#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
KCNC4	3749	broad.mit.edu	37	1	110754401	110754403	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr1:110754401_110754403delTTC	ENST00000369787.3	+	1	307_309	c.280_282delTTC	c.(280-282)ttcdel	p.F96del	KCNC4_ENST00000413138.3_In_Frame_Del_p.F96del|KCNC4-AS1_ENST00000455967.1_RNA|KCNC4_ENST00000438661.2_In_Frame_Del_p.F96del	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	96					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		gggctgcgAGTTCTTCTTCGACA	0.734																																						uc009wfr.3																			0				central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32						c.(280-282)ttcdel		Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 4 (KCNC4), transcript variant 3, mRNA.																																				SO:0001651	inframe_deletion	3749				synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr1:110754401_110754403delTTC	BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.280_282delTTC	1.37:g.110754407_110754409delTTC	ENSP00000358802:p.Phe96del					KCNC4_uc001dzf.3_In_Frame_Del_p.F96del|KCNC4_uc001dzh.3_In_Frame_Del_p.F96del|KCNC4_uc001dzi.3_Non-coding_Transcript|KCNC4_uc001dzg.3_In_Frame_Del_p.F96del	p.F96del	NM_001039574	NP_001034663	Q03721	KCNC4_HUMAN		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)	0	1066_1068	+		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)	96					Q3MIM4|Q5TBI6	In_Frame_Del	DEL	ENST00000369787.3	37	c.280_282delTTC	CCDS821.1																																																																																				0.734	KCNC4-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052146.2	NM_001039574	
TDRD10	126668	broad.mit.edu	37	1	154516509	154516509	+	Missense_Mutation	SNP	G	G	A	rs143192137	byFrequency	TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr1:154516509G>A	ENST00000368480.3	+	9	659	c.574G>A	c.(574-576)Gtc>Atc	p.V192I	TDRD10_ENST00000368482.4_Missense_Mutation_p.V192I|TDRD10_ENST00000479937.1_3'UTR			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	192							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATCCATAGCGTCCGTGGGGA	0.612																																						uc009wow.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						c.(574-576)Gtc>Atc		Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.		A	ILE/VAL,ILE/VAL	0,4406		0,0,2203	144.0	122.0	130.0		574,574	-8.7	0.0	1	dbSNP_134	130	4,8596	3.7+/-12.6	0,4,4296	yes	missense,missense	TDRD10	NM_001098475.1,NM_182499.3	29,29	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	benign,benign	192/367,192/352	154516509	4,13002	2203	4300	6503	SO:0001583	missense	126668						nucleotide binding|RNA binding	g.chr1:154516509G>A	AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.574G>A	1.37:g.154516509G>A	ENSP00000357465:p.Val192Ile					TDRD10_uc001ffd.3_Missense_Mutation_p.V192I|TDRD10_uc001ffe.3_Missense_Mutation_p.V113I	p.V192I	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		8	1412	+	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		192					A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	ENST00000368480.3	37	c.574G>A	CCDS41406.1	.	.	.	.	.	.	.	.	.	.	g	0.005	-2.214761	0.00289	0.0	4.65E-4	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.22945	1.96;1.93	4.35	-8.69	0.00855	.	3.828960	0.01306	N	0.010464	T	0.01558	0.0050	N	0.02916	-0.46	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.06570	-1.0819	10	0.10902	T	0.67	-0.5355	4.888	0.13713	0.2378:0.0905:0.5031:0.1686	.	192;192	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	I	192	ENSP00000357467:V192I;ENSP00000357465:V192I	ENSP00000357465:V192I	V	+	1	0	TDRD10	152783133	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.792000	0.00766	-4.537000	0.00043	-1.764000	0.00666	GTC		0.612	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2	NM_182499	
