.3		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						c.(1774-1776)gCg>gTg		beaded filament structural protein 1, filensin		G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	109.0	111.0	110.0		1400,1775	-8.3	0.0	20	dbSNP_134	110	9,8591	7.1+/-27.0	0,9,4291	yes	missense,missense	BFSP1	NM_001161705.1,NM_001195.3	64,64	0,10,6493	AA,AG,GG		0.1047,0.0227,0.0769	benign,benign	467/541,592/666	17474942	10,12996	2203	4300	6503	SO:0001583	missense	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17474942G>A	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.1775C>T	20.37:g.17474942G>A	ENSP00000367104:p.Ala592Val	False	False		Somatic	0				BFSP1_ENST00000544874.1_Missense_Mutation_p.A453V|BFSP1_ENST00000536626.1_Missense_Mutation_p.A453V|BFSP1_ENST00000377868.2_Missense_Mutation_p.A467V	p.A592V	NM_001195.3	NP_001186.1	WXS	Illumina HiSeq	Phase_I	Q12934	BFSP1_HUMAN			8	1814	-			592			Tail.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	c.1775C>T	CCDS13126.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	10.61	1.398916	0.25291	2.27E-4	0.001047	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	4.71	-8.34	0.00988	.	1.350920	0.04463	N	0.374789	T	0.09818	0.0241	N	0.00707	-1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.16837	-1.0389	10	0.25751	T	0.34	-1.6361	0.8359	0.01140	0.2352:0.2059:0.3249:0.234	.	467;592	Q12934-2;Q12934	.;BFSP1_HUMAN	V	592;467;453;453	ENSP00000367104:A592V;ENSP00000367099:A467V;ENSP00000442522:A453V;ENSP00000439870:A453V	ENSP00000367099:A467V	A	-	2	0	BFSP1	17422942	0.000000	0.05858	0.000000	0.03702	0.051000	0.14879	-0.689000	0.05144	-1.958000	0.01019	-1.147000	0.01851	GCG		0.577	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	0	NM_001195		20:17474942
RANBP2	5903	broad.mit.edu	37	2	109371498	109371498	+	Silent	SNP	G	G	A	rs373469365	byFrequency	TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:109371498G>A	ENST00000283195.6	+	16	2466	c.2340G>A	c.(2338-2340)ccG>ccA	p.P780P		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	780					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTCTACACCGTCTCCTACCA	0.353													G|||	3	0.000599042	0.0008	0.0	5008	,	,		15081	0.001		0.0	False		,,,				2504	0.001					ENST00000283195.6		NA																RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2338-2340)ccG>ccA		RAN binding protein 2							98.0	103.0	101.0					2																	109371498		2198	4282	6480	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371498G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2340G>A	2.37:g.109371498G>A		False	False		Somatic	0					p.P780P	NM_006267.4	NP_006258.3	WXS	Illumina HiSeq	Phase_I	P49792	RBP2_HUMAN			16	2466	+			780					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.2340G>A	CCDS2079.1																																																																																				0.353	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	0	NM_006267		2:109371498
GRIK2	2898	broad.mit.edu	37	6	102516294	102516294	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr6:102516294C>T	ENST00000421544.1	+	16	3125	c.2635C>T	c.(2635-2637)Cca>Tca	p.P879S	GRIK2_ENST00000413795.1_3'UTR|GRIK2_ENST00000369137.3_Missense_Mutation_p.P803S|GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000369134.4_Missense_Mutation_p.P830S	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	879					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	AAAACATAAGCCACAGGCCCC	0.423																																						ENST00000421544.1		NA																	0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2635-2637)Cca>Tca		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						113.0	102.0	106.0					6																	102516294		2203	4300	6503	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102516294C>T		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2635C>T	6.37:g.102516294C>T	ENSP00000397026:p.Pro879Ser	False	False		Somatic	0				GRIK2_ENST00000369138.1_3'UTR|GRIK2_ENST00000369134.4_Missense_Mutation_p.P830S|GRIK2_ENST00000369137.3_Missense_Mutation_p.P803S|GRIK2_ENST00000413795.1_3'UTR	p.P879S	NM_021956.4	NP_068775.1	WXS	Illumina HiSeq	Phase_I	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	16	3125	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	879					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.2635C>T	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	C	15.62	2.886211	0.51908	.	.	ENSG00000164418	ENST00000421544;ENST00000369137;ENST00000369134	T;T;T	0.10288	2.89;3.11;2.9	5.79	5.79	0.91817	.	0.049332	0.85682	D	0.000000	T	0.07863	0.0197	L	0.53249	1.67	0.58432	D	0.999999	B	0.16396	0.017	B	0.15484	0.013	T	0.10847	-1.0612	10	0.33141	T	0.24	.	20.0361	0.97558	0.0:1.0:0.0:0.0	.	879	Q13002	GRIK2_HUMAN	S	879;803;830	ENSP00000397026:P879S;ENSP00000358133:P803S;ENSP00000358130:P830S	ENSP00000358130:P830S	P	+	1	0	GRIK2	102622987	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.463000	0.80869	2.745000	0.94114	0.462000	0.41574	CCA		0.423	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1	0			6:102516294
TENM1	10178	broad.mit.edu	37	X	123779129	123779129	+	Silent	SNP	G	G	A			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chrX:123779129G>A	ENST00000371130.3	-	10	1803	c.1740C>T	c.(1738-1740)tgC>tgT	p.C580C	TENM1_ENST00000422452.2_Silent_p.C580C	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	580	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AGCCATGCCGGCAGACACAGT	0.507																																						ENST00000422452.2		NA																	0					NA						c.(1738-1740)tgC>tgT		teneurin transmembrane protein 1							232.0	206.0	215.0					X																	123779129		2203	4300	6503	SO:0001819	synonymous_variant	10178							g.chrX:123779129G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1740C>T	X.37:g.123779129G>A		False	False		Somatic	0				TENM1_ENST00000371130.3_Silent_p.C580C	p.C580C	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1	WXS	Illumina HiSeq	Phase_I					10	1803	-			NA					B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.1740C>T	CCDS14609.1																																																																																				0.507	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	0	NM_014253		X:123779129
SLC12A1	6557	broad.mit.edu	37	15	48539196	48539196	+	Missense_Mutation	SNP	G	G	A	rs182552195	byFrequency	TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr15:48539196G>A	ENST00000558405.1	+	11	1557	c.1543G>A	c.(1543-1545)Gca>Aca	p.A515T	SLC12A1_ENST00000380993.3_Missense_Mutation_p.A515T|SLC12A1_ENST00000396577.3_Missense_Mutation_p.A515T			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	515					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCTTGTCAGCGCACCCAAAGT	0.498													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19312	0.0		0.0	False		,,,				2504	0.0					ENST00000396577.3		NA																	0				NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59						c.(1543-1545)Gca>Aca		solute carrier family 12 (sodium/potassium/chloride transporter), member 1	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)						200.0	185.0	190.0					15																	48539196		2198	4297	6495	SO:0001583	missense	6557				potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity	g.chr15:48539196G>A		CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.1543G>A	15.37:g.48539196G>A	ENSP00000453409:p.Ala515Thr	False	False		Somatic	0				SLC12A1_ENST00000558405.1_Missense_Mutation_p.A515T|SLC12A1_ENST00000380993.3_Missense_Mutation_p.A515T	p.A515T	NM_001184832.1	NP_001171761.1	WXS	Illumina HiSeq	Phase_I	Q13621	S12A1_HUMAN		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	12	1758	+		all_lung(180;0.00219)	515					A8JYA2|E9PDW4	Missense_Mutation	SNP	ENST00000558405.1	37	c.1543G>A	CCDS10129.2	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	G	29.8	5.039849	0.93630	.	.	ENSG00000074803	ENST00000428362;ENST00000380993;ENST00000396577	D;D	0.98876	-5.2;-5.2	4.98	4.98	0.66077	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99227	0.9731	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.99395	1.0926	10	0.87932	D	0	.	18.4428	0.90673	0.0:0.0:1.0:0.0	.	515;515	E9PDW4;Q13621	.;S12A1_HUMAN	T	328;515;515	ENSP00000370381:A515T;ENSP00000379822:A515T	ENSP00000370381:A515T	A	+	1	0	SLC12A1	46326488	1.000000	0.71417	0.946000	0.38457	0.954000	0.61252	9.652000	0.98499	2.582000	0.87167	0.655000	0.94253	GCA		0.498	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417131.1	0			15:48539196
CLEC12A	160364	broad.mit.edu	37	12	10131591	10131591	+	Missense_Mutation	SNP	C	C	T	rs141455664		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr12:10131591C>T	ENST00000304361.4	+	2	300	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	CLEC12A_ENST00000355690.4_Missense_Mutation_p.R50C|CLEC12A_ENST00000434319.2_Missense_Mutation_p.R40C|CLEC12A_ENST00000350667.4_Intron	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						TCATGTATGGCGTCCAGCAGC	0.433													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16812	0.0		0.0	False		,,,				2504	0.0				Melanoma(197;1487 2125 16611 22221 34855)	ENST00000304361.4		NA																	0				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						c.(118-120)Cgt>Tgt		C-type lectin domain family 12, member A		C	CYS/ARG,CYS/ARG,	0,4406		0,0,2203	207.0	192.0	197.0		148,118,	2.7	0.0	12	dbSNP_134	197	2,8598	1.2+/-3.3	0,2,4298	yes	missense,missense,intron	CLEC12A	NM_001207010.1,NM_138337.5,NM_201623.3	180,180,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,	50/276,40/266,	10131591	2,13004	2203	4300	6503	SO:0001583	missense	160364					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10131591C>T	AY498550	CCDS8608.1, CCDS8609.1, CCDS55803.1, CCDS73442.1	12p13.31	2010-08-17			ENSG00000172322	ENSG00000172322		"""C-type lectin domain containing"""	31713	protein-coding gene	gene with protein product		612088					Standard	NM_201623		Approved	CLL-1, MICL	uc001qwq.3	Q5QGZ9		ENST00000304361.4:c.118C>T	12.37:g.10131591C>T	ENSP00000302804:p.Arg40Cys	False	False		Somatic	0				CLEC12A_ENST00000434319.2_Missense_Mutation_p.R40C|CLEC12A_ENST00000355690.4_Missense_Mutation_p.R50C|CLEC12A_ENST00000350667.4_Intron	p.R40C	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	WXS	Illumina HiSeq	Phase_I	Q5QGZ9	CL12A_HUMAN			2	300	+			40					B2RA16|Q6P4H1|Q6RH77|Q6RH78|Q8TDQ6	Missense_Mutation	SNP	ENST00000304361.4	37	c.118C>T	CCDS8608.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.584844	0.28268	0.0	2.33E-4	ENSG00000172322	ENST00000355690;ENST00000396507;ENST00000304361;ENST00000434319	T;T;T;T	0.09163	4.41;3.01;4.43;3.88	4.58	2.69	0.31865	.	.	.	.	.	T	0.13586	0.0329	M	0.84219	2.685	0.19945	N	0.999945	B;B	0.33549	0.293;0.417	B;B	0.25759	0.029;0.063	T	0.15178	-1.0446	9	0.44086	T	0.13	.	6.7049	0.23244	0.0:0.718:0.1808:0.1011	.	40;50	Q5QGZ9;Q5QGZ9-1	CL12A_HUMAN;.	C	50;40;40;40	ENSP00000347916:R50C;ENSP00000379764:R40C;ENSP00000302804:R40C;ENSP00000405244:R40C	ENSP00000302804:R40C	R	+	1	0	CLEC12A	10022858	0.025000	0.19082	0.018000	0.16275	0.008000	0.06430	0.136000	0.15974	0.591000	0.29711	0.650000	0.86243	CGT		0.433	CLEC12A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399545.1	0	NM_138337		12:10131591
CMYA5	202333	broad.mit.edu	37	5	79032394	79032394	+	Silent	SNP	C	C	T			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr5:79032394C>T	ENST00000446378.2	+	2	7837	c.7806C>T	c.(7804-7806)ctC>ctT	p.L2602L		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2602					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAGCCATGCTCGCAGAGGCTC	0.398																																						ENST00000446378.2		NA																	0				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128						c.(7804-7806)ctC>ctT		cardiomyopathy associated 5							60.0	61.0	61.0					5																	79032394		1853	4106	5959	SO:0001819	synonymous_variant	202333					perinuclear region of cytoplasm		g.chr5:79032394C>T	AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.7806C>T	5.37:g.79032394C>T		False	False		Somatic	0					p.L2602L	NM_153610.3	NP_705838.3	WXS	Illumina HiSeq	Phase_I	Q8N3K9	CMYA5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)	2	7837	+		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)	2602					A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	ENST00000446378.2	37	c.7806C>T	CCDS47238.1																																																																																				0.398	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	0	NM_153610		5:79032394
ZNF70	7621	broad.mit.edu	37	22	24087156	24087156	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr22:24087156C>T	ENST00000341976.3	-	2	632	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	58					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						TCATTTTCTTCGTCCTGCTCA	0.507																																						ENST00000341976.3		NA																	0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						c.(172-174)Gaa>Aaa		zinc finger protein 70							101.0	101.0	101.0					22																	24087156		2203	4300	6503	SO:0001583	missense	7621					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr22:24087156C>T	X60077	CCDS13812.1	22q11.23	2013-01-08	2006-05-12		ENSG00000187792	ENSG00000187792		"""Zinc fingers, C2H2-type"""	13140	protein-coding gene	gene with protein product		194544	"""zinc finger protein 70 (Cos17)"""			1639391	Standard	NM_021916		Approved	Cos17, MGC48959	uc002zxs.3	Q9UC06	OTTHUMG00000150739	ENST00000341976.3:c.172G>A	22.37:g.24087156C>T	ENSP00000339314:p.Glu58Lys	False	False		Somatic	0					p.E58K	NM_021916.2	NP_068735.1	WXS	Illumina HiSeq	Phase_I	Q9UC06	ZNF70_HUMAN			2	632	-			58						Missense_Mutation	SNP	ENST00000341976.3	37	c.172G>A	CCDS13812.1	.	.	.	.	.	.	.	.	.	.	C	4.116	0.019653	0.08006	.	.	ENSG00000187792	ENST00000341976	T	0.06294	3.32	3.26	0.946	0.19549	.	.	.	.	.	T	0.05044	0.0135	L	0.36672	1.1	0.09310	N	1	B	0.24132	0.098	B	0.12837	0.008	T	0.38499	-0.9658	9	0.87932	D	0	.	3.5857	0.07970	0.4283:0.437:0.0:0.1346	.	58	Q9UC06	ZNF70_HUMAN	K	58	ENSP00000339314:E58K	ENSP00000339314:E58K	E	-	1	0	ZNF70	22417156	0.039000	0.19947	0.000000	0.03702	0.011000	0.07611	0.251000	0.18257	0.324000	0.23333	0.650000	0.86243	GAA		0.507	ZNF70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319881.1	0	NM_021916		22:24087156
TTN	7273	broad.mit.edu	37	2	179483095	179483095	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:179483095C>T	ENST00000591111.1	-	202	42391	c.42167G>A	c.(42166-42168)cGt>cAt	p.R14056H	RP11-171I2.4_ENST00000605334.1_lincRNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6757H|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R15697H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13129H|TTN_ENST00000460472.2_Missense_Mutation_p.R6632H|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R6824H|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14056	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				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)			CTTAATGTCACGTCTTTCAAC	0.438																																						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.(47089-47091)cGt>cAt		titin							76.0	74.0	74.0					2																	179483095		1923	4122	6045	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179483095C>T	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.42167G>A	2.37:g.179483095C>T	ENSP00000465570:p.Arg14056His	False	False		Somatic	0				TTN_ENST00000342175.6_Missense_Mutation_p.R6824H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R14056H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R6757H|TTN_ENST00000460472.2_Missense_Mutation_p.R6632H|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13129H	p.R15697H	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)		252	47314	-			14056			Ig-like 98.		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	Missense_Mutation	SNP	ENST00000591111.1	37	c.47090G>A		.	.	.	.	.	.	.	.	.	.	C	15.85	2.955264	0.53293	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.75	5.75	0.90469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.82499	0.5050	M	0.91140	3.18	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.85254	0.1046	9	0.87932	D	0	.	20.3046	0.98621	0.0:1.0:0.0:0.0	.	6632;6757;6824;14056	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	13129;6632;6824;6757;6632	ENSP00000343764:R13129H;ENSP00000434586:R6632H;ENSP00000340554:R6824H;ENSP00000352154:R6757H	ENSP00000340554:R6824H	R	-	2	0	TTN	179191340	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.776000	0.85560	2.878000	0.98634	0.650000	0.86243	CGT		0.438	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179483095
QRICH1	54870	broad.mit.edu	37	3	49094328	49094328	+	Silent	SNP	C	C	T			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr3:49094328C>T	ENST00000395443.2	-	3	1777	c.1305G>A	c.(1303-1305)caG>caA	p.Q435Q	QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Silent_p.Q435Q|QRICH1_ENST00000357496.2_Silent_p.Q435Q	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	435	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		gctgctgctgctgtggtggtg	0.562																																						ENST00000395443.2		NA																	0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1303-1305)caG>caA		glutamine-rich 1							56.0	59.0	58.0					3																	49094328		2203	4300	6503	SO:0001819	synonymous_variant	54870							g.chr3:49094328C>T		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1305G>A	3.37:g.49094328C>T		True	False		Somatic	0				QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Silent_p.Q435Q|QRICH1_ENST00000357496.2_Silent_p.Q435Q	p.Q435Q	NM_198880.1	NP_942581.1	WXS	Illumina HiSeq	Phase_I	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1777	-			435			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	Silent	SNP	ENST00000395443.2	37	c.1305G>A	CCDS2787.1																																																																																				0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	0	NM_017730		3:49094328
DNAH7	56171	broad.mit.edu	37	2	196825327	196825327	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:196825327G>A	ENST00000312428.6	-	18	2648	c.2548C>T	c.(2548-2550)Cgc>Tgc	p.R850C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	850	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.R850C(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGCCTGGGGCGCAAACCAGGA	0.453																																						ENST00000312428.6		NA																	1	Substitution - Missense(1)	p.R850C(1)	prostate(1)	NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(2548-2550)Cgc>Tgc		dynein, axonemal, heavy chain 7							124.0	126.0	125.0					2																	196825327		1935	4131	6066	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196825327G>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.2548C>T	2.37:g.196825327G>A	ENSP00000311273:p.Arg850Cys	False	False		Somatic	0					p.R850C	NM_018897.2	NP_061720.2	WXS	Illumina HiSeq	Phase_I	Q8WXX0	DYH7_HUMAN			18	2648	-			850			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.2548C>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.952760	0.53293	.	.	ENSG00000118997	ENST00000312428	T	0.63417	-0.04	5.74	5.74	0.90152	Dynein heavy chain, domain-2 (1);	0.125121	0.53938	D	0.000044	D	0.84392	0.5462	M	0.93375	3.41	0.80722	D	1	D	0.76494	0.999	D	0.64877	0.93	D	0.87323	0.2319	10	0.59425	D	0.04	.	19.9196	0.97082	0.0:0.0:1.0:0.0	.	850	Q8WXX0	DYH7_HUMAN	C	850	ENSP00000311273:R850C	ENSP00000311273:R850C	R	-	1	0	DNAH7	196533572	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	4.626000	0.61269	2.708000	0.92522	0.650000	0.86243	CGC		0.453	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	0	NM_018897		2:196825327
FER1L6	654463	broad.mit.edu	37	8	125035751	125035751	+	Missense_Mutation	SNP	G	G	A	rs371597054		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr8:125035751G>A	ENST00000522917.1	+	18	2407	c.2201G>A	c.(2200-2202)cGc>cAc	p.R734H	FER1L6_ENST00000399018.1_Missense_Mutation_p.R734H|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	734						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GCCTATGCCCGCATCGCCTCC	0.527																																						ENST00000522917.1		NA																	0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118						c.(2200-2202)cGc>cAc		fer-1-like 6 (C. elegans)		G	HIS/ARG	0,3952		0,0,1976	100.0	103.0	102.0		2201	5.8	1.0	8		102	1,8321		0,1,4160	no	missense	FER1L6	NM_001039112.2	29	0,1,6136	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	734/1858	125035751	1,12273	1976	4161	6137	SO:0001583	missense	654463					integral to membrane		g.chr8:125035751G>A	AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2201G>A	8.37:g.125035751G>A	ENSP00000428280:p.Arg734His	True	False		Somatic	0				FER1L6_ENST00000399018.1_Missense_Mutation_p.R734H|FER1L6-AS1_ENST00000518567.1_RNA	p.R734H	NM_001039112.2	NP_001034201.2	WXS	Illumina HiSeq	Phase_I	Q2WGJ9	FR1L6_HUMAN	STAD - Stomach adenocarcinoma(47;0.00186)		18	2407	+	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		734						Missense_Mutation	SNP	ENST00000522917.1	37	c.2201G>A	CCDS43767.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971850	0.92919	0.0	1.2E-4	ENSG00000214814	ENST00000522917;ENST00000399018	T;T	0.79352	-1.26;-1.26	5.81	5.81	0.92471	Ferlin B-domain (1);	0.162857	0.34435	U	0.003970	D	0.89550	0.6747	M	0.91663	3.23	0.58432	D	0.999998	D	0.76494	0.999	D	0.70935	0.971	D	0.91017	0.4854	10	0.72032	D	0.01	.	12.8851	0.58038	0.0779:0.0:0.9221:0.0	.	734	Q2WGJ9	FR1L6_HUMAN	H	734	ENSP00000428280:R734H;ENSP00000381982:R734H	ENSP00000381982:R734H	R	+	2	0	FER1L6	125104932	1.000000	0.71417	0.981000	0.43875	0.968000	0.65278	9.072000	0.93986	2.751000	0.94390	0.555000	0.69702	CGC		0.527	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381400.1	0	NM_001039112		8:125035751
SLC45A4	57210	broad.mit.edu	37	8	142228865	142228865	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr8:142228865C>T	ENST00000024061.3	-	4	1028	c.721G>A	c.(721-723)Gag>Aag	p.E241K	SLC45A4_ENST00000519067.1_Missense_Mutation_p.E241K|SLC45A4_ENST00000433583.2_Missense_Mutation_p.E234K|SLC45A4_ENST00000517878.1_Missense_Mutation_p.E292K	NM_001080431.1	NP_001073900.1	Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4						transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AGGGCCAGCTCGTGCTCCGAC	0.701																																						ENST00000519067.1		NA																	0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(721-723)Gag>Aag		solute carrier family 45, member 4							86.0	90.0	89.0					8																	142228865		2203	4300	6503	SO:0001583	missense	57210				transport	integral to membrane		g.chr8:142228865C>T	AB032952	CCDS34948.1, CCDS69550.1, CCDS75795.1	8q24.3	2013-05-22						"""Solute carriers"""	29196	protein-coding gene	gene with protein product							Standard	NM_001080431		Approved	KIAA1126	uc003ywd.1	Q5BKX6		ENST00000024061.3:c.721G>A	8.37:g.142228865C>T	ENSP00000024061:p.Glu241Lys	False	False		Somatic	0				SLC45A4_ENST00000024061.3_Missense_Mutation_p.E241K|SLC45A4_ENST00000517878.1_Missense_Mutation_p.E292K|SLC45A4_ENST00000433583.2_Missense_Mutation_p.E234K	p.E241K			WXS	Illumina HiSeq	Phase_I	Q5BKX6	S45A4_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0493)		4	1024	-	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		292					Q6ZRI2|Q9ULU3	Missense_Mutation	SNP	ENST00000024061.3	37	c.721G>A	CCDS34948.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.355746	0.61293	.	.	ENSG00000022567	ENST00000519067;ENST00000517878;ENST00000433583;ENST00000024061	T;T;T;T	0.15834	2.44;2.42;2.42;2.39	5.75	5.75	0.90469	.	0.057056	0.64402	D	0.000002	T	0.18676	0.0448	L	0.54323	1.7	0.39689	D	0.971018	B;B;B	0.33238	0.084;0.403;0.066	B;B;B	0.22601	0.016;0.04;0.023	T	0.03695	-1.1012	10	0.26408	T	0.33	-22.7247	20.0015	0.97412	0.0:1.0:0.0:0.0	.	292;241;241	E7EV90;Q5BKX6-3;Q5BKX6-2	.;.;.	K	241;292;234;241	ENSP00000429059:E241K;ENSP00000428137:E292K;ENSP00000400799:E234K;ENSP00000024061:E241K	ENSP00000024061:E241K	E	-	1	0	SLC45A4	142298047	0.997000	0.39634	1.000000	0.80357	0.545000	0.35147	3.460000	0.53028	2.731000	0.93534	0.555000	0.69702	GAG		0.701	SLC45A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378571.3	0	XM_050325		8:142228865
CSTF3	1479	broad.mit.edu	37	11	33120306	33120306	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr11:33120306C>T	ENST00000323959.4	-	13	1197	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	353					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						ATACTTCATGCGACTCTAAGG	0.398																																						ENST00000323959.4		NA																	0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						c.(1057-1059)cGc>cAc		cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa							174.0	182.0	179.0					11																	33120306		2202	4298	6500	SO:0001583	missense	1479				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding	g.chr11:33120306C>T	U15782	CCDS7883.1, CCDS44563.1, CCDS44564.1	11p13	2007-01-05	2002-08-29		ENSG00000176102	ENSG00000176102			2485	protein-coding gene	gene with protein product		600367	"""cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kD"""			7984242	Standard	XM_006718154		Approved	CstF-77	uc001muh.3	Q12996	OTTHUMG00000166268	ENST00000323959.4:c.1058G>A	11.37:g.33120306C>T	ENSP00000315791:p.Arg353His	False	False		Somatic	0				TCP11L1_ENST00000324357.9_Intron	p.R353H	NM_001326.2	NP_001317.1	WXS	Illumina HiSeq	Phase_I	Q12996	CSTF3_HUMAN			13	1197	-			353					A8K471|D3DR04|E9PB40|Q32P22|Q96FQ8|Q96QD6|Q96QK4	Missense_Mutation	SNP	ENST00000323959.4	37	c.1058G>A	CCDS7883.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599320	0.66332	.	.	ENSG00000176102	ENST00000323959;ENST00000537832	T	0.35421	1.31	5.71	4.79	0.61399	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.40956	0.1138	M	0.84846	2.72	0.80722	D	1	P	0.46457	0.878	B	0.32980	0.156	T	0.55667	-0.8105	10	0.54805	T	0.06	.	15.992	0.80214	0.1358:0.8642:0.0:0.0	.	353	Q12996	CSTF3_HUMAN	H	353;286	ENSP00000315791:R353H	ENSP00000315791:R353H	R	-	2	0	CSTF3	33076882	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.813000	0.86123	1.394000	0.46624	0.650000	0.86243	CGC		0.398	CSTF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388801.1	0	NM_001326		11:33120306
AQR	9716	broad.mit.edu	37	15	35202432	35202432	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr15:35202432C>T	ENST00000156471.5	-	17	1792	c.1567G>A	c.(1567-1569)Gcc>Acc	p.A523T		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	523					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TTGGGTTTGGCCACTTCAACG	0.473																																						ENST00000156471.5		NA																	0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57						c.(1567-1569)Gcc>Acc		aquarius intron-binding spliceosomal factor							138.0	136.0	137.0					15																	35202432		1929	4128	6057	SO:0001583	missense	9716					catalytic step 2 spliceosome	RNA binding	g.chr15:35202432C>T	AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.1567G>A	15.37:g.35202432C>T	ENSP00000156471:p.Ala523Thr	False	False		Somatic	0					p.A523T	NM_014691.2	NP_055506.1	WXS	Illumina HiSeq	Phase_I	O60306	AQR_HUMAN		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)	17	1792	-		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)	523					A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Missense_Mutation	SNP	ENST00000156471.5	37	c.1567G>A	CCDS42013.1	.	.	.	.	.	.	.	.	.	.	C	36	5.798913	0.96960	.	.	ENSG00000021776	ENST00000156471;ENST00000543879	D	0.93953	-3.32	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.96800	0.8955	M	0.91249	3.19	0.80722	D	1	D	0.54772	0.968	P	0.54664	0.758	D	0.96700	0.9517	10	0.52906	T	0.07	-13.1707	19.9112	0.97025	0.0:1.0:0.0:0.0	.	523	O60306	AQR_HUMAN	T	523	ENSP00000156471:A523T	ENSP00000156471:A523T	A	-	1	0	AQR	32989724	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.696000	0.84270	2.718000	0.92993	0.585000	0.79938	GCC		0.473	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	0	NM_014691		15:35202432
MAP2	4133	broad.mit.edu	37	2	210558569	210558569	+	Missense_Mutation	SNP	G	G	C			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:210558569G>C	ENST00000360351.4	+	7	2181	c.1675G>C	c.(1675-1677)Gat>Cat	p.D559H	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.D555H	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	559					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGCTGAGCTTGATATGCCATT	0.368																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4		NA																	0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(1675-1677)Gat>Cat		microtubule-associated protein 2	Estramustine(DB01196)						103.0	100.0	101.0					2																	210558569		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210558569G>C		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.1675G>C	2.37:g.210558569G>C	ENSP00000353508:p.Asp559His	False	False		Somatic	0				MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.D555H|MAP2_ENST00000199940.6_Intron	p.D559H	NM_002374.3	NP_002365.3	WXS	Illumina HiSeq	Phase_I	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	2181	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	559					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.1675G>C	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362979	0.24684	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.19938	2.11;2.11	6.16	5.27	0.74061	MAP2/Tau projection (1);	0.357573	0.27451	N	0.019304	T	0.30230	0.0758	L	0.50333	1.59	0.09310	N	0.999995	P;P	0.50819	0.925;0.939	P;P	0.54499	0.639;0.754	T	0.18209	-1.0344	10	0.87932	D	0	-4.3757	7.7851	0.29087	0.129:0.2609:0.6101:0.0	.	555;559	P11137-3;P11137	.;MAP2_HUMAN	H	559;555	ENSP00000353508:D559H;ENSP00000392164:D555H	ENSP00000353508:D559H	D	+	1	0	MAP2	210266814	0.358000	0.24947	0.809000	0.32408	0.394000	0.30568	1.674000	0.37544	1.561000	0.49584	0.650000	0.86243	GAT		0.368	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	0	NM_001039538		2:210558569
C10orf90	118611	broad.mit.edu	37	10	128147750	128147750	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr10:128147750G>A	ENST00000284694.7	-	6	1876	c.1756C>T	c.(1756-1758)Cgc>Tgc	p.R586C	C10orf90_ENST00000356858.3_Missense_Mutation_p.R539C|C10orf90_ENST00000454341.1_Missense_Mutation_p.R489C|C10orf90_ENST00000544758.1_Missense_Mutation_p.R683C|C10orf90_ENST00000480379.1_5'UTR	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	586	ALMS motif. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TCTTGTGAGCGAGAAATGAAC	0.498																																						ENST00000284694.7		NA																	0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						c.(1756-1758)Cgc>Tgc		chromosome 10 open reading frame 90							162.0	137.0	145.0					10																	128147750		2203	4300	6503	SO:0001583	missense	118611							g.chr10:128147750G>A	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1756C>T	10.37:g.128147750G>A	ENSP00000284694:p.Arg586Cys	False	False		Somatic	0				C10orf90_ENST00000480379.1_5'UTR|C10orf90_ENST00000454341.1_Missense_Mutation_p.R489C|C10orf90_ENST00000544758.1_Missense_Mutation_p.R683C|C10orf90_ENST00000356858.3_Missense_Mutation_p.R539C	p.R586C	NM_001004298.2	NP_001004298.2	WXS	Illumina HiSeq	Phase_I	Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	6	1876	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)	586					B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Missense_Mutation	SNP	ENST00000284694.7	37	c.1756C>T	CCDS31310.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.160951	0.78226	.	.	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642	T;T;T;T	0.29917	1.7;1.81;1.74;1.55	5.01	5.01	0.66863	.	0.000000	0.43919	D	0.000518	T	0.53965	0.1829	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.998	T	0.56475	-0.7973	10	0.87932	D	0	-27.713	15.1753	0.72907	0.0:0.0:1.0:0.0	.	683;586;489	F5GZL2;Q96M02;Q96M02-2	.;CJ090_HUMAN;.	C	539;586;489;683;586	ENSP00000284694:R586C;ENSP00000398786:R489C;ENSP00000444369:R683C;ENSP00000405995:R586C	ENSP00000284694:R586C	R	-	1	0	C10orf90	128137740	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.049000	0.71053	2.595000	0.87683	0.655000	0.94253	CGC		0.498	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_001004298		10:128147750
TMEM215	401498	broad.mit.edu	37	9	32784414	32784414	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr9:32784414G>A	ENST00000342743.5	+	2	598	c.233G>A	c.(232-234)cGc>cAc	p.R78H		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	78						integral component of membrane (GO:0016021)				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CTGTGGGTCCGCAAATTGCCC	0.597																																						ENST00000342743.5		NA																	0				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						c.(232-234)cGc>cAc		transmembrane protein 215							85.0	76.0	79.0					9																	32784414		2203	4300	6503	SO:0001583	missense	401498					integral to membrane		g.chr9:32784414G>A		CCDS6530.1	9p21.1	2008-08-08			ENSG00000188133	ENSG00000188133			33816	protein-coding gene	gene with protein product							Standard	NM_212558		Approved		uc003zri.4	Q68D42	OTTHUMG00000129521	ENST00000342743.5:c.233G>A	9.37:g.32784414G>A	ENSP00000345468:p.Arg78His	False	False		Somatic	0					p.R78H	NM_212558.2	NP_997723.2	WXS	Illumina HiSeq	Phase_I	Q68D42	TM215_HUMAN			2	598	+			78					Q6ZUU2	Missense_Mutation	SNP	ENST00000342743.5	37	c.233G>A	CCDS6530.1	.	.	.	.	.	.	.	.	.	.	G	8.409	0.843700	0.16963	.	.	ENSG00000188133	ENST00000342743	.	.	.	5.18	4.28	0.50868	.	0.113770	0.38326	N	0.001736	T	0.31040	0.0784	N	0.19112	0.55	0.30856	N	0.734062	B	0.25169	0.119	B	0.17433	0.018	T	0.31530	-0.9940	9	0.56958	D	0.05	-16.3167	9.7196	0.40295	0.0963:0.0:0.9037:0.0	.	78	Q68D42	TM215_HUMAN	H	78	.	ENSP00000345468:R78H	R	+	2	0	TMEM215	32774414	1.000000	0.71417	1.000000	0.80357	0.111000	0.19643	3.258000	0.51507	1.184000	0.42957	-0.258000	0.10820	CGC		0.597	TMEM215-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251701.1	0	NM_212558		9:32784414
FLT4	2324	broad.mit.edu	37	5	180048549	180048549	+	Silent	SNP	C	C	G	rs370019097		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr5:180048549C>G	ENST00000261937.6	-	13	2091	c.2013G>C	c.(2011-2013)tcG>tcC	p.S671S	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.S671S|FLT4_ENST00000393347.3_Silent_p.S671S	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	671	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|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 JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CACCCTGCACCGACAGGTACT	0.672																																					Colon(97;1075 1466 27033 27547 35871)	ENST00000261937.6		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(2011-2013)tcG>tcC		fms-related tyrosine kinase 4	Sorafenib(DB00398)|Sunitinib(DB01268)						32.0	33.0	33.0					5																	180048549		2197	4293	6490	SO:0001819	synonymous_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180048549C>G	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.2013G>C	5.37:g.180048549C>G		False	False		Somatic	0				FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.S671S|FLT4_ENST00000393347.3_Silent_p.S671S	p.S671S	NM_182925.4	NP_891555.2	WXS	Illumina HiSeq	Phase_I	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	13	2091	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	671			Ig-like C2-type 6.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.2013G>C	CCDS4457.1																																																																																				0.672	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4	0			5:180048549
GCNT2	2651	broad.mit.edu	37	6	10586309	10586309	+	Intron	SNP	G	G	A	rs201305914		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr6:10586309G>A	ENST00000379597.3	+	2	1481				GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000265012.4_Silent_p.P29P|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)						maintenance of lens transparency (GO:0036438)|negative regulation of cell-substrate adhesion (GO:0010812)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of protein kinase B signaling (GO:0051897)|posttranscriptional regulation of gene expression (GO:0010608)|protein glycosylation (GO:0006486)|transforming growth factor beta receptor signaling pathway (GO:0007179)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity (GO:0008109)			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AATTGAGCCCGCCAAAAAGTT	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20608	0.0		0.0	False		,,,				2504	0.0					ENST00000265012.4		NA																	0				endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12						c.(85-87)ccG>ccA		glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)							138.0	133.0	135.0					6																	10586309		2203	4300	6503	SO:0001627	intron_variant	2651					Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity	g.chr6:10586309G>A	L41605	CCDS4512.1, CCDS4513.1, CCDS34338.1	6p24.2	2014-07-18	2006-02-23		ENSG00000111846	ENSG00000111846	2.4.1.150	"""Blood group antigens"", ""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4204	protein-coding gene	gene with protein product	"""Ii blood group"", ""unassigned linkage group 3"""	600429	"""glucosaminyl (N-acetyl) transferase 5"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme"", ""glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (Ii blood group)"", ""cataract, congenital"""	NACGT1, II, GCNT5, CCAT		8449405, 9915862	Standard	NM_145649		Approved	IGNT, NAGCT1, bA421M1.1, bA360O19.2, ULG3	uc003mze.3	Q06430	OTTHUMG00000014244	ENST00000379597.3:c.926-35275G>A	6.37:g.10586309G>A		True	False		Somatic	0				GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000316170.3_Intron|GCNT2_ENST00000379597.3_Intron	p.P29P	NM_145655.3	NP_663630.2	WXS	Illumina HiSeq	Phase_I	Q8N0V5	GNT2A_HUMAN		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)	1	331	+	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)	30						Silent	SNP	ENST00000379597.3	37	c.87G>A	CCDS34338.1																																																																																				0.403	GCNT2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327912.3	0	NM_145649		6:10586309