CACNA1S	779	broad.mit.edu	37	1	201009210	201009210	+	Splice_Site	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr1:201009210C>T	ENST00000362061.3	-	44	5597	c.5371G>A	c.(5371-5373)Gct>Act	p.A1791T	CACNA1S_ENST00000367338.3_Splice_Site_p.A1772T|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1791					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGAACCAGAGCCTGCAGGGAG	0.617																																						uc001gvv.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.e44-1		Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						47.0	49.0	48.0					1																	201009210		2203	4300	6503	SO:0001630	splice_region_variant	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201009210C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.5371-1G>A	1.37:g.201009210C>T							p.A1791_splice	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			44	5598	-			1791					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.5371_splice	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	20.4	3.982334	0.74474	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	T;T	0.54675	0.56;0.56	4.93	4.93	0.64822	.	.	.	.	.	T	0.56352	0.1979	M	0.61703	1.905	0.53005	D	0.999963	P	0.34562	0.457	B	0.38985	0.287	T	0.61584	-0.7033	9	0.59425	D	0.04	.	16.6807	0.85291	0.0:1.0:0.0:0.0	.	1791	Q13698	CAC1S_HUMAN	T	1791;1772	ENSP00000355192:A1791T;ENSP00000356307:A1772T	ENSP00000355192:A1791T	A	-	1	0	CACNA1S	199275833	1.000000	0.71417	1.000000	0.80357	0.785000	0.44390	6.312000	0.72840	2.285000	0.76669	0.404000	0.27445	GCT		0.617	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069	Missense_Mutation
EDARADD	128178	broad.mit.edu	37	1	236590728	236590728	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr1:236590728G>A	ENST00000334232.4	+	4	364	c.197G>A	c.(196-198)cGa>cAa	p.R66Q	EDARADD_ENST00000359362.5_Missense_Mutation_p.R56Q	NM_145861.2	NP_665860.2	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	66					cell differentiation (GO:0030154)|hair follicle development (GO:0001942)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	cytoplasm (GO:0005737)		p.R66Q(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AACTGCCCACGAAATTCAGAT	0.289																																						uc001hxu.1																			1	Substitution - Missense(1)	p.R66Q(2)	skin(1)	endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12						c.(196-198)cGa>cAa		Homo sapiens EDAR-associated death domain (EDARADD), transcript variant A, mRNA.							37.0	39.0	38.0					1																	236590728		2201	4295	6496	SO:0001583	missense	128178				cell differentiation|signal transduction	cytoplasm		g.chr1:236590728G>A	AY028914	CCDS1610.1, CCDS31065.1	1q42.3	2013-05-22			ENSG00000186197	ENSG00000186197			14341	protein-coding gene	gene with protein product		606603				11780064	Standard	NM_145861		Approved		uc001hxu.1	Q8WWZ3	OTTHUMG00000039954	ENST00000334232.4:c.197G>A	1.37:g.236590728G>A	ENSP00000335076:p.Arg66Gln					EDARADD_uc001hxv.1_Missense_Mutation_p.R56Q	p.R66Q	NM_145861	NP_665860	Q8WWZ3	EDAD_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		3	262	+	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	66					A2VCK5|A8K7B5|B1AL54|B9ZVW5|Q5VYJ7	Missense_Mutation	SNP	ENST00000334232.4	37	c.197G>A	CCDS1610.1	.	.	.	.	.	.	.	.	.	.	G	7.024	0.559261	0.13436	.	.	ENSG00000186197	ENST00000439430;ENST00000334232;ENST00000359362	T;T;T	0.80304	0.95;-0.79;-1.36	4.08	2.23	0.28157	.	1.122940	0.07053	U	0.832341	T	0.62660	0.2446	N	0.08118	0	0.09310	N	1	B;B	0.15719	0.002;0.014	B;B	0.12837	0.0;0.008	T	0.51919	-0.8644	10	0.40728	T	0.16	.	5.9293	0.19130	0.0:0.7013:0.1948:0.1039	.	56;66	A8K7B5;Q8WWZ3	.;EDAD_HUMAN	Q	44;66;56	ENSP00000405815:R44Q;ENSP00000335076:R66Q;ENSP00000352320:R56Q	ENSP00000335076:R66Q	R	+	2	0	EDARADD	234657351	0.000000	0.05858	0.023000	0.16930	0.123000	0.20343	0.518000	0.22847	0.687000	0.31509	-0.714000	0.03626	CGA		0.289	EDARADD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000096368.1	NM_145861	