KIAA0895	23366	broad.mit.edu	37	7	36374693	36374693	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr7:36374693C>T	ENST00000297063.6	-	4	1012	c.962G>A	c.(961-963)cGt>cAt	p.R321H	KIAA0895_ENST00000480192.1_5'UTR|KIAA0895_ENST00000338533.5_Missense_Mutation_p.R308H|KIAA0895_ENST00000317020.6_Missense_Mutation_p.R270H|Y_RNA_ENST00000364562.1_RNA|KIAA0895_ENST00000453212.1_Missense_Mutation_p.R76H|KIAA0895_ENST00000440378.1_Missense_Mutation_p.R318H|KIAA0895_ENST00000436884.1_Missense_Mutation_p.R218H	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	321										breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCAATGCTCACGTGCAGTGGA	0.433																																						ENST00000317020.6		NA																	0				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						c.(808-810)cGt>cAt		KIAA0895							113.0	109.0	110.0					7																	36374693		2035	4206	6241	SO:0001583	missense	23366							g.chr7:36374693C>T	BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.962G>A	7.37:g.36374693C>T	ENSP00000297063:p.Arg321His	False	False		Somatic	0				KIAA0895_ENST00000453212.1_Missense_Mutation_p.R76H|KIAA0895_ENST00000297063.6_Missense_Mutation_p.R321H|KIAA0895_ENST00000338533.5_Missense_Mutation_p.R308H|KIAA0895_ENST00000436884.1_Missense_Mutation_p.R218H|KIAA0895_ENST00000480192.1_5'UTR|KIAA0895_ENST00000440378.1_Missense_Mutation_p.R318H	p.R270H	NM_015314.2	NP_056129.2	WXS	Illumina HiSeq	Phase_I	Q8NCT3	K0895_HUMAN			3	1109	-			321					B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	37	c.809G>A	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	C	35	5.530230	0.96446	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000453212;ENST00000431396	.	.	.	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.83413	0.5249	M	0.77313	2.365	0.80722	D	1	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;0.999;0.999	D	0.84184	0.0441	9	0.72032	D	0.01	-11.6493	20.142	0.98061	0.0:1.0:0.0:0.0	.	318;218;321;308;270	B7ZLT4;B4DF35;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;K0895_HUMAN;.;.	H	321;308;270;318;218;76;76	.	ENSP00000297063:R321H	R	-	2	0	KIAA0895	36341218	1.000000	0.71417	0.994000	0.49952	0.962000	0.63368	7.393000	0.79851	2.754000	0.94517	0.655000	0.94253	CGT		0.433	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	0	NM_015314		7:36374693
ANKRD30A	91074	broad.mit.edu	37	10	37486356	37486356	+	Missense_Mutation	SNP	G	G	C			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr10:37486356G>C	ENST00000602533.1	+	29	2595	c.2496G>C	c.(2494-2496)aaG>aaC	p.K832N	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K832N|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.K951N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	888					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAATGCAAAAGTCTGTTCCAA	0.308																																						ENST00000374660.1		NA																	0				NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						c.(2851-2853)aaG>aaC		ankyrin repeat domain 30A							87.0	78.0	81.0					10																	37486356		1801	4060	5861	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37486356G>C	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.2496G>C	10.37:g.37486356G>C	ENSP00000473551:p.Lys832Asn	True	False		Somatic	0				ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K832N|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K832N	p.K951N			WXS	Illumina HiSeq	Phase_I	Q9BXX3	AN30A_HUMAN			35	2952	+			1000					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.2853G>C		.	.	.	.	.	.	.	.	.	.	.	0.001	-3.321822	0.00018	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.05139	3.49;3.49	1.36	-2.73	0.05950	.	.	.	.	.	T	0.02230	0.0069	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.41520	-0.9504	9	0.14252	T	0.57	.	0.0386	0.00007	0.2591:0.193:0.2234:0.3245	.	888	Q9BXX3	AN30A_HUMAN	N	832;951	ENSP00000354432:K832N;ENSP00000363792:K951N	ENSP00000354432:K832N	K	+	3	2	ANKRD30A	37526362	0.004000	0.15560	0.000000	0.03702	0.001000	0.01503	0.102000	0.15272	-2.701000	0.00398	-2.035000	0.00420	AAG		0.308	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	0	NM_052997		10:37486356
QRICH1	54870	broad.mit.edu	37	3	49094329	49094329	+	Missense_Mutation	SNP	T	T	G			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr3:49094329T>G	ENST00000395443.2	-	3	1776	c.1304A>C	c.(1303-1305)cAg>cCg	p.Q435P	QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Missense_Mutation_p.Q435P|QRICH1_ENST00000357496.2_Missense_Mutation_p.Q435P	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	435	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		ctgctgctgctgtggtggtgg	0.562																																						ENST00000395443.2		NA																	0				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25						c.(1303-1305)cAg>cCg		glutamine-rich 1							56.0	59.0	58.0					3																	49094329		2203	4300	6503	SO:0001583	missense	54870							g.chr3:49094329T>G		CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1304A>C	3.37:g.49094329T>G	ENSP00000378830:p.Gln435Pro	True	False		Somatic	0				QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000424300.1_Missense_Mutation_p.Q435P|QRICH1_ENST00000357496.2_Missense_Mutation_p.Q435P	p.Q435P	NM_198880.1	NP_942581.1	WXS	Illumina HiSeq	Phase_I	Q2TAL8	QRIC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	3	1776	-			435			Gln-rich.		Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	ENST00000395443.2	37	c.1304A>C	CCDS2787.1	.	.	.	.	.	.	.	.	.	.	T	5.645	0.303697	0.10678	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.43	1.78	0.24846	.	0.841724	0.11273	N	0.581264	T	0.28333	0.0700	N	0.08118	0	0.30548	N	0.765714	B	0.02656	0.0	B	0.01281	0.0	T	0.19679	-1.0298	9	0.28530	T	0.3	-0.0185	13.1216	0.59329	0.0:0.0:0.2998:0.7002	.	435	Q2TAL8	QRIC1_HUMAN	P	435	.	ENSP00000350094:Q435P	Q	-	2	0	QRICH1	49069333	0.520000	0.26250	0.659000	0.29680	0.912000	0.54170	0.726000	0.25984	0.069000	0.16605	0.533000	0.62120	CAG		0.562	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1	0	NM_017730		3:49094329
SDHA	6389	broad.mit.edu	37	5	228381	228381	+	Missense_Mutation	SNP	A	A	T			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr5:228381A>T	ENST00000264932.6	+	6	818	c.703A>T	c.(703-705)Atc>Ttc	p.I235F	SDHA_ENST00000510361.1_Missense_Mutation_p.I187F|SDHA_ENST00000504309.1_Missense_Mutation_p.I235F	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	235					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	CCGTGGTGTCATCGCACTGTG	0.428									Familial Paragangliomas																													ENST00000264932.6		NA																	0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(703-705)Atc>Ttc		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						99.0	91.0	94.0					5																	228381		2203	4300	6503	SO:0001583	missense	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:228381A>T	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.703A>T	5.37:g.228381A>T	ENSP00000264932:p.Ile235Phe	False	False		Somatic	0				SDHA_ENST00000504309.1_Missense_Mutation_p.I235F|SDHA_ENST00000510361.1_Missense_Mutation_p.I187F	p.I235F	NM_004168.2	NP_004159.2	WXS	Illumina HiSeq	Phase_I	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		6	818	+			235					A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.703A>T	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	a	19.19	3.779259	0.70107	.	.	ENSG00000073578	ENST00000264932;ENST00000504309;ENST00000510361	T;T;T	0.70869	-0.52;-0.52;-0.52	5.23	5.23	0.72850	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.136916	0.47455	U	0.000240	D	0.82774	0.5110	M	0.81942	2.565	0.80722	D	1	D;D;D;D;D	0.69078	0.98;0.993;0.997;0.997;0.997	P;D;P;D;D	0.63703	0.883;0.917;0.88;0.917;0.917	D	0.85499	0.1190	10	0.87932	D	0	.	13.4155	0.60966	1.0:0.0:0.0:0.0	.	187;235;235;235;241	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	F	235;235;187	ENSP00000264932:I235F;ENSP00000426514:I235F;ENSP00000427703:I187F	ENSP00000264932:I235F	I	+	1	0	SDHA	281381	1.000000	0.71417	0.042000	0.18584	0.341000	0.28922	8.895000	0.92512	2.127000	0.65507	0.524000	0.50904	ATC		0.428	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	0	NM_004168		5:228381
KIAA0556	23247	broad.mit.edu	37	16	27761391	27761391	+	Missense_Mutation	SNP	G	G	T			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr16:27761391G>T	ENST00000261588.4	+	16	3129	c.3110G>T	c.(3109-3111)gGg>gTg	p.G1037V		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1037						extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						CTCATCGACGGGGTGAACAGG	0.552																																						ENST00000261588.4		NA																	0				breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						c.(3109-3111)gGg>gTg		KIAA0556							75.0	66.0	69.0					16																	27761391		2197	4300	6497	SO:0001583	missense	23247							g.chr16:27761391G>T	AB011128	CCDS32415.1	16p12.1-p11.2	2012-11-30			ENSG00000047578	ENSG00000047578			29068	protein-coding gene	gene with protein product						9628581	Standard	NM_015202		Approved		uc002dow.3	O60303	OTTHUMG00000176780	ENST00000261588.4:c.3110G>T	16.37:g.27761391G>T	ENSP00000261588:p.Gly1037Val	True	False		Somatic	0					p.G1037V	NM_015202.2	NP_056017.2	WXS	Illumina HiSeq	Phase_I	O60303	K0556_HUMAN			16	3129	+			1037					A7E2C2	Missense_Mutation	SNP	ENST00000261588.4	37	c.3110G>T	CCDS32415.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.936532	0.73442	.	.	ENSG00000047578	ENST00000261588	T	0.24908	1.83	5.22	5.22	0.72569	.	0.052178	0.85682	D	0.000000	T	0.64681	0.2620	H	0.94698	3.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.75869	-0.3165	10	0.87932	D	0	-20.8399	18.7608	0.91849	0.0:0.0:1.0:0.0	.	1037	O60303	K0556_HUMAN	V	1037	ENSP00000261588:G1037V	ENSP00000261588:G1037V	G	+	2	0	KIAA0556	27668892	1.000000	0.71417	0.995000	0.50966	0.686000	0.39977	7.850000	0.86915	2.578000	0.87016	0.655000	0.94253	GGG		0.552	KIAA0556-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433724.1	0	NM_015202		16:27761391
TSPYL6	388951	broad.mit.edu	37	2	54482353	54482353	+	Silent	SNP	C	C	A			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:54482353C>A	ENST00000317802.7	-	1	1056	c.936G>T	c.(934-936)gtG>gtT	p.V312V	ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000394666.3_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	312					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						TGACCTCATACACCTTTACAA	0.473																																						ENST00000317802.7		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						c.(934-936)gtG>gtT		TSPY-like 6							91.0	90.0	90.0					2																	54482353		2074	4244	6318	SO:0001819	synonymous_variant	388951				nucleosome assembly	nucleus		g.chr2:54482353C>A	AK097417	CCDS42682.1	2p16.3	2007-10-22			ENSG00000178021	ENSG00000178021			14521	protein-coding gene	gene with protein product							Standard	NM_001003937		Approved		uc002rxr.2	Q8N831	OTTHUMG00000151823	ENST00000317802.7:c.936G>T	2.37:g.54482353C>A		False	False		Somatic	0				ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron|ACYP2_ENST00000607452.1_Intron	p.V312V	NM_001003937.2	NP_001003937.2	WXS	Illumina HiSeq	Phase_I	Q8N831	TSYL6_HUMAN			1	1056	-			312					Q6NUJ3	Silent	SNP	ENST00000317802.7	37	c.936G>T	CCDS42682.1																																																																																				0.473	TSPYL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324069.3	0	XM_371494		2:54482353
CEP128	145508	broad.mit.edu	37	14	81223250	81223250	+	Silent	SNP	A	A	G			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr14:81223250A>G	ENST00000555265.1	-	18	2974	c.2599T>C	c.(2599-2601)Tta>Cta	p.L867L	CEP128_ENST00000281129.3_Silent_p.L867L			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	867						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CTTTCTGCTAACCAGCGATGT	0.294																																						ENST00000555265.1		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(2599-2601)Tta>Cta		centrosomal protein 128kDa							66.0	66.0	66.0					14																	81223250		2203	4297	6500	SO:0001819	synonymous_variant	145508					centriole|spindle pole		g.chr14:81223250A>G	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.2599T>C	14.37:g.81223250A>G		False	False		Somatic	0				CEP128_ENST00000281129.3_Silent_p.L867L	p.L867L			WXS	Illumina HiSeq	Phase_I	Q6ZU80	CE128_HUMAN			18	2974	-			867					B9EK52|Q86X97|Q96ML4	Silent	SNP	ENST00000555265.1	37	c.2599T>C	CCDS32130.1																																																																																				0.294	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	0	NM_152446		14:81223250
ZBED9	114821	broad.mit.edu	37	6	28543263	28543263	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr6:28543263G>A	ENST00000452236.2	-	3	1836	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTTAATGACCGCAAAAAAGTT	0.373																																						ENST00000452236.2		NA																	0				NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						c.(1219-1221)Cgg>Tgg		SCAN domain containing 3							47.0	50.0	49.0					6																	28543263		2200	4300	6500	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28543263G>A																												ENST00000452236.2:c.1219C>T	6.37:g.28543263G>A	ENSP00000395259:p.Arg407Trp	False	False		Somatic	0					p.R407W	NM_052923.1	NP_443155.1	WXS	Illumina HiSeq	Phase_I	Q6R2W3	SCND3_HUMAN			3	1836	-			407			Integrase catalytic.			Missense_Mutation	SNP	ENST00000452236.2	37	c.1219C>T	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739153	0.49045	.	.	ENSG00000232040	ENST00000452236	T	0.41065	1.01	3.45	1.47	0.22746	Integrase, catalytic core (2);Ribonuclease H-like (1);	.	.	.	.	T	0.45538	0.1347	M	0.71581	2.175	0.27885	N	0.939548	D	0.89917	1.0	D	0.75020	0.985	T	0.29027	-1.0025	9	0.87932	D	0	.	9.1527	0.36973	0.0:0.0:0.3848:0.6152	.	407	Q6R2W3	SCND3_HUMAN	W	407	ENSP00000395259:R407W	ENSP00000395259:R407W	R	-	1	2	SCAND3	28651242	0.490000	0.26012	0.999000	0.59377	0.981000	0.71138	0.152000	0.16302	0.208000	0.20626	0.655000	0.94253	CGG		0.373	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3	0			6:28543263
PLIN4	729359	broad.mit.edu	37	19	4513137	4513137	+	Missense_Mutation	SNP	T	T	C			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr19:4513137T>C	ENST00000301286.3	-	3	792	c.793A>G	c.(793-795)Atg>Gtg	p.M265V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	265	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GCCACATTCATGGCACCAGTC	0.547																																						ENST00000301286.3		NA																	0				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						c.(793-795)Atg>Gtg		perilipin 4							27.0	29.0	29.0					19																	4513137		1851	4021	5872	SO:0001583	missense	729359					lipid particle|plasma membrane		g.chr19:4513137T>C	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.793A>G	19.37:g.4513137T>C	ENSP00000301286:p.Met265Val	False	False		Somatic	0					p.M265V	NM_001080400.1	NP_001073869.1	WXS	Illumina HiSeq	Phase_I	Q96Q06	PLIN4_HUMAN			3	792	-			265			27 X 33 AA approximate tandem repeat.		A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.793A>G	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	T	0.016	-1.528953	0.00951	.	.	ENSG00000167676	ENST00000301286	T	0.02763	4.17	4.18	-6.98	0.01611	.	0.855682	0.10311	N	0.690026	T	0.01730	0.0055	N	0.16743	0.435	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48068	-0.9067	10	0.18276	T	0.48	-8.0672	11.7315	0.51739	0.0:0.3089:0.0:0.6911	.	265	Q96Q06	PLIN4_HUMAN	V	265	ENSP00000301286:M265V	ENSP00000301286:M265V	M	-	1	0	PLIN4	4464137	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	-4.697000	0.00197	-1.126000	0.02929	-1.271000	0.01417	ATG		0.547	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	0	XM_170901		19:4513137
FNDC5	252995	broad.mit.edu	37	1	33330257	33330257	+	Missense_Mutation	SNP	G	G	T			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr1:33330257G>T	ENST00000496770.1	-	5	629	c.416C>A	c.(415-417)gCa>gAa	p.A139E	FNDC5_ENST00000481487.1_Intron|FNDC5_ENST00000373471.3_Intron|FNDC5_ENST00000609187.1_Intron	NM_001171941.1	NP_001165412.1	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	0					positive regulation of brown fat cell differentiation (GO:0090336)|response to muscle activity (GO:0014850)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCCAGGTCTTGCCCTCACCTT	0.602																																						ENST00000496770.1		NA																	0				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5						c.(415-417)gCa>gAa		fibronectin type III domain containing 5							115.0	99.0	105.0					1																	33330257		2203	4300	6503	SO:0001583	missense	252995					integral to membrane|peroxisomal membrane		g.chr1:33330257G>T	AK092102	CCDS369.1, CCDS369.2, CCDS65483.1	1p34.3	2013-10-16			ENSG00000160097	ENSG00000160097		"""Fibronectin type III domain containing"""	20240	protein-coding gene	gene with protein product	"""irisin"""	611906				12384288, 22237023, 24120943	Standard	NM_153756		Approved	FRCP2	uc001bwg.3	Q8NAU1	OTTHUMG00000004015	ENST00000496770.1:c.416C>A	1.37:g.33330257G>T	ENSP00000476320:p.Ala139Glu	True	False		Somatic	0				FNDC5_ENST00000609187.1_Intron|FNDC5_ENST00000373471.3_Intron|FNDC5_ENST00000481487.1_Intron	p.A139E	NM_001171941.1	NP_001165412.1	WXS	Illumina HiSeq	Phase_I	Q8NAU1	FNDC5_HUMAN			5	629	-		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)	NA					A6NMC9|D3DPQ6|Q6P6D9|Q7Z676	Missense_Mutation	SNP	ENST00000496770.1	37	c.416C>A																																																																																					0.602	FNDC5-006	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000011472.2	0	NM_153756		1:33330257
CEP128	145508	broad.mit.edu	37	14	81259286	81259286	+	Missense_Mutation	SNP	G	G	A	rs367862042		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr14:81259286G>A	ENST00000555265.1	-	14	1753	c.1378C>T	c.(1378-1380)Cgg>Tgg	p.R460W	CEP128_ENST00000281129.3_Missense_Mutation_p.R460W			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	460						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						CTGAGGTACCGCTCAGCCTGC	0.542																																						ENST00000555265.1		NA																	0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						c.(1378-1380)Cgg>Tgg		centrosomal protein 128kDa		G	TRP/ARG	0,4406		0,0,2203	159.0	140.0	146.0		1378	4.5	0.9	14		146	2,8598	2.2+/-6.3	0,2,4298	no	missense	CEP128	NM_152446.3	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	460/1095	81259286	2,13004	2203	4300	6503	SO:0001583	missense	145508					centriole|spindle pole		g.chr14:81259286G>A	AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1378C>T	14.37:g.81259286G>A	ENSP00000451162:p.Arg460Trp	False	False		Somatic	0				CEP128_ENST00000281129.3_Missense_Mutation_p.R460W	p.R460W			WXS	Illumina HiSeq	Phase_I	Q6ZU80	CE128_HUMAN			14	1753	-			460					B9EK52|Q86X97|Q96ML4	Missense_Mutation	SNP	ENST00000555265.1	37	c.1378C>T	CCDS32130.1	.	.	.	.	.	.	.	.	.	.	G	18.33	3.600763	0.66332	0.0	2.33E-4	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	T;T	0.35236	1.32;1.32	5.47	4.54	0.55810	.	0.568535	0.14876	N	0.293264	T	0.41282	0.1152	L	0.43152	1.355	0.80722	D	1	D	0.64830	0.994	P	0.50270	0.636	T	0.32214	-0.9915	10	0.72032	D	0.01	.	13.1435	0.59448	0.0:0.0:0.6046:0.3954	.	460	Q6ZU80	CE128_HUMAN	W	460	ENSP00000281129:R460W;ENSP00000451162:R460W	ENSP00000281129:R460W	R	-	1	2	CEP128	80329039	0.007000	0.16637	0.950000	0.38849	0.893000	0.52053	0.750000	0.26334	2.562000	0.86427	0.650000	0.86243	CGG		0.542	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413415.1	0	NM_152446		14:81259286
ZBTB47	92999	broad.mit.edu	37	3	42703100	42703100	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr3:42703100G>A	ENST00000232974.6	+	3	1878	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T	ZBTB47_ENST00000505904.1_Missense_Mutation_p.A79T|ZBTB47_ENST00000457842.3_Missense_Mutation_p.A157T			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	533					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		CTACACCATGGCCCACGTGCG	0.522																																						ENST00000457842.3		NA																	0				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13						c.(469-471)Gcc>Acc		zinc finger and BTB domain containing 47							62.0	62.0	62.0					3																	42703100		2010	4192	6202	SO:0001583	missense	92999				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr3:42703100G>A	AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26955	protein-coding gene	gene with protein product			"""zinc finger protein 651"""	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.1597G>A	3.37:g.42703100G>A	ENSP00000232974:p.Ala533Thr	True	False		Somatic	0				ZBTB47_ENST00000232974.6_Missense_Mutation_p.A533T|ZBTB47_ENST00000505904.1_Missense_Mutation_p.A79T	p.A157T	NM_145166.3	NP_660149.2	WXS	Illumina HiSeq	Phase_I	Q9UFB7	ZBT47_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.216)	3	1878	+			157					H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	Missense_Mutation	SNP	ENST00000232974.6	37	c.469G>A	CCDS46805.2	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313988	0.81358	.	.	ENSG00000114853	ENST00000232974;ENST00000542870;ENST00000457842;ENST00000505904	T;T;T	0.07567	3.18;3.18;3.18	4.84	4.84	0.62591	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.30541	0.0768	M	0.75447	2.3	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.03514	-1.1029	10	0.52906	T	0.07	-29.8628	17.9286	0.88991	0.0:0.0:1.0:0.0	.	157	Q9UFB7	ZBT47_HUMAN	T	533;432;157;79	ENSP00000232974:A533T;ENSP00000411491:A157T;ENSP00000420968:A79T	ENSP00000232974:A533T	A	+	1	0	ZBTB47	42678104	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	9.785000	0.99042	2.230000	0.72887	0.561000	0.74099	GCC		0.522	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343485.3	0	NM_145166		3:42703100
PCNT	5116	broad.mit.edu	37	21	47856946	47856946	+	Silent	SNP	C	C	T			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr21:47856946C>T	ENST00000359568.5	+	40	9158	c.9051C>T	c.(9049-9051)caC>caT	p.H3017H	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	3017	Interaction with NEK2.				brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CTTTACTGCACACGTTGGAGG	0.557																																						ENST00000359568.5		NA																	0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(9049-9051)caC>caT		pericentrin							109.0	91.0	97.0					21																	47856946		2203	4300	6503	SO:0001819	synonymous_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47856946C>T	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.9051C>T	21.37:g.47856946C>T		False	False		Somatic	0				PCNT_ENST00000480896.1_3'UTR	p.H3017H	NM_006031.5	NP_006022.3	WXS	Illumina HiSeq	Phase_I	O95613	PCNT_HUMAN			40	9158	+	Breast(49;0.112)		3017			Interaction with NEK2.		O43152|Q7Z7C9	Silent	SNP	ENST00000359568.5	37	c.9051C>T	CCDS33592.1																																																																																				0.557	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	0	NM_006031		21:47856946
ZNF831	128611	broad.mit.edu	37	20	57767447	57767447	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr20:57767447C>T	ENST00000371030.2	+	1	1373	c.1373C>T	c.(1372-1374)gCg>gTg	p.A458V		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	458							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GACATCCGCGCGCTGGAGCCA	0.677																																						ENST00000371030.2		NA																	0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125						c.(1372-1374)gCg>gTg		zinc finger protein 831							31.0	39.0	36.0					20																	57767447		2047	4173	6220	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57767447C>T	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.1373C>T	20.37:g.57767447C>T	ENSP00000360069:p.Ala458Val	True	False		Somatic	0					p.A458V	NM_178457.1	NP_848552.1	WXS	Illumina HiSeq	Phase_I	Q5JPB2	ZN831_HUMAN			1	1373	+	all_lung(29;0.0085)		458					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.1373C>T	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	C	12.15	1.850162	0.32699	.	.	ENSG00000124203	ENST00000371030	T	0.04809	3.55	5.21	5.21	0.72293	.	.	.	.	.	T	0.14013	0.0339	L	0.47716	1.5	0.09310	N	0.999997	D	0.76494	0.999	P	0.56788	0.806	T	0.03060	-1.1077	9	0.62326	D	0.03	-11.9417	17.7439	0.88414	0.0:1.0:0.0:0.0	.	458	Q5JPB2	ZN831_HUMAN	V	458	ENSP00000360069:A458V	ENSP00000360069:A458V	A	+	2	0	ZNF831	57200842	0.910000	0.30920	0.257000	0.24404	0.026000	0.11368	4.059000	0.57470	2.423000	0.82170	0.655000	0.94253	GCG		0.677	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	0	NM_178457		20:57767447
ARHGAP31	57514	broad.mit.edu	37	3	119101232	119101232	+	Silent	SNP	G	G	A			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr3:119101232G>A	ENST00000264245.4	+	5	1057	c.525G>A	c.(523-525)gcG>gcA	p.A175A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	175	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	GTPase activator activity (GO:0005096)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TGGTGTGGGCGCCAAACCTCC	0.557																																					Pancreas(7;176 297 5394 51128 51241)	ENST00000264245.4		NA																	0				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						c.(523-525)gcG>gcA		Rho GTPase activating protein 31							61.0	71.0	68.0					3																	119101232		1942	4142	6084	SO:0001819	synonymous_variant	57514				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity	g.chr3:119101232G>A		CCDS43135.1	3q13.33	2011-06-29			ENSG00000031081	ENSG00000031081		"""Rho GTPase activating proteins"""	29216	protein-coding gene	gene with protein product		610911				9786927, 12819203, 16519628	Standard	NM_020754		Approved	CDGAP	uc003ecj.4	Q2M1Z3	OTTHUMG00000159362	ENST00000264245.4:c.525G>A	3.37:g.119101232G>A		False	False		Somatic	0					p.A175A	NM_020754.2	NP_065805.2	WXS	Illumina HiSeq	Phase_I	Q2M1Z3	RHG31_HUMAN			5	1057	+			175			Rho-GAP.		Q9ULL6	Silent	SNP	ENST00000264245.4	37	c.525G>A	CCDS43135.1																																																																																				0.557	ARHGAP31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354942.2	0			3:119101232
CDKN2A	1029	broad.mit.edu	37	9	21974760	21974760	+	Missense_Mutation	SNP	C	C	A			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr9:21974760C>A	ENST00000304494.5	-	1	337	c.67G>T	c.(67-69)Ggt>Tgt	p.G23C	CDKN2A_ENST00000361570.3_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.G23C|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.G23C|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000498628.2_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.G23C	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	23			G -> D (in a pancreas tumor and a melanoma; loss of CDK4 binding).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(23)|p.G23S(1)|p.0(1)|p.R22fs*14(1)|p.S12fs*20(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TCTACCCGACCCCGGGCCGCG	0.741		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												ENST00000304494.5		17																	1342	Whole gene deletion(1316)|Unknown(23)|Deletion - Frameshift(2)|Substitution - Missense(1)	p.0?(1315)|p.?(23)|p.G23S(1)|p.0(1)|p.R22fs*14(1)|p.S12fs*20(1)	haematopoietic_and_lymphoid_tissue(279)|skin(169)|central_nervous_system(163)|lung(146)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(52)|oesophagus(50)|upper_aerodigestive_tract(47)|ovary(34)|kidney(31)|breast(30)|pancreas(29)|thyroid(14)|biliary_tract(13)|NS(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199	GRCh37	CM024657|CM056560|CM056561	CDKN2A	M		c.(67-69)Ggt>Tgt		cyclin-dependent kinase inhibitor 2A							15.0	21.0	19.0					9																	21974760		1886	3851	5737	SO:0001583	missense	1029				cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	g.chr9:21974760C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.67G>T	9.37:g.21974760C>A	ENSP00000307101:p.Gly23Cys	True	False	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)	Somatic	0				CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.G23C|CDKN2A_ENST00000498124.1_Missense_Mutation_p.G23C|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.G23C	p.G23C	NM_000077.4	NP_000068.1	WXS	Illumina HiSeq	Phase_I	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	1	337	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	23		G -> D (in a pancreas tumor and a melanoma; loss of CDK4 binding).			A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	c.67G>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018113	0.93404	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	T;T	0.75154	-0.91;-0.91	4.89	4.89	0.63831	Ankyrin repeat-containing domain (3);	.	.	.	.	D	0.90947	0.7154	H	0.98802	4.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.92856	0.6301	9	0.87932	D	0	.	10.8616	0.46829	0.0:0.9118:0.0:0.0882	.	23;23	P42771;G3XAG3	CD2A1_HUMAN;.	C	23	ENSP00000307101:G23C;ENSP00000394932:G23C	ENSP00000307101:G23C	G	-	1	0	CDKN2A	21964760	0.983000	0.35010	0.835000	0.33067	0.415000	0.31203	3.865000	0.56033	2.681000	0.91329	0.655000	0.94253	GGT		0.741	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	0	NM_000077		9:21974760
EXOC7	23265	broad.mit.edu	37	17	74097340	74097340	+	Intron	SNP	C	C	T			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr17:74097340C>T	ENST00000335146.7	-	4	471				EXOC7_ENST00000467929.2_Intron|EXOC7_ENST00000411744.2_Intron|EXOC7_ENST00000406660.3_Silent_p.P143P|EXOC7_ENST00000589210.1_Intron|EXOC7_ENST00000332065.5_Intron|EXOC7_ENST00000607838.1_Intron|EXOC7_ENST00000405575.4_Intron			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7						cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CGTTATTCTGCGGACCCCTTA	0.512																																						ENST00000406660.3		NA																	0				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14						c.(427-429)ccG>ccA		exocyst complex component 7							117.0	99.0	105.0					17																	74097340		2203	4300	6503	SO:0001627	intron_variant	23265				exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding	g.chr17:74097340C>T	BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.417+11G>A	17.37:g.74097340C>T		False	False		Somatic	0				EXOC7_ENST00000411744.2_Intron|EXOC7_ENST00000589210.1_Intron|EXOC7_ENST00000607838.1_Intron|EXOC7_ENST00000335146.7_Intron|EXOC7_ENST00000332065.5_Intron|EXOC7_ENST00000467929.2_Intron|EXOC7_ENST00000405575.4_Intron	p.P143P	NM_001282314.1	NP_001269243.1	WXS	Illumina HiSeq	Phase_I	Q9UPT5	EXOC7_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.187)		4	470	-			0					B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Silent	SNP	ENST00000335146.7	37	c.429G>A	CCDS45782.1																																																																																				0.512	EXOC7-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000319768.2	0	NM_015219		17:74097340
HGF	3082	broad.mit.edu	37	7	81358937	81358937	+	Nonsense_Mutation	SNP	C	C	A			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr7:81358937C>A	ENST00000222390.5	-	8	1250	c.1024G>T	c.(1024-1026)Gaa>Taa	p.E342*	HGF_ENST00000457544.2_Nonsense_Mutation_p.E337*	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	342	Kringle 3. {ECO:0000255|PROSITE- ProRule:PRU00121}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						TTGAAATTTTCAGGAGTCATG	0.418																																						ENST00000222390.5		NA																	0				NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						c.(1024-1026)Gaa>Taa		hepatocyte growth factor (hepapoietin A; scatter factor)							126.0	116.0	119.0					7																	81358937		2203	4300	6503	SO:0001587	stop_gained	3082				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity	g.chr7:81358937C>A		CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.1024G>T	7.37:g.81358937C>A	ENSP00000222390:p.Glu342*	True	False		Somatic	0				HGF_ENST00000457544.2_Nonsense_Mutation_p.E337*	p.E342*	NM_000601.4	NP_000592.3	WXS	Illumina HiSeq	Phase_I	P14210	HGF_HUMAN			8	1250	-			342			Kringle 3.		A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Nonsense_Mutation	SNP	ENST00000222390.5	37	c.1024G>T	CCDS5597.1	.	.	.	.	.	.	.	.	.	.	C	38	6.828463	0.97869	.	.	ENSG00000019991	ENST00000222390;ENST00000457544	.	.	.	5.76	5.76	0.90799	.	0.095331	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	19.9767	0.97312	0.0:1.0:0.0:0.0	.	.	.	.	X	342;337	.	ENSP00000222390:E342X	E	-	1	0	HGF	81196873	0.982000	0.34865	1.000000	0.80357	0.997000	0.91878	2.444000	0.44890	2.702000	0.92279	0.655000	0.94253	GAA		0.418	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253315.2	0	NM_000601		7:81358937
PRKACB	5567	broad.mit.edu	37	1	84668430	84668430	+	Missense_Mutation	SNP	A	A	G			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr1:84668430A>G	ENST00000370689.2	+	8	971	c.707A>G	c.(706-708)tAt>tGt	p.Y236C	PRKACB_ENST00000394838.2_Missense_Mutation_p.Y243C|PRKACB_ENST00000394839.2_Missense_Mutation_p.Y206C|PRKACB_ENST00000370680.1_Missense_Mutation_p.Y242C|PRKACB_ENST00000370682.3_Missense_Mutation_p.Y240C|PRKACB_ENST00000370685.3_Missense_Mutation_p.Y283C|PRKACB_ENST00000370688.3_Missense_Mutation_p.Y236C	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	236	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|negative regulation of meiotic cell cycle (GO:0051447)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of protein processing (GO:0070613)|response to clozapine (GO:0097338)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|magnesium ion binding (GO:0000287)|ubiquitin protein ligase binding (GO:0031625)			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		GCAGCTGGCTATCCCCCATTC	0.368																																						ENST00000370689.2		NA																	0				breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16						c.(706-708)tAt>tGt		protein kinase, cAMP-dependent, catalytic, beta							141.0	137.0	138.0					1																	84668430		2203	4300	6503	SO:0001583	missense	5567				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding	g.chr1:84668430A>G	BC035058	CCDS691.1, CCDS692.1, CCDS693.1, CCDS55610.1, CCDS55611.1, CCDS72812.1, CCDS72813.1, CCDS72814.1, CCDS72815.1, CCDS72816.1	1p36.1	2012-10-02			ENSG00000142875	ENSG00000142875	2.7.11.1		9381	protein-coding gene	gene with protein product		176892					Standard	XM_005271016		Approved	PKACb	uc001djl.3	P22694	OTTHUMG00000009975	ENST00000370689.2:c.707A>G	1.37:g.84668430A>G	ENSP00000359723:p.Tyr236Cys	False	False		Somatic	0				PRKACB_ENST00000394839.2_Missense_Mutation_p.Y206C|PRKACB_ENST00000370682.3_Missense_Mutation_p.Y240C|PRKACB_ENST00000370685.3_Missense_Mutation_p.Y283C|PRKACB_ENST00000370680.1_Missense_Mutation_p.Y242C|PRKACB_ENST00000394838.2_Missense_Mutation_p.Y243C|PRKACB_ENST00000370688.3_Missense_Mutation_p.Y236C	p.Y236C	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	WXS	Illumina HiSeq	Phase_I	P22694	KAPCB_HUMAN		all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)	8	971	+			236			Protein kinase.		B1APG4|B4DKB0|B4E2Q1|Q14VH1|Q59GC0|Q5BNE9|Q5BNF0|Q5BNF1|Q5BNF2|Q5BNF3|Q5CZ92|Q5T1K3|Q7Z3M1|Q8IYR5|Q8IZQ0|Q96B09	Missense_Mutation	SNP	ENST00000370689.2	37	c.707A>G	CCDS691.1	.	.	.	.	.	.	.	.	.	.	A	24.7	4.558215	0.86231	.	.	ENSG00000142875	ENST00000370689;ENST00000370688;ENST00000370685;ENST00000370684;ENST00000394838;ENST00000370682;ENST00000370679;ENST00000370680;ENST00000394839;ENST00000370681	T;T;T;T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14;-0.14	5.54	5.54	0.83059	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.61677	0.2366	N	0.21545	0.675	0.80722	D	1	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;0.998;0.999;0.996;0.991;0.999;0.995;0.999;0.994;1.0;0.99	D;D;D;D;P;D;D;D;D;D;D	0.91635	0.999;0.957;0.972;0.972;0.886;0.953;0.953;0.953;0.972;0.999;0.933	T	0.69767	-0.5056	10	0.87932	D	0	-9.6973	15.9801	0.80102	1.0:0.0:0.0:0.0	.	236;224;243;242;206;242;240;283;283;236;236	B2RB89;P22694-3;B4DKB0;B1APG3;B1APG4;P22694-6;P22694-7;P22694-2;B4E2L0;P22694;P22694-8	.;.;.;.;.;.;.;.;.;KAPCB_HUMAN;.	C	236;236;283;224;243;240;242;242;206;198	ENSP00000359723:Y236C;ENSP00000359722:Y236C;ENSP00000359719:Y283C;ENSP00000359718:Y224C;ENSP00000378314:Y243C;ENSP00000359716:Y240C;ENSP00000359714:Y242C;ENSP00000378315:Y206C	ENSP00000359713:Y242C	Y	+	2	0	PRKACB	84441018	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.229000	0.95273	2.230000	0.72887	0.528000	0.53228	TAT		0.368	PRKACB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000027641.1	0	NM_182948		1:84668430