PTEN	5728	broad.mit.edu	37	10	89692841	89692841	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr10:89692841G>A	ENST00000371953.3	+	5	1682	c.325G>A	c.(325-327)Gac>Aac	p.D109N		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	109	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.L108_D109del(2)|p.D109fs*6(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGAAGATCTTGACCAATGGCT	0.383		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		53	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Deletion - In frame(2)|Insertion - Frameshift(1)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.L108_D109del(4)|p.L108R(3)|p.Y27_N212>Y(2)|p.Y27fs*1(2)|p.D109fs*6(2)|p.F56fs*2(1)|p.L108P(1)	prostate(16)|central_nervous_system(12)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|endometrium(2)|soft_tissue(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771	GRCh37	CD993696	PTEN	D		c.(325-327)Gac>Aac		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.							123.0	113.0	117.0					10																	89692841		2203	4297	6500	SO:0001583	missense	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692841G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.325G>A	10.37:g.89692841G>A	ENSP00000361021:p.Asp109Asn	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.D109N	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	4	1357	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	109			Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.325G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	34	5.353585	0.95830	.	.	ENSG00000171862	ENST00000371953	D	0.98701	-5.08	5.07	5.07	0.68467	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98760	0.9583	L	0.53729	1.69	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99659	1.0993	9	.	.	.	-9.5031	18.4584	0.90729	0.0:0.0:1.0:0.0	.	109	P60484	PTEN_HUMAN	N	109	ENSP00000361021:D109N	.	D	+	1	0	PTEN	89682821	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.425000	0.97467	2.318000	0.78349	0.655000	0.94253	GAC		0.383	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
SHOC2	8036	broad.mit.edu	37	10	112696659	112696659	+	Intron	SNP	A	A	G			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr10:112696659A>G	ENST00000369452.4	+	1	111				SHOC2_ENST00000489390.1_Intron|SHOC2_ENST00000265277.5_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)						fibroblast growth factor receptor signaling pathway (GO:0008543)|positive regulation of Ras protein signal transduction (GO:0046579)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein phosphatase type 1 complex (GO:0000164)	protein phosphatase binding (GO:0019903)|protein phosphatase regulator activity (GO:0019888)	p.P111P(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		TCTTGTCGTAAGGCGGTGGGA	0.577																																						uc010qrh.1																			1	Substitution - coding silent(1)	p.P111P(1)	prostate(1)								c.(331-333)ccT>ccC		Homo sapiens ribosomal protein L13a pseudogene 6 (RPL13AP6), non-coding RNA.																																				SO:0001627	intron_variant	644511							g.chr10:112696659A>G	AB020669	CCDS7568.1, CCDS58095.1	10q25	2014-09-17	2001-11-28		ENSG00000108061	ENSG00000108061			15454	protein-coding gene	gene with protein product		602775	"""soc-2 (suppressor of clear, C.elegans) homolog"""			9618511, 9674433, 10783161	Standard	NM_007373		Approved	KIAA0862, SOC2, SUR-8, SOC-2, SUR8	uc001kzl.4	Q9UQ13	OTTHUMG00000019047	ENST00000369452.4:c.-235+17244A>G	10.37:g.112696659A>G						SHOC2_uc001kzl.4_Intron|SHOC2_uc009xxx.3_Intron|SHOC2_uc010qrg.2_Intron	p.P111P							0	355	-								A8K9W8|B3KR23|O76063|Q5VZS8|Q5VZS9	Silent	SNP	ENST00000369452.4	37	c.333T>C	CCDS7568.1																																																																																				0.577	SHOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050355.1	NM_007373	