PLEKHG3	26030	broad.mit.edu	37	14	65197580	65197580	+	Silent	SNP	G	G	A			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr14:65197580G>A	ENST00000394691.1	+	6	777	c.630G>A	c.(628-630)cgG>cgA	p.R210R	PLEKHG3_ENST00000247226.7_Silent_p.R154R			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	210	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		TTCGGGACCGGCAGGAGCTGC	0.642																																						ENST00000247226.7		NA																	0				endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29						c.(460-462)cgG>cgA		pleckstrin homology domain containing, family G (with RhoGef domain) member 3							33.0	36.0	35.0					14																	65197580		2203	4300	6503	SO:0001819	synonymous_variant	26030				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr14:65197580G>A	AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.630G>A	14.37:g.65197580G>A		False	False		Somatic	0				PLEKHG3_ENST00000394691.1_Silent_p.R210R	p.R154R	NM_015549.1	NP_056364.1	WXS	Illumina HiSeq	Phase_I	A1L390	PKHG3_HUMAN		all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)	4	770	+			210			DH.		A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Silent	SNP	ENST00000394691.1	37	c.462G>A																																																																																					0.642	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000412028.1	0	NM_015549		14:65197580
ZNF773	374928	broad.mit.edu	37	19	58017973	58017973	+	Silent	SNP	G	G	A	rs149516480		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr19:58017973G>A	ENST00000282292.4	+	4	650	c.510G>A	c.(508-510)acG>acA	p.T170T	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Silent_p.T169T|ZNF773_ENST00000599847.1_Intron	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	170					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		TGACTCACACGGGAGAGAAGT	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		21189	0.0		0.0	False		,,,				2504	0.001					ENST00000282292.4		NA																	0				breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(508-510)acG>acA		zinc finger protein 773		G		2,4404	2.1+/-5.4	0,2,2201	49.0	49.0	49.0		510	-2.4	0.0	19	dbSNP_134	49	4,8596	2.2+/-6.3	0,4,4296	no	coding-synonymous	ZNF773	NM_198542.1		0,6,6497	AA,AG,GG		0.0465,0.0454,0.0461		170/443	58017973	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	374928				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58017973G>A	BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.510G>A	19.37:g.58017973G>A		True	False		Somatic	0				ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000598770.1_Silent_p.T169T	p.T170T	NM_198542.1	NP_940944.1	WXS	Illumina HiSeq	Phase_I	Q6PK81	ZN773_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)	4	650	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	170					Q96DL8	Silent	SNP	ENST00000282292.4	37	c.510G>A	CCDS33134.1																																																																																				0.488	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000466475.1	0	NM_198542		19:58017973
SDCBP	6386	broad.mit.edu	37	8	59484848	59484848	+	Missense_Mutation	SNP	T	T	C			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr8:59484848T>C	ENST00000260130.4	+	4	365	c.215T>C	c.(214-216)gTg>gCg	p.V72A	SDCBP_ENST00000522243.1_3'UTR|SDCBP_ENST00000523483.1_Missense_Mutation_p.V93A|SDCBP_ENST00000413219.2_Missense_Mutation_p.V72A|SDCBP_ENST00000520168.1_Missense_Mutation_p.V72A|SDCBP_ENST00000447182.2_Missense_Mutation_p.V72A|SDCBP_ENST00000447267.2_Missense_Mutation_p.V72A|SDCBP_ENST00000422546.2_Missense_Mutation_p.V72A|SDCBP_ENST00000424270.2_Missense_Mutation_p.V66A	NM_001007068.1|NM_001007069.1|NM_005625.3	NP_001007069.1|NP_001007070.1|NP_005616.2	O00560	SDCB1_HUMAN	syndecan binding protein (syntenin)	72					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|intracellular signal transduction (GO:0035556)|positive regulation of JNK cascade (GO:0046330)|positive regulation of phosphorylation (GO:0042327)|protein targeting to membrane (GO:0006612)|Ras protein signal transduction (GO:0007265)|substrate-dependent cell migration, cell extension (GO:0006930)|synaptic transmission (GO:0007268)	adherens junction (GO:0005912)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-5 receptor complex (GO:0005895)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	cytoskeletal adaptor activity (GO:0008093)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|interleukin-5 receptor binding (GO:0005137)|protein heterodimerization activity (GO:0046982)|protein N-terminus binding (GO:0047485)|syndecan binding (GO:0045545)			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				AATGTGGCCGTGGTTTCTGGT	0.363																																						ENST00000523483.1		NA																	0				breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8						c.(277-279)gTg>gCg		syndecan binding protein (syntenin)							132.0	142.0	138.0					8																	59484848		2203	4300	6503	SO:0001583	missense	6386				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding	g.chr8:59484848T>C	AF000652	CCDS6172.1, CCDS47862.1, CCDS47863.1	8q12.1	2012-12-04			ENSG00000137575	ENSG00000137575			10662	protein-coding gene	gene with protein product		602217				9391086	Standard	NM_001007067		Approved	SYCL	uc003xtq.3	O00560	OTTHUMG00000164303	ENST00000260130.4:c.215T>C	8.37:g.59484848T>C	ENSP00000260130:p.Val72Ala	False	False		Somatic	0				SDCBP_ENST00000447267.2_Missense_Mutation_p.V72A|SDCBP_ENST00000447182.2_Missense_Mutation_p.V72A|SDCBP_ENST00000260130.4_Missense_Mutation_p.V72A|SDCBP_ENST00000413219.2_Missense_Mutation_p.V72A|SDCBP_ENST00000522243.1_3'UTR|SDCBP_ENST00000520168.1_Missense_Mutation_p.V72A|SDCBP_ENST00000422546.2_Missense_Mutation_p.V72A|SDCBP_ENST00000424270.2_Missense_Mutation_p.V66A	p.V93A			WXS	Illumina HiSeq	Phase_I	O00560	SDCB1_HUMAN			5	1792	+		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	72					B2R5Q7|B4DUH3|B7ZLN2|O00173|O43391|Q14CP2	Missense_Mutation	SNP	ENST00000260130.4	37	c.278T>C	CCDS6172.1	.	.	.	.	.	.	.	.	.	.	T	2.468	-0.322502	0.05350	.	.	ENSG00000137575	ENST00000260130;ENST00000422546;ENST00000447182;ENST00000413219;ENST00000424270;ENST00000523483;ENST00000520168;ENST00000447267	T;T;T;T;T;T;T;T	0.34859	2.84;2.78;2.78;2.84;2.82;2.76;2.77;1.34	5.44	5.44	0.79542	.	0.878949	0.10248	N	0.697502	T	0.32164	0.0820	N	0.24115	0.695	0.29452	N	0.858412	B;B;B;B	0.22541	0.0;0.071;0.0;0.0	B;B;B;B	0.31946	0.001;0.138;0.006;0.001	T	0.26503	-1.0101	9	.	.	.	0.0	15.7909	0.78364	0.0:0.0:0.0:1.0	.	72;93;66;72	B4DHN5;G5EA09;O00560-3;O00560	.;.;.;SDCB1_HUMAN	A	72;72;72;72;66;93;72;72	ENSP00000260130:V72A;ENSP00000391687:V72A;ENSP00000409288:V72A;ENSP00000411771:V72A;ENSP00000395351:V66A;ENSP00000428184:V93A;ENSP00000430730:V72A;ENSP00000397820:V72A	.	V	+	2	0	SDCBP	59647402	1.000000	0.71417	0.014000	0.15608	0.004000	0.04260	6.386000	0.73186	2.183000	0.69458	0.533000	0.62120	GTG		0.363	SDCBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378193.1	0	NM_005625		8:59484848
INO80	54617	broad.mit.edu	37	15	41341604	41341604	+	Silent	SNP	C	C	T	rs181458553		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr15:41341604C>T	ENST00000361937.3	-	21	2881	c.2457G>A	c.(2455-2457)ccG>ccA	p.P819P	INO80_ENST00000401393.3_Silent_p.P819P			Q9ULG1	INO80_HUMAN	INO80 complex subunit	819	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CAAATAACTCCGGGTGATTAC	0.408													C|||	1	0.000199681	0.0	0.0	5008	,	,		20105	0.001		0.0	False		,,,				2504	0.0					ENST00000361937.3		NA																	0				NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(2455-2457)ccG>ccA		INO80 complex subunit		C		1,4405	2.1+/-5.4	0,1,2202	108.0	97.0	101.0		2457	0.9	1.0	15		101	0,8600		0,0,4300	no	coding-synonymous	INO80	NM_017553.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		819/1557	41341604	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54617				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity	g.chr15:41341604C>T	AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.2457G>A	15.37:g.41341604C>T		True	False		Somatic	0				INO80_ENST00000401393.3_Silent_p.P819P	p.P819P			WXS	Illumina HiSeq	Phase_I	Q9ULG1	INO80_HUMAN			21	2881	-			819			Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.		A6H8X4|Q9NTG6	Silent	SNP	ENST00000361937.3	37	c.2457G>A	CCDS10071.1																																																																																				0.408	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252527.2	0	NM_017553		15:41341604
KMT2D	8085	broad.mit.edu	37	12	49427983	49427983	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr12:49427983C>T	ENST00000301067.7	-	38	10606	c.10607G>A	c.(10606-10608)cGc>cAc	p.R3536H	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3536	Gln-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CCGGGACTTGCGGTGTACACC	0.557																																						ENST00000301067.7		NA																	0					NA						c.(10606-10608)cGc>cAc		lysine (K)-specific methyltransferase 2D							105.0	104.0	104.0					12																	49427983		2027	4198	6225	SO:0001583	missense	8085							g.chr12:49427983C>T	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.10607G>A	12.37:g.49427983C>T	ENSP00000301067:p.Arg3536His	False	False		Somatic	0					p.R3536H	NM_003482.3	NP_003473.3	WXS	Illumina HiSeq	Phase_I					38	10606	-			NA					O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.10607G>A	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560000	0.45590	.	.	ENSG00000167548	ENST00000301067	T	0.40476	1.03	5.38	5.38	0.77491	.	0.000000	0.37304	N	0.002144	T	0.62048	0.2396	L	0.54323	1.7	0.52501	D	0.999959	D	0.89917	1.0	D	0.85130	0.997	T	0.63355	-0.6656	10	0.87932	D	0	.	18.2915	0.90131	0.0:1.0:0.0:0.0	.	3536	O14686	MLL2_HUMAN	H	3536	ENSP00000301067:R3536H	ENSP00000301067:R3536H	R	-	2	0	MLL2	47714250	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.711000	0.92665	0.563000	0.77884	CGC		0.557	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2	0			12:49427983
C2CD2L	9854	broad.mit.edu	37	11	118984833	118984833	+	Missense_Mutation	SNP	C	C	T	rs201072240	byFrequency	TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr11:118984833C>T	ENST00000528586.1	+	9	981	c.911C>T	c.(910-912)gCg>gTg	p.A304V	C2CD2L_ENST00000336702.3_Missense_Mutation_p.A557V			O14523	C2C2L_HUMAN	C2CD2-like	556						integral component of membrane (GO:0016021)		p.A557V(2)		NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CTGGGCTATGCGGCATCCCTG	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		18524	0.001		0.0	False		,,,				2504	0.001					ENST00000336702.3		NA																	2	Substitution - Missense(2)	p.A557V(2)	large_intestine(1)|prostate(1)	NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						c.(1669-1671)gCg>gTg		C2CD2-like							109.0	110.0	109.0					11																	118984833		2200	4295	6495	SO:0001583	missense	9854					integral to membrane		g.chr11:118984833C>T	AK025223	CCDS8413.1	11q23.3	2008-04-22	2008-04-22	2008-04-22		ENSG00000172375			29000	protein-coding gene	gene with protein product			"""transmembrane protein 24"""	TMEM24		15289880	Standard	XM_005271738		Approved	KIAA0285	uc001pvn.3	O14523		ENST00000528586.1:c.911C>T	11.37:g.118984833C>T	ENSP00000433600:p.Ala304Val	False	False		Somatic	0				C2CD2L_ENST00000528586.1_Missense_Mutation_p.A304V	p.A557V	NM_014807.3	NP_055622.3	WXS	Illumina HiSeq	Phase_I	O14523	C2C2L_HUMAN			13	2029	+			556					Q86UT7|Q86V04|Q8N522|Q8TBN4|Q96G10	Missense_Mutation	SNP	ENST00000528586.1	37	c.1670C>T		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	24.6	4.548263	0.86127	.	.	ENSG00000172375	ENST00000336702;ENST00000528586	T;T	0.49432	0.78;0.78	5.11	3.2	0.36748	.	0.000000	0.85682	D	0.000000	T	0.61438	0.2347	M	0.61703	1.905	0.48135	D	0.999593	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.59490	-0.7445	10	0.46703	T	0.11	1.7815	9.4646	0.38804	0.1429:0.7824:0.0:0.0747	.	556;557	O14523;O14523-2	C2C2L_HUMAN;.	V	557;304	ENSP00000338885:A557V;ENSP00000433600:A304V	ENSP00000338885:A557V	A	+	2	0	C2CD2L	118490043	0.996000	0.38824	0.983000	0.44433	0.991000	0.79684	3.316000	0.51960	0.813000	0.34350	0.655000	0.94253	GCG		0.612	C2CD2L-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000388199.2	0	NM_014807		11:118984833
RNF17	56163	broad.mit.edu	37	13	25435469	25435469	+	Silent	SNP	C	C	T			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr13:25435469C>T	ENST00000255324.5	+	27	3890	c.3838C>T	c.(3838-3840)Ctg>Ttg	p.L1280L	RNF17_ENST00000381921.1_Silent_p.L1280L|RNF17_ENST00000339524.3_Silent_p.L332L	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1280	Tudor 3. {ECO:0000255|PROSITE- ProRule:PRU00211}.				multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CCCTATTTTGCTGTATCCTGA	0.318																																						ENST00000255324.5		NA																	0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(3838-3840)Ctg>Ttg		ring finger protein 17							205.0	206.0	206.0					13																	25435469		2203	4300	6503	SO:0001819	synonymous_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25435469C>T	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.3838C>T	13.37:g.25435469C>T		False	False		Somatic	0				RNF17_ENST00000339524.3_Silent_p.L332L|RNF17_ENST00000381921.1_Silent_p.L1280L	p.L1280L	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	WXS	Illumina HiSeq	Phase_I	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	27	3890	+		Lung SC(185;0.0225)|Breast(139;0.077)	1280			Tudor 3.		Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	c.3838C>T	CCDS9308.2																																																																																				0.318	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	0	NM_031994		13:25435469
KRT72	140807	broad.mit.edu	37	12	52994873	52994873	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr12:52994873G>A	ENST00000537672.2	-	1	374	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	KRT72_ENST00000398066.3_5'UTR|KRT72_ENST00000293745.2_Missense_Mutation_p.R122C|KRT72_ENST00000354310.4_Missense_Mutation_p.R122C|RP11-641A6.2_ENST00000551089.1_RNA	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	122	Head.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TCCTGGGCGCGCACCCTCTGG	0.647																																						ENST00000293745.2		NA																	0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36						c.(364-366)Cgc>Tgc		keratin 72							118.0	105.0	109.0					12																	52994873		2203	4300	6503	SO:0001583	missense	140807					keratin filament	structural molecule activity	g.chr12:52994873G>A	AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.364C>T	12.37:g.52994873G>A	ENSP00000441160:p.Arg122Cys	True	False		Somatic	0				KRT72_ENST00000354310.4_Missense_Mutation_p.R122C|KRT72_ENST00000398066.3_5'UTR|KRT72_ENST00000537672.2_Missense_Mutation_p.R122C	p.R122C	NM_080747.2	NP_542785.1	WXS	Illumina HiSeq	Phase_I	Q14CN4	K2C72_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.195)	1	449	-			122			Head.		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	ENST00000537672.2	37	c.364C>T	CCDS8833.1	.	.	.	.	.	.	.	.	.	.	G	15.92	2.976263	0.53720	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000354310	T;T;T	0.78595	-1.19;-1.19;-1.19	4.48	4.48	0.54585	.	0.000000	0.52532	D	0.000076	T	0.74183	0.3683	M	0.67397	2.05	0.80722	D	1	P;P	0.35684	0.515;0.515	B;B	0.30572	0.117;0.117	T	0.78280	-0.2265	10	0.62326	D	0.03	.	14.9789	0.71296	0.0:0.0:0.8569:0.1431	.	122;122	B4DEI8;Q14CN4	.;K2C72_HUMAN	C	122	ENSP00000441160:R122C;ENSP00000293745:R122C;ENSP00000346269:R122C	ENSP00000293745:R122C	R	-	1	0	KRT72	51281140	0.722000	0.28017	0.999000	0.59377	0.950000	0.60333	2.575000	0.46025	2.777000	0.95525	0.555000	0.69702	CGC		0.647	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405693.1	0	NM_080747		12:52994873
SOCS5	9655	broad.mit.edu	37	2	46986955	46986955	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:46986955G>A	ENST00000306503.5	+	2	1458	c.1286G>A	c.(1285-1287)cGa>cAa	p.R429Q	SOCS5_ENST00000394861.2_Missense_Mutation_p.R429Q	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	429	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				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)	p.R429L(1)|p.R429Q(1)		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)			CTGCATGCCCGAATTGAGCAG	0.498																																						ENST00000306503.5		NA																	2	Substitution - Missense(2)	p.R429L(1)|p.R429Q(1)	ovary(1)|lung(1)	breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22						c.(1285-1287)cGa>cAa		suppressor of cytokine signaling 5							103.0	101.0	102.0					2																	46986955		2203	4300	6503	SO:0001583	missense	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.chr2:46986955G>A	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	ENST00000306503.5:c.1286G>A	2.37:g.46986955G>A	ENSP00000305133:p.Arg429Gln	True	False		Somatic	0				SOCS5_ENST00000394861.2_Missense_Mutation_p.R429Q	p.R429Q	NM_014011.4	NP_054730.1	WXS	Illumina HiSeq	Phase_I	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		2	1458	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	429			SH2.		Q53SD4|Q8IYZ4	Missense_Mutation	SNP	ENST00000306503.5	37	c.1286G>A	CCDS1830.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.060002	0.55325	.	.	ENSG00000171150	ENST00000306503;ENST00000394861	D;D	0.89270	-2.49;-2.49	5.43	3.64	0.41730	SH2 motif (4);	0.056973	0.64402	D	0.000001	D	0.93916	0.8053	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.93888	0.7177	10	0.87932	D	0	-11.2549	11.8239	0.52256	0.1425:0.0:0.8575:0.0	.	429	O75159	SOCS5_HUMAN	Q	429	ENSP00000305133:R429Q;ENSP00000378330:R429Q	ENSP00000305133:R429Q	R	+	2	0	SOCS5	46840459	1.000000	0.71417	0.715000	0.30552	0.898000	0.52572	9.657000	0.98554	0.867000	0.35654	-0.136000	0.14681	CGA		0.498	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2	0			2:46986955