SCGB1C1	147199	broad.mit.edu	37	11	193135	193135	+	Silent	SNP	C	C	T	rs377318266		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr11:193135C>T	ENST00000342878.2	+	1	56	c.36C>T	c.(34-36)ctC>ctT	p.L12L	BET1L_ENST00000410108.1_Intron	NM_145651.2	NP_663626.2	Q8TD33	SG1C1_HUMAN	secretoglobin, family 1C, member 1	12						extracellular region (GO:0005576)				endometrium(1)|liver(2)|lung(1)|skin(1)	5		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGGTGGCCCTCACCCTGTTCT	0.612																																						uc001loa.1																			0				endometrium(1)|liver(2)|lung(1)|skin(1)	5						c.(34-36)ctC>ctT		Homo sapiens secretoglobin, family 1C, member 1 (SCGB1C1), mRNA.		C		1,4253		0,1,2126	70.0	82.0	78.0		36	-0.5	0.0	11		78	0,8508		0,0,4254	no	coding-synonymous	SCGB1C1	NM_145651.2		0,1,6380	TT,TC,CC		0.0,0.0235,0.0078		12/96	193135	1,12761	2127	4254	6381	SO:0001819	synonymous_variant	147199					extracellular region	binding	g.chr11:193135C>T	AY026938	CCDS41581.1	11p15.5	2011-12-14			ENSG00000188076	ENSG00000188076		"""Secretoglobins"""	18394	protein-coding gene	gene with protein product		610176				22155607	Standard	NM_145651		Approved	RYD5	uc001loa.1	Q8TD33	OTTHUMG00000165539	ENST00000342878.2:c.36C>T	11.37:g.193135C>T							p.L12L	NM_145651	NP_663626	Q8TD33	SG1C1_HUMAN		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)	0	56	+		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	12					A8MSI9|Q14DW0	Silent	SNP	ENST00000342878.2	37	c.36C>T	CCDS41581.1																																																																																				0.612	SCGB1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384759.1	NM_145651	
DCDC1	341019	broad.mit.edu	37	11	31086167	31086167	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr11:31086167G>T	ENST00000597505.1	-	18	2439	c.2440C>A	c.(2440-2442)Caa>Aaa	p.Q814K	DCDC1_ENST00000437348.1_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction (GO:0035556)					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCACTTTCTTGCAGAACCTAA	0.398																																						uc009yjk.1																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						c.(784-786)Caa>Aaa		Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.							78.0	77.0	78.0					11																	31086167		1850	4091	5941	SO:0001583	missense	100506627				intracellular signal transduction			g.chr11:31086167G>T	AY247970	CCDS7872.1	11p14.1	2013-05-22			ENSG00000170959	ENSG00000170959			20625	protein-coding gene	gene with protein product		608062				12820024	Standard	NM_181807		Approved		uc001msv.3	P59894	OTTHUMG00000150144	ENST00000597505.1:c.2440C>A	11.37:g.31086167G>T	ENSP00000472625:p.Gln814Lys					DCDC5_uc009yjl.1_Missense_Mutation_p.Q190K|DCDC5_uc001msu.2_Missense_Mutation_p.Q433K	p.Q262K	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN			7	853	-			0					A6PVL6|B7WNX6|Q6ZU04	Missense_Mutation	SNP	ENST00000597505.1	37	c.784C>A																																																																																					0.398	DCDC1-010	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000463167.1	NM_181807	
CKAP5	9793	broad.mit.edu	37	11	46792527	46792527	+	Silent	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr11:46792527C>T	ENST00000529230.1	-	25	3043	c.2997G>A	c.(2995-2997)ctG>ctA	p.L999L	CKAP5_ENST00000415402.1_Silent_p.L999L|CKAP5_ENST00000354558.3_Silent_p.L999L|CKAP5_ENST00000312055.5_Silent_p.L999L			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	999					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)		p.L999L(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CCAGCCAGCCCAGAAGCTGCC	0.428																																					Ovarian(4;85 273 2202 4844 13323)	uc001ndi.2																			1	Substitution - coding silent(1)	p.L999L(2)	endometrium(1)	breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(2995-2997)ctG>ctA		Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.							70.0	70.0	70.0					11																	46792527		2201	4299	6500	SO:0001819	synonymous_variant	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding	g.chr11:46792527C>T		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.2997G>A	11.37:g.46792527C>T						CKAP5_uc009ylg.1_Silent_p.L885L|CKAP5_uc001ndj.2_Silent_p.L999L|CKAP5_uc001ndh.1_5'Flank	p.L999L	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN			24	3123	-			999					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Silent	SNP	ENST00000529230.1	37	c.2997G>A	CCDS31477.1																																																																																				0.428	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756	