FYB	2533	broad.mit.edu	37	5	39127879	39127879	+	Missense_Mutation	SNP	A	A	T			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr5:39127879A>T	ENST00000351578.6	-	11	2061	c.1871T>A	c.(1870-1872)aTt>aAt	p.I624N	FYB_ENST00000515010.1_Missense_Mutation_p.I624N|FYB_ENST00000540520.1_Missense_Mutation_p.I634N|FYB_ENST00000505428.1_Missense_Mutation_p.I624N|FYB_ENST00000512982.1_Missense_Mutation_p.I624N	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	624					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|NLS-bearing protein import into nucleus (GO:0006607)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor binding (GO:0005102)			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CCCATCATAAATGTCATCATC	0.328																																						ENST00000351578.6		NA																	0				endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45						c.(1870-1872)aTt>aAt		FYN binding protein							108.0	102.0	104.0					5																	39127879		1841	4094	5935	SO:0001583	missense	2533				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding	g.chr5:39127879A>T	U93049	CCDS47200.1, CCDS54848.1	5p13.1	2012-05-04	2010-05-04		ENSG00000082074	ENSG00000082074			4036	protein-coding gene	gene with protein product		602731	"""FYN-binding protein (FYB-120/130)"""			9115214, 9207119	Standard	NM_001465		Approved	SLAP-130, FYB-120/130	uc011cpl.2	O15117	OTTHUMG00000162071	ENST00000351578.6:c.1871T>A	5.37:g.39127879A>T	ENSP00000316460:p.Ile624Asn	True	False		Somatic	0				FYB_ENST00000540520.1_Missense_Mutation_p.I634N|FYB_ENST00000505428.1_Missense_Mutation_p.I624N|FYB_ENST00000515010.1_Missense_Mutation_p.I624N|FYB_ENST00000512982.1_Missense_Mutation_p.I624N	p.I624N	NM_199335.3	NP_955367.1	WXS	Illumina HiSeq	Phase_I	O15117	FYB_HUMAN	Epithelial(62;0.235)		11	2061	-	all_lung(31;0.000343)		624					A8K2Y8|B4DLN2|E9PBV9|O00359|Q9NZI9	Missense_Mutation	SNP	ENST00000351578.6	37	c.1871T>A	CCDS47200.1	.	.	.	.	.	.	.	.	.	.	A	15.21	2.765303	0.49574	.	.	ENSG00000082074	ENST00000351578;ENST00000515010;ENST00000512982;ENST00000505428;ENST00000540520;ENST00000542542	T;T;T;T;T	0.37915	1.47;1.47;1.17;1.17;1.17	5.38	5.38	0.77491	.	0.067000	0.64402	D	0.000010	T	0.54208	0.1844	L	0.49126	1.545	0.43942	D	0.996602	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.995	T	0.56038	-0.8045	10	0.66056	D	0.02	-13.8248	14.2579	0.66065	1.0:0.0:0.0:0.0	.	634;624	B4DLN2;O15117	.;FYB_HUMAN	N	624;624;624;624;634;624	ENSP00000316460:I624N;ENSP00000426346:I624N;ENSP00000425845:I624N;ENSP00000427114:I624N;ENSP00000442840:I634N	ENSP00000316460:I624N	I	-	2	0	FYB	39163636	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.035000	0.70940	2.164000	0.68074	0.477000	0.44152	ATT		0.328	FYB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000367098.1	0	NM_001465		5:39127879
C2orf44	80304	broad.mit.edu	37	2	24262247	24262247	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:24262247G>A	ENST00000295148.4	-	2	175	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	C2orf44_ENST00000406895.3_Missense_Mutation_p.R40W	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	40									C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTGAAGCCGCAAATCAGTT	0.507			T	ALK	NSCLC																																	ENST00000295148.4		NA		Dom	yes		2	2p23.3	80304	T	chromosome 2 open reading frame 44			E	ALK		NSCLC	C2orf44/ALK(2)	0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24						c.(118-120)Cgg>Tgg		chromosome 2 open reading frame 44							119.0	105.0	110.0					2																	24262247		2203	4300	6503	SO:0001583	missense	80304						protein binding	g.chr2:24262247G>A	AK025598	CCDS1705.1, CCDS46229.1	2p23.3	2012-07-30			ENSG00000163026	ENSG00000163026			26157	protein-coding gene	gene with protein product						22327622	Standard	NM_025203		Approved	FLJ21945	uc002rep.2	Q9H6R7	OTTHUMG00000125498	ENST00000295148.4:c.118C>T	2.37:g.24262247G>A	ENSP00000295148:p.Arg40Trp	False	False		Somatic	0				C2orf44_ENST00000406895.3_Missense_Mutation_p.R40W	p.R40W	NM_025203.2	NP_079479.1	WXS	Illumina HiSeq	Phase_I	Q9H6R7	CB044_HUMAN			2	175	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		40					D6W532|Q8IYK0|Q9HBP5	Missense_Mutation	SNP	ENST00000295148.4	37	c.118C>T	CCDS1705.1	.	.	.	.	.	.	.	.	.	.	G	8.548	0.874935	0.17395	.	.	ENSG00000163026	ENST00000295148;ENST00000406895;ENST00000443232	T;T;T	0.43688	3.4;3.4;0.94	5.24	3.37	0.38596	.	0.488094	0.24352	N	0.039266	T	0.20740	0.0499	N	0.08118	0	0.09310	N	1	P;P	0.49447	0.61;0.924	B;B	0.40782	0.275;0.34	T	0.05209	-1.0899	10	0.39692	T	0.17	2.1853	7.5072	0.27551	0.1561:0.0:0.7084:0.1355	.	40;40	Q9H6R7-2;Q9H6R7	.;CB044_HUMAN	W	40	ENSP00000295148:R40W;ENSP00000385816:R40W;ENSP00000413426:R40W	ENSP00000295148:R40W	R	-	1	2	C2orf44	24115751	0.973000	0.33851	0.336000	0.25522	0.420000	0.31355	1.353000	0.34045	0.660000	0.30964	0.655000	0.94253	CGG		0.507	C2orf44-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246825.1	0	NM_025203		2:24262247
CNTN4	152330	broad.mit.edu	37	3	2861248	2861248	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr3:2861248C>T	ENST00000397461.1	+	6	821	c.437C>T	c.(436-438)cCg>cTg	p.P146L	CNTN4_ENST00000427331.1_Missense_Mutation_p.P146L|CNTN4_ENST00000418658.1_Missense_Mutation_p.P146L	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	146	Ig-like C2-type 2.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CTGTGTGGCCCGCCACCCCAT	0.448																																						ENST00000397461.1		NA																	0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(436-438)cCg>cTg		contactin 4							97.0	95.0	96.0					3																	2861248		1964	4160	6124	SO:0001583	missense	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2861248C>T	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.437C>T	3.37:g.2861248C>T	ENSP00000380602:p.Pro146Leu	True	False		Somatic	0				CNTN4_ENST00000427331.1_Missense_Mutation_p.P146L|CNTN4_ENST00000418658.1_Missense_Mutation_p.P146L	p.P146L	NM_001206955.1	NP_001193884.1	WXS	Illumina HiSeq	Phase_I	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	6	821	+		Ovarian(110;0.156)	146			Ig-like C2-type 2.		B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	ENST00000397461.1	37	c.437C>T	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708348	0.89018	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331	T;T;T	0.65178	-0.14;-0.14;-0.14	5.86	5.86	0.93980	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.82641	0.5081	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.982	D	0.85330	0.1089	10	0.87932	D	0	.	17.1044	0.86658	0.0:1.0:0.0:0.0	.	146;146	B3KTK4;Q8IWV2	.;CNTN4_HUMAN	L	146	ENSP00000396010:P146L;ENSP00000380602:P146L;ENSP00000413642:P146L	ENSP00000380602:P146L	P	+	2	0	CNTN4	2836248	1.000000	0.71417	0.872000	0.34217	0.971000	0.66376	5.939000	0.70179	2.765000	0.95021	0.655000	0.94253	CCG		0.448	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2	0			3:2861248
MKI67	4288	broad.mit.edu	37	10	129906577	129906577	+	Missense_Mutation	SNP	G	G	A	rs117795868		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr10:129906577G>A	ENST00000368654.3	-	13	3902	c.3527C>T	c.(3526-3528)aCg>aTg	p.T1176M	MKI67_ENST00000368653.3_Missense_Mutation_p.T816M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1176	16 X 122 AA approximate repeats.				cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGGTTTGGGCGTAAGCATGGC	0.463													G|||	1	0.000199681	0.0	0.0	5008	,	,		21842	0.001		0.0	False		,,,				2504	0.0					ENST00000368654.3		NA																	0				NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159						c.(3526-3528)aCg>aTg		marker of proliferation Ki-67							292.0	278.0	283.0					10																	129906577		2203	4300	6503	SO:0001583	missense	4288				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	g.chr10:129906577G>A	X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.3527C>T	10.37:g.129906577G>A	ENSP00000357643:p.Thr1176Met	False	False		Somatic	0				MKI67_ENST00000368653.3_Missense_Mutation_p.T816M	p.T1176M	NM_002417.4	NP_002408.3	WXS	Illumina HiSeq	Phase_I	P46013	KI67_HUMAN			13	3902	-		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)	1176			16 X 122 AA approximate repeats.		Q5VWH2	Missense_Mutation	SNP	ENST00000368654.3	37	c.3527C>T	CCDS7659.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	12.05	1.822665	0.32237	.	.	ENSG00000148773	ENST00000368654;ENST00000368653;ENST00000537609	T;T	0.03301	3.98;3.98	2.74	1.83	0.25207	.	1.848640	0.03443	N	0.209516	T	0.15998	0.0385	M	0.72118	2.19	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.96;0.991;0.989	T	0.06058	-1.0848	10	0.52906	T	0.07	.	5.4955	0.16799	0.1565:0.0:0.8435:0.0	.	1175;816;1176	F5H4V4;P46013-2;P46013	.;.;KI67_HUMAN	M	1176;816;1175	ENSP00000357643:T1176M;ENSP00000357642:T816M	ENSP00000357642:T816M	T	-	2	0	MKI67	129796567	0.005000	0.15991	0.002000	0.10522	0.005000	0.04900	0.110000	0.15437	0.740000	0.32651	0.462000	0.41574	ACG		0.463	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000050999.1	0	NM_002417		10:129906577
TP53	7157	broad.mit.edu	37	17	7577082	7577082	+	Nonsense_Mutation	SNP	C	C	A			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr17:7577082C>A	ENST00000269305.4	-	8	1045	c.856G>T	c.(856-858)Gaa>Taa	p.E286*	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.E286*|TP53_ENST00000359597.4_Nonsense_Mutation_p.E286*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E286*|TP53_ENST00000420246.2_Nonsense_Mutation_p.E286*|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11023613, ECO:0000269|PubMed:8316628}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:8829627}.|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGATTCTCTTCCTCTGTGCGC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		112	Substitution - Missense(63)|Substitution - Nonsense(22)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)	lung(18)|upper_aerodigestive_tract(13)|breast(10)|large_intestine(9)|urinary_tract(9)|skin(9)|oesophagus(9)|haematopoietic_and_lymphoid_tissue(8)|liver(7)|central_nervous_system(6)|bone(4)|ovary(3)|stomach(2)|vulva(1)|soft_tissue(1)|eye(1)|biliary_tract(1)|endometrium(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM076567	TP53	M		c.(856-858)Gaa>Taa	Other conserved DNA damage response genes	tumor protein p53							95.0	81.0	86.0					17																	7577082		2203	4300	6503	SO:0001587	stop_gained	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577082C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.856G>T	17.37:g.7577082C>A	ENSP00000269305:p.Glu286*	False	False	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)	Somatic	0				TP53_ENST00000269305.4_Nonsense_Mutation_p.E286*|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.E286*|TP53_ENST00000445888.2_Nonsense_Mutation_p.E286*|TP53_ENST00000455263.2_Nonsense_Mutation_p.E286*	p.E286*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	WXS	Illumina HiSeq	Phase_I	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	988	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	286		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Nonsense_Mutation	SNP	ENST00000269305.4	37	c.856G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	31	5.072281	0.93950	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	.	.	.	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-23.2961	15.807	0.78520	0.0:1.0:0.0:0.0	.	.	.	.	X	286;286;286;286;286;275;154	.	ENSP00000269305:E286X	E	-	1	0	TP53	7517807	1.000000	0.71417	0.972000	0.41901	0.455000	0.32408	7.587000	0.82613	2.579000	0.87056	0.462000	0.41574	GAA		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	0	NM_000546		17:7577082
SDHA	6389	broad.mit.edu	37	5	228396	228396	+	Missense_Mutation	SNP	G	G	C	rs1041946		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr5:228396G>C	ENST00000264932.6	+	6	833	c.718G>C	c.(718-720)Gag>Cag	p.E240Q	SDHA_ENST00000510361.1_Missense_Mutation_p.E192Q|SDHA_ENST00000504309.1_Missense_Mutation_p.E240Q	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	240			E -> Q (in dbSNP:rs1041946).		cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)	p.E240Q(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ACTGTGCATAGAGGACGGGTC	0.418									Familial Paragangliomas																													ENST00000264932.6		NA																	2	Substitution - Missense(2)	p.E240Q(2)	lung(1)|prostate(1)	NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40						c.(718-720)Gag>Cag		succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	Succinic acid(DB00139)						100.0	92.0	95.0					5																	228396		2203	4300	6503	SO:0001583	missense	6389	Familial Paragangliomas	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity	g.chr5:228396G>C	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.718G>C	5.37:g.228396G>C	ENSP00000264932:p.Glu240Gln	False	False		Somatic	0				SDHA_ENST00000504309.1_Missense_Mutation_p.E240Q|SDHA_ENST00000510361.1_Missense_Mutation_p.E192Q	p.E240Q	NM_004168.2	NP_004159.2	WXS	Illumina HiSeq	Phase_I	P31040	DHSA_HUMAN	Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		6	833	+			240		E -> Q (in dbSNP:rs1041946).			A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	c.718G>C	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	c	18.02	3.531241	0.64972	.	.	ENSG00000073578	ENST00000264932;ENST00000504309;ENST00000510361	T;T;T	0.70399	-0.48;-0.48;-0.48	5.23	5.23	0.72850	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.063690	0.64402	U	0.000008	T	0.81973	0.4936	M	0.67397	2.05	0.80722	D	1	P;P;D;P;P	0.69078	0.494;0.614;0.997;0.605;0.605	P;P;D;B;B	0.65874	0.457;0.493;0.939;0.2;0.315	D	0.83437	0.0041	10	0.66056	D	0.02	.	16.7213	0.85410	0.0:0.0:1.0:0.0	rs1041946;rs3181411;rs17410941	192;240;240;240;246	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	Q	240;240;192	ENSP00000264932:E240Q;ENSP00000426514:E240Q;ENSP00000427703:E192Q	ENSP00000264932:E240Q	E	+	1	0	SDHA	281396	1.000000	0.71417	1.000000	0.80357	0.513000	0.34164	7.579000	0.82511	2.633000	0.89246	0.644000	0.83932	GAG		0.418	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	0	NM_004168		5:228396
FAM71B	153745	broad.mit.edu	37	5	156590151	156590151	+	Silent	SNP	C	C	T			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr5:156590151C>T	ENST00000302938.4	-	2	1220	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	375						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCCTGCAAACGCCGCACTCA	0.582																																						ENST00000302938.4		NA																	0				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						c.(1123-1125)gcG>gcA		family with sequence similarity 71, member B							41.0	43.0	42.0					5																	156590151		2203	4300	6503	SO:0001819	synonymous_variant	153745					nucleus		g.chr5:156590151C>T		CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1125G>A	5.37:g.156590151C>T		True	False		Somatic	0					p.A375A	NM_130899.2	NP_570969.2	WXS	Illumina HiSeq	Phase_I	Q8TC56	FA71B_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		2	1220	-	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	375					Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	ENST00000302938.4	37	c.1125G>A	CCDS4335.1																																																																																				0.582	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	0	NM_130899		5:156590151
TTN	7273	broad.mit.edu	37	2	179430078	179430078	+	Silent	SNP	G	G	A			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr2:179430078G>A	ENST00000591111.1	-	276	76082	c.75858C>T	c.(75856-75858)aaC>aaT	p.N25286N	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.N17987N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000589042.1_Silent_p.N26927N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.N24359N|TTN_ENST00000460472.2_Silent_p.N17862N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.N18054N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25286	Ig-like 124.				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)			TTTCTTCAACGTTTACTCTTG	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.(80779-80781)aaC>aaT		titin							163.0	152.0	156.0					2																	179430078		1854	4099	5953	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179430078G>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.75858C>T	2.37:g.179430078G>A		True	False		Somatic	0				TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.N18054N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.N25286N|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.N17987N|TTN_ENST00000460472.2_Silent_p.N17862N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.N24359N|TTN-AS1_ENST00000592689.1_RNA	p.N26927N	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)		326	81005	-			25286			Fibronectin type-III 96.		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.80781C>T																																																																																					0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	0	NM_133378		2:179430078
RASSF4	83937	broad.mit.edu	37	10	45467292	45467292	+	Missense_Mutation	SNP	G	G	A	rs61759871		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr10:45467292G>A	ENST00000340258.5	+	3	247	c.134G>A	c.(133-135)cGt>cAt	p.R45H	C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000374417.2_Missense_Mutation_p.R45H|RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000334940.6_Intron	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	0					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						CTGAGACACCGTGAGGTGAGC	0.522																																						ENST00000340258.5		NA																	0				NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(133-135)cGt>cAt		Ras association (RalGDS/AF-6) domain family member 4		G	HIS/ARG	0,4406		0,0,2203	179.0	133.0	148.0		134	5.3	1.0	10	dbSNP_129	148	3,8597	3.0+/-9.4	0,3,4297	no	missense	RASSF4	NM_032023.3	29	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign	45/322	45467292	3,13003	2203	4300	6503	SO:0001583	missense	83937				cell cycle|signal transduction		protein binding	g.chr10:45467292G>A	BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.134G>A	10.37:g.45467292G>A	ENSP00000339692:p.Arg45His	True	False		Somatic	0				RASSF4_ENST00000334940.6_Intron|RASSF4_ENST00000374417.2_Missense_Mutation_p.R45H|C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000472561.1_3'UTR	p.R45H	NM_032023.3	NP_114412.2	WXS	Illumina HiSeq	Phase_I	Q9H2L5	RASF4_HUMAN			3	247	+			NA					Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000340258.5	37	c.134G>A	CCDS7208.1	.	.	.	.	.	.	.	.	.	.	G	19.25	3.792072	0.70452	0.0	3.49E-4	ENSG00000107551	ENST00000374417;ENST00000374414;ENST00000340258;ENST00000427758;ENST00000428466;ENST00000374411	T;T;T;T	0.29397	1.57;2.37;1.57;1.57	5.27	5.27	0.74061	.	0.312435	0.30446	N	0.009610	T	0.28896	0.0717	L	0.49640	1.575	0.80722	D	1	B;B	0.28208	0.203;0.026	B;B	0.21151	0.033;0.008	T	0.03684	-1.1013	10	0.40728	T	0.16	-8.1958	14.7643	0.69626	0.0:0.0:1.0:0.0	rs61759871	136;45	Q59FL4;Q9H2L5	.;RASF4_HUMAN	H	45;45;45;45;38;136	ENSP00000363538:R45H;ENSP00000339692:R45H;ENSP00000409767:R45H;ENSP00000413468:R38H	ENSP00000339692:R45H	R	+	2	0	RASSF4	44787298	0.999000	0.42202	0.999000	0.59377	0.615000	0.37417	2.358000	0.44134	2.632000	0.89209	0.655000	0.94253	CGT		0.522	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047745.2	0	NM_032023		10:45467292