NOX4	50507	broad.mit.edu	37	11	89073317	89073317	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr11:89073317G>A	ENST00000263317.4	-	15	1598	c.1360C>T	c.(1360-1362)Ctt>Ttt	p.L454F	NOX4_ENST00000525196.1_Missense_Mutation_p.L218F|NOX4_ENST00000535633.1_Missense_Mutation_p.L430F|NOX4_ENST00000542487.1_Missense_Mutation_p.L430F|NOX4_ENST00000527626.1_Missense_Mutation_p.L288F|NOX4_ENST00000534731.1_Missense_Mutation_p.L414F|NOX4_ENST00000532825.1_Missense_Mutation_p.L390F|NOX4_ENST00000424319.1_Missense_Mutation_p.L430F|NOX4_ENST00000413594.2_Missense_Mutation_p.L475F|NOX4_ENST00000343727.5_Missense_Mutation_p.L430F|NOX4_ENST00000375979.3_Missense_Mutation_p.L147F|NOX4_ENST00000528341.1_Missense_Mutation_p.L429F|NOX4_ENST00000527956.1_Missense_Mutation_p.L430F|NOX4_ENST00000531342.1_Missense_Mutation_p.L107F			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	454	Mediates interaction with TLR4.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTCTTCTAAGCTTGTATGGT	0.323																																						uc001pct.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44						c.(1360-1362)Ctt>Ttt		Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.							114.0	113.0	113.0					11																	89073317		2201	4298	6499	SO:0001583	missense	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89073317G>A	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.1360C>T	11.37:g.89073317G>A	ENSP00000263317:p.Leu454Phe					NOX4_uc009yvr.3_Missense_Mutation_p.L429F|NOX4_uc001pcu.3_Missense_Mutation_p.L380F|NOX4_uc001pcw.3_Missense_Mutation_p.L147F|NOX4_uc001pcx.3_Missense_Mutation_p.L107F|NOX4_uc001pcv.3_Missense_Mutation_p.L414F|NOX4_uc009yvo.3_Non-coding_Transcript|NOX4_uc010rtu.2_Missense_Mutation_p.L288F|NOX4_uc009yvp.3_Missense_Mutation_p.L218F|NOX4_uc010rtv.2_Missense_Mutation_p.L390F|NOX4_uc009yvq.3_Missense_Mutation_p.L430F	p.L454F	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN			14	1599	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	454			Mediates interaction with TLR4.		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	c.1360C>T	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	G	18.26	3.584633	0.65992	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594;ENST00000531342;ENST00000375979	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95238	-3.65;-3.65;-3.65;-3.65;-3.65;-3.65;-3.65;-3.65;-3.65;-3.65;-3.65;-3.65;-3.65;-3.65	5.55	3.62	0.41486	Ferric reductase, NAD binding (1);	0.000000	0.85682	D	0.000000	D	0.96629	0.8900	M	0.84948	2.725	0.46222	D	0.99893	P;D;D;D;B;P;D;P	0.76494	0.915;0.979;0.999;0.999;0.019;0.51;0.98;0.542	P;D;D;D;B;B;P;P	0.75020	0.835;0.952;0.983;0.985;0.018;0.228;0.887;0.489	D	0.95971	0.8970	9	.	.	.	-14.0312	8.2816	0.31904	0.1416:0.0:0.733:0.1254	.	390;288;429;218;107;147;414;454	E9PMY6;E9PR43;E9PPP2;E9PI95;Q9NPH5-3;Q9NPH5-4;Q9NPH5-6;Q9NPH5	.;.;.;.;.;.;.;NOX4_HUMAN	F	430;430;430;414;218;454;390;430;430;288;429;475;107;147	ENSP00000412446:L430F;ENSP00000440172:L430F;ENSP00000344747:L430F;ENSP00000436892:L414F;ENSP00000436716:L218F;ENSP00000263317:L454F;ENSP00000434924:L390F;ENSP00000433797:L430F;ENSP00000439373:L430F;ENSP00000436093:L288F;ENSP00000436970:L429F;ENSP00000405705:L475F;ENSP00000435039:L107F;ENSP00000365146:L147F	.	L	-	1	0	NOX4	88712965	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.304000	0.43655	1.313000	0.45069	0.460000	0.39030	CTT		0.323	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931	
PPP2R1B	5519	broad.mit.edu	37	11	111613292	111613292	+	Missense_Mutation	SNP	T	T	C	rs367938997		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr11:111613292T>C	ENST00000527614.1	-	13	1717	c.1652A>G	c.(1651-1653)aAt>aGt	p.N551S	PPP2R1B_ENST00000341980.6_Missense_Mutation_p.N506S|PPP2R1B_ENST00000311129.5_Missense_Mutation_p.N551S|PPP2R1B_ENST00000427203.2_Missense_Mutation_p.N390S|PPP2R1B_ENST00000393055.2_Missense_Mutation_p.N424S|PPP2R1B_ENST00000426998.2_Missense_Mutation_p.N487S	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	551					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TTTGGCCACATTGAAGCGAAC	0.368																																						uc001plw.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22						c.(1651-1653)aAt>aGt		Homo sapiens protein phosphatase 2, regulatory subunit A, beta (PPP2R1B), transcript variant 2, mRNA.		T	SER/ASN,SER/ASN,SER/ASN,SER/ASN,SER/ASN	2,4400	4.2+/-10.8	0,2,2199	101.0	93.0	96.0		1517,1271,1652,1652,1460	5.5	1.0	11		96	0,8594		0,0,4297	no	missense,missense,missense,missense,missense	PPP2R1B	NM_001177562.1,NM_001177563.1,NM_002716.4,NM_181699.2,NM_181700.1	46,46,46,46,46	0,2,6496	CC,CT,TT		0.0,0.0454,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	506/557,424/475,551/602,551/668,487/604	111613292	2,12994	2201	4297	6498	SO:0001583	missense	5519						protein binding	g.chr11:111613292T>C	AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.1652A>G	11.37:g.111613292T>C	ENSP00000437193:p.Asn551Ser					PPP2R1B_uc010rwi.1_Missense_Mutation_p.N487S|PPP2R1B_uc001plx.1_Missense_Mutation_p.N551S|PPP2R1B_uc010rwk.1_Missense_Mutation_p.N506S|PPP2R1B_uc010rwl.1_Missense_Mutation_p.N424S|PPP2R1B_uc010rwj.1_Missense_Mutation_p.N390S	p.N551S	NM_181699	NP_859050	P30154	2AAB_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)	12	1736	-		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	551					A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	ENST00000527614.1	37	c.1652A>G	CCDS8349.1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.757230	0.69648	4.54E-4	0.0	ENSG00000137713	ENST00000311129;ENST00000426998;ENST00000527614;ENST00000427203;ENST00000341980;ENST00000393055	T;T;T;T;T;T	0.16324	2.35;2.35;2.35;2.35;2.35;2.35	5.47	5.47	0.80525	Armadillo-like helical (1);Armadillo-type fold (1);	0.181905	0.64402	D	0.000020	T	0.40886	0.1135	M	0.93062	3.375	0.58432	D	0.999993	P;P;P;P;P;B	0.45957	0.624;0.824;0.869;0.735;0.491;0.374	P;P;B;B;B;B	0.49561	0.542;0.615;0.333;0.34;0.118;0.177	T	0.53486	-0.8432	10	0.72032	D	0.01	-17.2351	13.5081	0.61495	0.0:0.0:0.0:1.0	.	424;506;390;487;551;551	A8MY67;F8W8G1;B7Z1G3;B4DWW5;P30154;P30154-2	.;.;.;.;2AAB_HUMAN;.	S	551;487;551;390;506;424	ENSP00000311344:N551S;ENSP00000410671:N487S;ENSP00000437193:N551S;ENSP00000415759:N390S;ENSP00000343317:N506S;ENSP00000376775:N424S	ENSP00000311344:N551S	N	-	2	0	PPP2R1B	111118502	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.606000	0.82863	2.080000	0.62538	0.454000	0.30748	AAT		0.368	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391298.1	NM_002716	
GALNT8	26290	broad.mit.edu	37	12	4854615	4854615	+	Missense_Mutation	SNP	G	G	A	rs375631897		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr12:4854615G>A	ENST00000252318.2	+	5	1218	c.881G>A	c.(880-882)cGg>cAg	p.R294Q		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	294	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.R294Q(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						ATCTTGGCTCGGATTCAGGAG	0.478																																					Colon(108;631 1558 7270 20097 39846)	uc001qne.1																			1	Substitution - Missense(1)	p.R294Q(2)	lung(1)	central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						c.(880-882)cGg>cAg		Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8) (GALNT8), mRNA.		