SF3B2	10992	broad.mit.edu	37	11	65820570	65820570	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr11:65820570G>A	ENST00000322535.6	+	3	302	c.253G>A	c.(253-255)Gca>Aca	p.A85T	SF3B2_ENST00000528302.1_Missense_Mutation_p.A85T|snoU13_ENST00000459530.1_RNA	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	85					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						TCCCATGTCGGCACAGGTAGG	0.493																																						ENST00000528302.1		NA																	0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.(253-255)Gca>Aca		splicing factor 3b, subunit 2, 145kDa							142.0	148.0	146.0					11																	65820570		2201	4296	6497	SO:0001583	missense	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65820570G>A	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.253G>A	11.37:g.65820570G>A	ENSP00000318861:p.Ala85Thr	False	False		Somatic	0				SF3B2_ENST00000322535.6_Missense_Mutation_p.A85T	p.A85T			WXS	Illumina HiSeq	Phase_I	Q13435	SF3B2_HUMAN			3	307	+			85					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Missense_Mutation	SNP	ENST00000322535.6	37	c.253G>A	CCDS31612.1	.	.	.	.	.	.	.	.	.	.	G	12.84	2.059249	0.36373	.	.	ENSG00000087365	ENST00000528302;ENST00000322535;ENST00000533595;ENST00000524627;ENST00000355456;ENST00000530322;ENST00000524475	.	.	.	4.55	3.64	0.41730	.	0.317215	0.34291	N	0.004088	T	0.38878	0.1057	N	0.08118	0	0.30748	N	0.745392	D;D	0.57571	0.98;0.98	D;P	0.68192	0.956;0.811	T	0.36529	-0.9744	9	0.52906	T	0.07	-5.6862	8.6598	0.34086	0.1041:0.0:0.8959:0.0	.	85;85	Q13435;E9PJ04	SF3B2_HUMAN;.	T	85;85;85;85;87;80;3	.	ENSP00000318861:A85T	A	+	1	0	SF3B2	65577146	0.997000	0.39634	0.994000	0.49952	0.846000	0.48090	5.333000	0.65917	1.270000	0.44297	0.655000	0.94253	GCA		0.493	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2	0			11:65820570
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000556131.1_Missense_Mutation_p.G12V	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>gTt		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>A	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>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	False	False	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)	Somatic	0				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V	p.G12V	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>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	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
RRN3P2	653390	broad.mit.edu	37	16	29110438	29110438	+	RNA	SNP	T	T	C			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	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
ANKRD30B	374860	broad.mit.edu	37	18	14787073	14787073	+	Missense_Mutation	SNP	G	G	T	rs372948852		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr18:14787073G>T	ENST00000358984.4	+	15	1888	c.1708G>T	c.(1708-1710)Gat>Tat	p.D570Y	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.D570Y|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	570										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACAAAAGGACGATGAAGAAAA	0.289																																						ENST00000358984.4		NA																	0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(1708-1710)Gat>Tat		ankyrin repeat domain 30B							171.0	145.0	152.0					18																	14787073		692	1585	2277	SO:0001583	missense	374860							g.chr18:14787073G>T	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.1708G>T	18.37:g.14787073G>T	ENSP00000351875:p.Asp570Tyr	False	False		Somatic	0				ANKRD30B_ENST00000447268.2_Missense_Mutation_p.D570Y|ANKRD30B_ENST00000579292.1_Intron	p.D570Y	NM_001145029.1	NP_001138501.1	WXS	Illumina HiSeq	Phase_I	Q9BXX2	AN30B_HUMAN			15	1888	+			570					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.1708G>T	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	0.013	-1.632882	0.00806	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.05855	3.38;3.38	1.15	0.246	0.15516	.	.	.	.	.	T	0.04182	0.0116	L	0.31752	0.955	0.09310	N	1	D	0.53312	0.959	B	0.40134	0.32	T	0.40421	-0.9564	9	0.39692	T	0.17	.	4.2079	0.10497	0.2405:0.0:0.7595:0.0	.	570	F8WAG3	.	Y	570	ENSP00000351875:D570Y;ENSP00000399031:D570Y	ENSP00000351875:D570Y	D	+	1	0	ANKRD30B	14777073	0.016000	0.18221	0.000000	0.03702	0.002000	0.02628	-0.106000	0.10890	0.032000	0.15435	-1.377000	0.01181	GAT		0.289	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	0	NM_001145029		18:14787073
GRM1	2911	broad.mit.edu	37	6	146480607	146480607	+	Missense_Mutation	SNP	G	G	A	rs553512718		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr6:146480607G>A	ENST00000282753.1	+	2	1059	c.824G>A	c.(823-825)cGc>cAc	p.R275H	GRM1_ENST00000392299.2_Missense_Mutation_p.R275H|GRM1_ENST00000492807.2_Missense_Mutation_p.R275H|GRM1_ENST00000355289.4_Missense_Mutation_p.R275H|GRM1_ENST00000361719.2_Missense_Mutation_p.R275H|GRM1_ENST00000507907.1_Missense_Mutation_p.R275H			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	275					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.R275H(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CGACTCTTGCGCAAACTCCGA	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18937	0.001		0.0	False		,,,				2504	0.0					ENST00000392299.2		NA																	1	Substitution - Missense(1)	p.R275H(1)	large_intestine(1)	NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126						c.(823-825)cGc>cAc		glutamate receptor, metabotropic 1	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)						93.0	84.0	87.0					6																	146480607		2203	4300	6503	SO:0001583	missense	2911				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr6:146480607G>A	U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.824G>A	6.37:g.146480607G>A	ENSP00000282753:p.Arg275His	False	False		Somatic	0				GRM1_ENST00000282753.1_Missense_Mutation_p.R275H|GRM1_ENST00000507907.1_Missense_Mutation_p.R275H|GRM1_ENST00000355289.4_Missense_Mutation_p.R275H|GRM1_ENST00000361719.2_Missense_Mutation_p.R275H|GRM1_ENST00000492807.2_Missense_Mutation_p.R275H	p.R275H			WXS	Illumina HiSeq	Phase_I	Q13255	GRM1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	3	1294	+		Ovarian(120;0.0387)	275					B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	c.824G>A	CCDS5209.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.838921	0.91117	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	5.32	5.32	0.75619	Extracellular ligand-binding receptor (1);	0.053988	0.64402	D	0.000002	D	0.82398	0.5028	L	0.53671	1.685	0.53688	D	0.999976	P;D;P;P	0.64830	0.932;0.994;0.945;0.932	P;P;P;P	0.58780	0.537;0.845;0.667;0.537	D	0.84833	0.0803	10	0.72032	D	0.01	.	9.6698	0.40006	0.1545:0.0:0.8455:0.0	.	275;275;270;275	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	H	275	ENSP00000354896:R275H;ENSP00000376119:R275H;ENSP00000424095:R275H;ENSP00000282753:R275H;ENSP00000347437:R275H;ENSP00000425599:R275H	ENSP00000282753:R275H	R	+	2	0	GRM1	146522300	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.432000	0.73400	2.495000	0.84180	0.655000	0.94253	CGC		0.577	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	0	NM_000838		6:146480607
MYH6	4624	broad.mit.edu	37	14	23866789	23866789	+	Missense_Mutation	SNP	T	T	C			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr14:23866789T>C	ENST00000356287.3	-	15	1954	c.1925A>G	c.(1924-1926)aAg>aGg	p.K642R	MYH6_ENST00000405093.3_Missense_Mutation_p.K642R			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	642	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGATGAGCCCTTTTTCTTGCC	0.557																																						ENST00000405093.3		NA																	0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(1924-1926)aAg>aGg		myosin, heavy chain 6, cardiac muscle, alpha							98.0	93.0	95.0					14																	23866789		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23866789T>C	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1925A>G	14.37:g.23866789T>C	ENSP00000348634:p.Lys642Arg	True	False		Somatic	0				MYH6_ENST00000356287.3_Missense_Mutation_p.K642R	p.K642R	NM_002471.3	NP_002462.2	WXS	Illumina HiSeq	Phase_I	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	16	1995	-	all_cancers(95;2.54e-05)		642			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.1925A>G	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	.	25.8	4.674282	0.88445	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.87571	-2.27;-2.27	4.27	4.27	0.50696	Myosin head, motor domain (2);	.	.	.	.	D	0.90393	0.6993	L	0.45470	1.425	0.58432	D	0.99999	D	0.58620	0.983	D	0.77557	0.99	D	0.90416	0.4413	9	0.49607	T	0.09	.	13.4865	0.61369	0.0:0.0:0.0:1.0	.	642	P13533	MYH6_HUMAN	R	642	ENSP00000386041:K642R;ENSP00000348634:K642R	ENSP00000348634:K642R	K	-	2	0	MYH6	22936629	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.338000	0.79269	1.933000	0.56026	0.533000	0.62120	AAG		0.557	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3	0			14:23866789
LATS2	26524	broad.mit.edu	37	13	21562246	21562246	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr13:21562246C>T	ENST00000382592.4	-	4	2078	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H	LATS2_ENST00000542899.1_Missense_Mutation_p.R558H|LATS2_ENST00000472754.1_5'Flank	NM_014572.2	NP_055387.2			large tumor suppressor kinase 2									p.R558H(3)		breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GGCGCTTTTGCGGCTCTTGTC	0.612																																						ENST00000382592.4		NA																	3	Substitution - Missense(3)	p.R558H(3)	urinary_tract(2)|central_nervous_system(1)	breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45						c.(1672-1674)cGc>cAc		large tumor suppressor kinase 2							125.0	123.0	124.0					13																	21562246		2203	4300	6503	SO:0001583	missense	26524				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr13:21562246C>T	AB028019	CCDS9294.1	13q11-q12	2013-04-25	2013-04-25		ENSG00000150457	ENSG00000150457			6515	protein-coding gene	gene with protein product		604861	"""LATS (large tumor suppressor, Drosophila) homolog 2"", ""LATS, large tumor suppressor, homolog 2 (Drosophila)"""			10673337	Standard	NM_014572		Approved		uc001unr.4	Q9NRM7	OTTHUMG00000016531	ENST00000382592.4:c.1673G>A	13.37:g.21562246C>T	ENSP00000372035:p.Arg558His	False	False		Somatic	0				LATS2_ENST00000542899.1_Missense_Mutation_p.R558H	p.R558H	NM_014572.2	NP_055387.2	WXS	Illumina HiSeq	Phase_I	Q9NRM7	LATS2_HUMAN		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)	4	2078	-		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)	558						Missense_Mutation	SNP	ENST00000382592.4	37	c.1673G>A	CCDS9294.1	.	.	.	.	.	.	.	.	.	.	C	8.950	0.968029	0.18659	.	.	ENSG00000150457	ENST00000382592;ENST00000542899	T;T	0.58797	0.31;0.31	5.12	-3.29	0.05017	.	0.644256	0.14377	N	0.323385	T	0.28962	0.0719	N	0.08118	0	0.23645	N	0.997217	B	0.02656	0.0	B	0.01281	0.0	T	0.12192	-1.0557	10	0.32370	T	0.25	.	7.01	0.24857	0.0:0.3617:0.4612:0.177	.	558	Q9NRM7	LATS2_HUMAN	H	558	ENSP00000372035:R558H;ENSP00000441817:R558H	ENSP00000372035:R558H	R	-	2	0	LATS2	20460246	0.985000	0.35326	0.295000	0.24960	0.152000	0.21847	0.164000	0.16542	-0.420000	0.07427	-0.389000	0.06534	CGC		0.612	LATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044102.1	0			13:21562246
SAGE1	55511	broad.mit.edu	37	X	134993945	134993945	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chrX:134993945C>T	ENST00000370709.3	+	17	2354	c.2354C>T	c.(2353-2355)gCg>gTg	p.A785V	SAGE1_ENST00000535938.1_Missense_Mutation_p.A785V|SAGE1_ENST00000324447.3_Missense_Mutation_p.A785V|SAGE1_ENST00000537770.1_Missense_Mutation_p.A409V			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	785						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					AATGAATTTGCGGTAGGCACC	0.443																																						ENST00000535938.1		NA																	0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(2353-2355)gCg>gTg		sarcoma antigen 1							136.0	126.0	129.0					X																	134993945		2203	4300	6503	SO:0001583	missense	55511							g.chrX:134993945C>T	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2354C>T	X.37:g.134993945C>T	ENSP00000359743:p.Ala785Val	False	False		Somatic	0				SAGE1_ENST00000537770.1_Missense_Mutation_p.A409V|SAGE1_ENST00000324447.3_Missense_Mutation_p.A785V|SAGE1_ENST00000370709.3_Missense_Mutation_p.A785V	p.A785V	NM_018666.2	NP_061136.2	WXS	Illumina HiSeq	Phase_I	Q9NXZ1	SAGE1_HUMAN			18	2521	+	Acute lymphoblastic leukemia(192;0.000127)		785					Q5JNW0	Missense_Mutation	SNP	ENST00000370709.3	37	c.2354C>T	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	C	0.078	-1.188862	0.01607	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	T;T;T;T	0.30182	1.54;1.54;1.58;1.54	2.67	-5.34	0.02705	.	7.345260	0.00851	N	0.001834	T	0.08492	0.0211	N	0.00707	-1.245	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.08055	0.003;0.001	T	0.31251	-0.9950	10	0.07482	T	0.82	.	8.3271	0.32165	0.0:0.1179:0.2009:0.6812	.	409;785	F5H2Z8;Q9NXZ1	.;SAGE1_HUMAN	V	785;785;409;785	ENSP00000323191:A785V;ENSP00000445959:A785V;ENSP00000438276:A409V;ENSP00000359743:A785V	ENSP00000323191:A785V	A	+	2	0	SAGE1	134821611	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-4.323000	0.00253	-2.402000	0.00577	-1.175000	0.01729	GCG		0.443	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	0	NM_018666		X:134993945
ADCY4	196883	broad.mit.edu	37	14	24788372	24788372	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr14:24788372G>A	ENST00000310677.4	-	24	3001	c.2888C>T	c.(2887-2889)gCc>gTc	p.A963V	ADCY4_ENST00000554068.2_Missense_Mutation_p.A963V|ADCY4_ENST00000418030.2_Missense_Mutation_p.A963V	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	963					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CAGGGCCACGGCAAATTCCAC	0.592																																						ENST00000310677.4		NA																	0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2887-2889)gCc>gTc		adenylate cyclase 4							126.0	122.0	123.0					14																	24788372		2203	4300	6503	SO:0001583	missense	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24788372G>A	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2888C>T	14.37:g.24788372G>A	ENSP00000312126:p.Ala963Val	False	False		Somatic	0				ADCY4_ENST00000418030.2_Missense_Mutation_p.A963V|ADCY4_ENST00000554068.2_Missense_Mutation_p.A963V	p.A963V	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	WXS	Illumina HiSeq	Phase_I	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	24	3001	-			963					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	c.2888C>T	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662559	0.67700	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030	T;T;T	0.58210	0.35;0.35;0.35	4.79	4.79	0.61399	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.151368	0.30840	N	0.008774	T	0.60843	0.2300	M	0.90082	3.085	0.80722	D	1	P	0.39624	0.681	B	0.36378	0.223	T	0.72308	-0.4332	10	0.72032	D	0.01	.	15.3891	0.74729	0.0:0.0:1.0:0.0	.	963	Q8NFM4	ADCY4_HUMAN	V	963	ENSP00000312126:A963V;ENSP00000452250:A963V;ENSP00000393177:A963V	ENSP00000312126:A963V	A	-	2	0	ADCY4	23858212	1.000000	0.71417	0.964000	0.40570	0.736000	0.42039	6.361000	0.73070	2.478000	0.83669	0.655000	0.94253	GCC		0.592	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4	0			14:24788372
DDB2	1643	broad.mit.edu	37	11	47259552	47259552	+	Splice_Site	SNP	G	G	A			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr11:47259552G>A	ENST00000256996.4	+	8	1383	c.1188G>A	c.(1186-1188)tcG>tcA	p.S396S	DDB2_ENST00000378600.3_Splice_Site_p.S207S|DDB2_ENST00000378601.3_3'UTR|ACP2_ENST00000525230.1_5'Flank|DDB2_ENST00000378603.3_Splice_Site_p.S332S	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	396					DNA repair (GO:0006281)|histone H2A monoubiquitination (GO:0035518)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|pyrimidine dimer repair (GO:0006290)|response to UV (GO:0009411)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)	damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						GCATCAGTTCGGTGAGGCTTG	0.463			"""Mis, N"""			"""skin basal cell, skin squamous cell, melanoma"""		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000256996.4		NA	yes	Rec		Xeroderma pigmentosum (E)	11	11p12	1643	"""Mis, N"""	damage-specific DNA binding protein 2			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						c.(1186-1188)tcG>tcA	Direct reversal of damage;Nucleotide excision repair (NER)	damage-specific DNA binding protein 2, 48kDa							87.0	73.0	78.0					11																	47259552		2201	4298	6499	SO:0001630	splice_region_variant	1643	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding	g.chr11:47259552G>A		CCDS7927.1, CCDS73284.1	11p12-p11	2014-09-17	2002-08-29			ENSG00000134574		"""WD repeat domain containing"""	2718	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group E protein"", ""UV-damaged DNA-binding protein 2"", ""DDB p48 subunit"""	600811	"""damage-specific DNA binding protein 2 (48kD)"""			8407967, 8530102	Standard	NM_000107		Approved	DDBB, UV-DDB2, FLJ34321	uc001neb.2	Q92466		ENST00000256996.4:c.1188+1G>A	11.37:g.47259552G>A		False	False		Somatic	0				DDB2_ENST00000378600.3_Splice_Site_p.S207S|DDB2_ENST00000378601.3_3'UTR|DDB2_ENST00000378603.3_Splice_Site_p.S332S	p.S396S	NM_000107.2	NP_000098.1	WXS	Illumina HiSeq	Phase_I	Q92466	DDB2_HUMAN			8	1383	+			396					B2R875|Q76E54|Q76E55|Q76E56|Q76E57	Splice_Site	SNP	ENST00000256996.4	37	c.1188G>A	CCDS7927.1																																																																																				0.463	DDB2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		0	NM_000107	Silent	11:47259552
POLG	5428	broad.mit.edu	37	15	89864367	89864367	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr15:89864367G>A	ENST00000268124.5	-	17	3056	c.2723C>T	c.(2722-2724)gCc>gTc	p.A908V	POLG_ENST00000442287.2_Missense_Mutation_p.A908V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	908					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			ATGCATGCCGGCAAAGTGGGC	0.582								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)	ENST00000268124.5		NA																	0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33						c.(2722-2724)gCc>gTc	DNA polymerases (catalytic subunits)	polymerase (DNA directed), gamma							74.0	82.0	79.0					15																	89864367		2200	4299	6499	SO:0001583	missense	5428				base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding	g.chr15:89864367G>A	X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.2723C>T	15.37:g.89864367G>A	ENSP00000268124:p.Ala908Val	False	False		Somatic	0				POLG_ENST00000442287.2_Missense_Mutation_p.A908V	p.A908V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	WXS	Illumina HiSeq	Phase_I	P54098	DPOG1_HUMAN	STAD - Stomach adenocarcinoma(125;0.165)		17	3056	-	Lung NSC(78;0.0472)|all_lung(78;0.089)		908					Q8NFM2|Q92515	Missense_Mutation	SNP	ENST00000268124.5	37	c.2723C>T	CCDS10350.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651395	0.88056	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.96716	-4.1;-4.1	5.24	4.31	0.51392	DNA-directed DNA polymerase, family A, palm domain (2);	0.050208	0.85682	D	0.000000	D	0.97343	0.9131	L	0.58583	1.82	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.97312	0.9938	10	0.51188	T	0.08	-3.644	15.2004	0.73132	0.0:0.0:0.858:0.142	.	908	P54098	DPOG1_HUMAN	V	908	ENSP00000268124:A908V;ENSP00000399851:A908V	ENSP00000268124:A908V	A	-	2	0	POLG	87665371	1.000000	0.71417	0.451000	0.26982	0.989000	0.77384	7.638000	0.83328	1.184000	0.42957	0.655000	0.94253	GCC		0.582	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000312854.2	0	NM_002693		15:89864367
HK1	3098	broad.mit.edu	37	10	71103607	71103607	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr10:71103607C>T	ENST00000359426.6	+	2	192	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	HK1_ENST00000360289.2_Missense_Mutation_p.R18W|HK1_ENST00000404387.2_Missense_Mutation_p.R34W|HK1_ENST00000448642.2_Missense_Mutation_p.R65W|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000298649.3_Missense_Mutation_p.R29W	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	30	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.R34W(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CTATGCCATGCGGCTCTCCGA	0.527																																						ENST00000448642.2		NA																	1	Substitution - Missense(1)	p.R34W(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						c.(193-195)Cgg>Tgg		hexokinase 1							162.0	155.0	158.0					10																	71103607		2203	4300	6503	SO:0001583	missense	3098				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity	g.chr10:71103607C>T	M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.88C>T	10.37:g.71103607C>T	ENSP00000352398:p.Arg30Trp	False	False		Somatic	0				HK1_ENST00000298649.3_Missense_Mutation_p.R29W|HK1_ENST00000404387.2_Missense_Mutation_p.R34W|HK1_ENST00000359426.6_Missense_Mutation_p.R30W|HK1_ENST00000360289.2_Missense_Mutation_p.R18W|HK1_ENST00000494253.1_3'UTR	p.R65W			WXS	Illumina HiSeq	Phase_I	P19367	HXK1_HUMAN			7	582	+			30			Regulatory.		E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Missense_Mutation	SNP	ENST00000359426.6	37	c.193C>T	CCDS7292.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422830	0.83559	.	.	ENSG00000156515	ENST00000450646;ENST00000360289;ENST00000448642;ENST00000421088;ENST00000404387;ENST00000436817;ENST00000298649;ENST00000359426;ENST00000405407	D;D;D;D;D;D;D;D	0.98567	-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0;-5.0	5.31	3.36	0.38483	Hexokinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98526	0.9508	M	0.71581	2.175	0.80722	D	1	D;D;D;D;P	0.89917	1.0;0.999;1.0;1.0;0.954	D;D;D;D;B	0.73380	0.964;0.972;0.98;0.967;0.127	D	0.98141	1.0436	10	0.49607	T	0.09	-2.347	13.9312	0.63996	0.2775:0.7225:0.0:0.0	.	30;29;65;34;18	P19367;P19367-2;E7ENR4;P19367-3;P19367-4	HXK1_HUMAN;.;.;.;.	W	34;18;65;18;34;29;29;30;30	ENSP00000409761:R34W;ENSP00000353433:R18W;ENSP00000402103:R65W;ENSP00000398316:R18W;ENSP00000384774:R34W;ENSP00000415949:R29W;ENSP00000298649:R29W;ENSP00000352398:R30W	ENSP00000298649:R29W	R	+	1	2	HK1	70773613	1.000000	0.71417	1.000000	0.80357	0.890000	0.51754	5.696000	0.68287	0.547000	0.28938	0.655000	0.94253	CGG		0.527	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2	0	NM_000188		10:71103607
ZIC5	85416	broad.mit.edu	37	13	100617645	100617645	+	Missense_Mutation	SNP	G	G	A	rs577823767		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr13:100617645G>A	ENST00000267294.4	-	2	2211	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	660					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGTATCGTCCGCACAACTTCA	0.483													G|||	1	0.000199681	0.0	0.0014	5008	,	,		13720	0.0		0.0	False		,,,				2504	0.0					ENST00000267294.4		NA																	0				endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9						c.(1978-1980)Cgg>Tgg		Zic family member 5							66.0	66.0	66.0					13																	100617645		2203	4300	6503	SO:0001583	missense	85416				cell differentiation	nucleus	DNA binding|zinc ion binding	g.chr13:100617645G>A	AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1978C>T	13.37:g.100617645G>A	ENSP00000267294:p.Arg660Trp	False	False		Somatic	0					p.R660W	NM_033132.3	NP_149123.2	WXS	Illumina HiSeq	Phase_I	Q96T25	ZIC5_HUMAN			2	2211	-	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		660					Q5VYB0	Missense_Mutation	SNP	ENST00000267294.4	37	c.1978C>T	CCDS9494.2	.	.	.	.	.	.	.	.	.	.	G	18.14	3.556755	0.65425	.	.	ENSG00000139800	ENST00000267294	T	0.18016	2.24	6.06	5.14	0.70334	.	.	.	.	.	T	0.29321	0.0730	L	0.36672	1.1	0.35097	D	0.764889	D	0.89917	1.0	D	0.69654	0.965	T	0.18335	-1.0340	9	0.87932	D	0	.	11.1163	0.48262	0.0:0.0:0.7346:0.2654	.	660	Q96T25	ZIC5_HUMAN	W	660	ENSP00000267294:R660W	ENSP00000267294:R660W	R	-	1	2	ZIC5	99415646	0.998000	0.40836	0.997000	0.53966	0.991000	0.79684	2.915000	0.48805	2.871000	0.98454	0.655000	0.94253	CGG		0.483	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3	0	NM_033132		13:100617645
PDZD2	23037	broad.mit.edu	37	5	32108081	32108081	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr5:32108081C>T	ENST00000438447.1	+	25	8748	c.8360C>T	c.(8359-8361)gCg>gTg	p.A2787V	PDZD2_ENST00000282493.3_Missense_Mutation_p.A2787V|PDZD2_ENST00000513490.1_3'UTR|CTD-2152M20.2_ENST00000503441.1_RNA			O15018	PDZD2_HUMAN	PDZ domain containing 2	2787	PDZ 6. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTAGGTGGTGCGGCTGAACAA	0.348																																						ENST00000438447.1		NA																	0				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(8359-8361)gCg>gTg		PDZ domain containing 2							111.0	116.0	114.0					5																	32108081		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:32108081C>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.8360C>T	5.37:g.32108081C>T	ENSP00000402033:p.Ala2787Val	False	False		Somatic	0				PDZD2_ENST00000513490.1_3'UTR|PDZD2_ENST00000282493.3_Missense_Mutation_p.A2787V|CTD-2152M20.2_ENST00000503441.1_RNA	p.A2787V			WXS	Illumina HiSeq	Phase_I	O15018	PDZD2_HUMAN			25	8748	+			2787			PDZ 6.		Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.8360C>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.600307	0.87055	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.37411	1.2;1.2	5.88	5.88	0.94601	PDZ/DHR/GLGF (4);	0.000000	0.56097	D	0.000030	T	0.51890	0.1701	L	0.39898	1.24	0.52501	D	0.999956	D	0.89917	1.0	D	0.97110	1.0	T	0.30149	-0.9988	10	0.29301	T	0.29	.	17.7218	0.88353	0.0:1.0:0.0:0.0	.	2787	O15018	PDZD2_HUMAN	V	2787;2588;2787	ENSP00000402033:A2787V;ENSP00000282493:A2787V	ENSP00000282493:A2787V	A	+	2	0	PDZD2	32143838	1.000000	0.71417	0.999000	0.59377	0.597000	0.36814	6.955000	0.76007	2.778000	0.95560	0.655000	0.94253	GCG		0.348	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1	0			5:32108081
HVCN1	84329	broad.mit.edu	37	12	111088053	111088053	+	Missense_Mutation	SNP	G	G	A			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr12:111088053G>A	ENST00000356742.5	-	6	1429	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	HVCN1_ENST00000242607.8_Missense_Mutation_p.R226W|HVCN1_ENST00000548312.1_Missense_Mutation_p.R226W|HVCN1_ENST00000439744.2_Missense_Mutation_p.R206W			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	226					cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						AAGAGTTGCCGTTCTGAACGT	0.398																																						ENST00000356742.5		NA																	0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						c.(676-678)Cgg>Tgg		hydrogen voltage-gated channel 1							168.0	148.0	155.0					12																	111088053		2203	4300	6503	SO:0001583	missense	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111088053G>A	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.676C>T	12.37:g.111088053G>A	ENSP00000349181:p.Arg226Trp	False	False		Somatic	0				HVCN1_ENST00000242607.8_Missense_Mutation_p.R226W|HVCN1_ENST00000439744.2_Missense_Mutation_p.R206W|HVCN1_ENST00000548312.1_Missense_Mutation_p.R226W	p.R226W			WXS	Illumina HiSeq	Phase_I	Q96D96	HVCN1_HUMAN			6	1429	-			226					A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	Missense_Mutation	SNP	ENST00000356742.5	37	c.676C>T	CCDS31900.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980869	0.53827	.	.	ENSG00000122986	ENST00000548312;ENST00000242607;ENST00000356742;ENST00000439744	T;T;T;T	0.50813	0.73;0.75;0.75;0.75	6.17	4.31	0.51392	.	0.308268	0.36409	N	0.002616	T	0.64768	0.2628	M	0.76574	2.34	0.32053	N	0.596686	B;D	0.76494	0.068;0.999	B;P	0.60886	0.019;0.88	T	0.74870	-0.3517	10	0.87932	D	0	-25.0411	13.9148	0.63890	0.0:0.0:0.7229:0.2771	.	226;226	Q96D96;Q96D96-3	HVCN1_HUMAN;.	W	226;226;226;206	ENSP00000449601:R226W;ENSP00000242607:R226W;ENSP00000349181:R226W;ENSP00000412052:R206W	ENSP00000242607:R226W	R	-	1	2	HVCN1	109572436	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.967000	0.49216	0.882000	0.36016	-0.182000	0.12963	CGG		0.398	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	0	NM_032369		12:111088053
MUC17	140453	broad.mit.edu	37	7	100677537	100677537	+	Missense_Mutation	SNP	C	C	G			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr7:100677537C>G	ENST00000306151.4	+	3	2904	c.2840C>G	c.(2839-2841)aCt>aGt	p.T947S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	947	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CTTTCAGCAACTCCTGTTGAC	0.507																																						ENST00000306151.4		NA																	0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(2839-2841)aCt>aGt		mucin 17, cell surface associated							337.0	304.0	315.0					7																	100677537		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100677537C>G	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2840C>G	7.37:g.100677537C>G	ENSP00000302716:p.Thr947Ser	False	False		Somatic	0					p.T947S	NM_001040105.1	NP_001035194.1	WXS	Illumina HiSeq	Phase_I	Q685J3	MUC17_HUMAN			3	2904	+	Lung NSC(181;0.136)|all_lung(186;0.182)		947			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.2840C>G	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	2.823	-0.244331	0.05906	.	.	ENSG00000169876	ENST00000306151	T	0.02323	4.34	0.942	-0.333	0.12671	.	.	.	.	.	T	0.01730	0.0055	N	0.19112	0.55	0.09310	N	1	B	0.20459	0.045	B	0.08055	0.003	T	0.49062	-0.8978	9	0.08179	T	0.78	.	6.4664	0.21983	0.0:0.6919:0.3081:0.0	.	947	Q685J3	MUC17_HUMAN	S	947	ENSP00000302716:T947S	ENSP00000302716:T947S	T	+	2	0	MUC17	100464257	0.005000	0.15991	0.000000	0.03702	0.038000	0.13279	1.904000	0.39868	-0.070000	0.12908	0.134000	0.15878	ACT		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	0	NM_001040105		7:100677537
SEMA6D	80031	broad.mit.edu	37	15	48056428	48056428	+	Silent	SNP	A	A	G			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr15:48056428A>G	ENST00000316364.5	+	11	1462	c.1023A>G	c.(1021-1023)aaA>aaG	p.K341K	SEMA6D_ENST00000536845.2_Silent_p.K341K|SEMA6D_ENST00000355997.3_Silent_p.K341K|SEMA6D_ENST00000389425.3_Silent_p.K341K|SEMA6D_ENST00000389432.2_Silent_p.K341K|SEMA6D_ENST00000558816.1_Silent_p.K341K|SEMA6D_ENST00000358066.4_Silent_p.K341K|SEMA6D_ENST00000389433.2_Silent_p.K341K|SEMA6D_ENST00000354744.4_Silent_p.K341K|SEMA6D_ENST00000558014.1_Silent_p.K341K|SEMA6D_ENST00000389428.3_Silent_p.K341K|SEMA6D_ENST00000537942.1_Silent_p.K341K	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	341	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		AAGTATTCAAAGGACGGTTTA	0.413																																						ENST00000316364.5		NA																	0				biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77						c.(1021-1023)aaA>aaG		sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D							104.0	99.0	101.0					15																	48056428		2198	4297	6495	SO:0001819	synonymous_variant	80031				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	g.chr15:48056428A>G	AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.1023A>G	15.37:g.48056428A>G		True	False		Somatic	0				SEMA6D_ENST00000389425.3_Silent_p.K341K|SEMA6D_ENST00000558014.1_Silent_p.K341K|SEMA6D_ENST00000558816.1_Silent_p.K341K|SEMA6D_ENST00000389432.2_Silent_p.K341K|SEMA6D_ENST00000537942.1_Silent_p.K341K|SEMA6D_ENST00000389433.2_Silent_p.K341K|SEMA6D_ENST00000354744.4_Silent_p.K341K|SEMA6D_ENST00000536845.2_Silent_p.K341K|SEMA6D_ENST00000355997.3_Silent_p.K341K|SEMA6D_ENST00000389428.3_Silent_p.K341K|SEMA6D_ENST00000358066.4_Silent_p.K341K	p.K341K	NM_153618.1	NP_705871.1	WXS	Illumina HiSeq	Phase_I	Q8NFY4	SEM6D_HUMAN		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)	11	1462	+		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)	341			Sema.		A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	ENST00000316364.5	37	c.1023A>G	CCDS32225.1																																																																																				0.413	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416868.1	0	NM_024966		15:48056428
FCN1	2219	broad.mit.edu	37	9	137803031	137803031	+	Silent	SNP	G	G	A	rs145090957		TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr9:137803031G>A	ENST00000371806.3	-	8	772	c.681C>T	c.(679-681)gaC>gaT	p.D227D		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	227	B domain; contributes to trimerization.|Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell surface pattern recognition receptor signaling pathway (GO:0002752)|complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of interleukin-8 secretion (GO:2000484)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|extrinsic component of external side of plasma membrane (GO:0031232)	antigen binding (GO:0003823)|calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|G-protein coupled receptor binding (GO:0001664)|signaling pattern recognition receptor activity (GO:0008329)			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		TCTCTGCCTCGTCAGCCACCT	0.547																																						ENST00000371806.3		NA																	0				endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(679-681)gaC>gaT		ficolin (collagen/fibrinogen domain containing) 1		G		1,4405	2.1+/-5.4	0,1,2202	258.0	246.0	250.0		681	-6.7	0.0	9	dbSNP_134	250	0,8600		0,0,4300	no	coding-synonymous	FCN1	NM_002003.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		227/327	137803031	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2219				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	g.chr9:137803031G>A	D83920	CCDS6985.1	9q34	2013-02-06	2002-01-14		ENSG00000085265	ENSG00000085265		"""Fibrinogen C domain containing"""	3623	protein-coding gene	gene with protein product		601252	"""ficolin (collagen/fibrinogen domain-containing) 1"""			8573080, 8884275	Standard	NM_002003		Approved	FCNM	uc004cfi.3	O00602	OTTHUMG00000020895	ENST00000371806.3:c.681C>T	9.37:g.137803031G>A		False	False		Somatic	0					p.D227D	NM_002003.3	NP_001994.2	WXS	Illumina HiSeq	Phase_I	O00602	FCN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)	8	772	-		Myeloproliferative disorder(178;0.0333)	227			Fibrinogen C-terminal.		Q5VYV5|Q92596	Silent	SNP	ENST00000371806.3	37	c.681C>T	CCDS6985.1																																																																																				0.547	FCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054963.1	0	NM_002003		9:137803031
COL4A1	1282	broad.mit.edu	37	13	110822921	110822921	+	Missense_Mutation	SNP	C	C	T			TCGA-RB-AA9M-01A-11D-A397-08	TCGA-RB-AA9M-10A-01D-A39A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	2bbf211a-67f7-4120-8fd4-3b3e56a3f1cc	3ca35289-4e81-450e-9e04-6bd0be0b1642	g.chr13:110822921C>T	ENST00000375820.4	-	42	3836	c.3715G>A	c.(3715-3717)Gga>Aga	p.G1239R		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1239	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCCTGAGGTCCGCGGTCTCCT	0.627																																						ENST00000375820.4		NA																	0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(3715-3717)Gga>Aga		collagen, type IV, alpha 1																																				SO:0001583	missense	1282				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	g.chr13:110822921C>T	J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.3715G>A	13.37:g.110822921C>T	ENSP00000364979:p.Gly1239Arg	False	False		Somatic	0					p.G1239R	NM_001845.4	NP_001836.2	WXS	Illumina HiSeq	Phase_I	P02462	CO4A1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)		42	3836	-	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	1239			Triple-helical region.		A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	ENST00000375820.4	37	c.3715G>A	CCDS9511.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862753	0.91511	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	D	0.99637	-6.29	4.79	4.79	0.61399	.	0.057832	0.64402	D	0.000002	D	0.99813	0.9918	H	0.98089	4.145	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96593	0.9439	10	0.87932	D	0	.	17.9168	0.88954	0.0:1.0:0.0:0.0	.	1239	P02462	CO4A1_HUMAN	R	882;1239;888	ENSP00000364979:G1239R	ENSP00000364973:G882R	G	-	1	0	COL4A1	109620922	1.000000	0.71417	0.541000	0.28102	0.929000	0.56500	7.171000	0.77595	2.198000	0.70561	0.650000	0.86243	GGA		0.627	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045759.3	0			13:110822921