G	GLN/ARG	0,4406		0,0,2203	116.0	95.0	102.0		881	2.3	0.9	12		102	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNT8	NM_017417.1	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	294/638	4854615	1,13005	2203	4300	6503	SO:0001583	missense	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4854615G>A	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.881G>A	12.37:g.4854615G>A	ENSP00000252318:p.Arg294Gln						p.R294Q	NM_017417	NP_059113	Q9NY28	GALT8_HUMAN			4	973	+			294			Catalytic subdomain A.		B2RU02	Missense_Mutation	SNP	ENST00000252318.2	37	c.881G>A	CCDS8533.1	.	.	.	.	.	.	.	.	.	.	G	16.41	3.114838	0.56505	0.0	1.16E-4	ENSG00000130035	ENST00000252318	T	0.61627	0.09	4.11	2.28	0.28536	Glycosyl transferase, family 2 (1);	0.081559	0.48767	D	0.000161	T	0.51058	0.1652	L	0.53729	1.69	0.23991	N	0.996244	P	0.52842	0.956	B	0.43990	0.438	T	0.48007	-0.9072	10	0.66056	D	0.02	.	8.3468	0.32277	0.1986:0.0:0.8014:0.0	.	294	Q9NY28	GALT8_HUMAN	Q	294	ENSP00000252318:R294Q	ENSP00000252318:R294Q	R	+	2	0	GALNT8	4724876	0.932000	0.31603	0.916000	0.36221	0.946000	0.59487	2.460000	0.45031	0.399000	0.25367	-0.332000	0.08345	CGG		0.478	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2	NM_017417	
CD163	9332	broad.mit.edu	37	12	7639557	7639557	+	Silent	SNP	C	C	T	rs374794909		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr12:7639557C>T	ENST00000359156.4	-	9	2278	c.2076G>A	c.(2074-2076)tcG>tcA	p.S692S	CD163_ENST00000432237.2_Silent_p.S692S|CD163_ENST00000539632.1_5'Flank|CD163_ENST00000541972.1_Silent_p.S680S|CD163_ENST00000396620.3_Silent_p.S725S	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	692					acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	ATGAATTGCACGAGGACAGTG	0.438																																						uc001qsz.3																			0		p.S692*(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						c.(2074-2076)tcG>tcA		Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.		C	,	1,4405	2.1+/-5.4	0,1,2202	103.0	91.0	95.0		2076,2076	-11.1	0.0	12		95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	CD163	NM_004244.5,NM_203416.3	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	692/1157,692/1122	7639557	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9332				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity	g.chr12:7639557C>T	Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2076G>A	12.37:g.7639557C>T						CD163_uc001qta.3_Silent_p.S692S|CD163_uc009zfw.2_Silent_p.S725S	p.S692S	NM_004244	NP_004235	Q86VB7	C163A_HUMAN			8	2204	-			692					C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	ENST00000359156.4	37	c.2076G>A	CCDS8578.1																																																																																				0.438	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399396.2	NM_004244, NM_203416	
SRGAP1	57522	broad.mit.edu	37	12	64509616	64509616	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr12:64509616G>A	ENST00000355086.3	+	18	2691	c.2167G>A	c.(2167-2169)Ggt>Agt	p.G723S	SRGAP1_ENST00000543397.1_Missense_Mutation_p.G660S|RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000357825.3_Missense_Mutation_p.G700S	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	723					axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAGTGAGCACGGTACATTGGA	0.413																																						uc010ssp.1																			0				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65						c.(2167-2169)Ggt>Agt		Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.							104.0	87.0	93.0					12																	64509616		2203	4300	6503	SO:0001583	missense	57522				axon guidance	cytosol		g.chr12:64509616G>A	AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.2167G>A	12.37:g.64509616G>A	ENSP00000347198:p.Gly723Ser					SRGAP1_uc001srv.2_Missense_Mutation_p.G660S	p.G723S	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)	17	2223	+			723					Q9H8A3|Q9P2P2	Missense_Mutation	SNP	ENST00000355086.3	37	c.2167G>A	CCDS8967.1	.	.	.	.	.	.	.	.	.	.	G	35	5.501678	0.96371	.	.	ENSG00000196935	ENST00000355086;ENST00000357825;ENST00000543397	T;T;T	0.18338	3.26;2.81;2.22	4.93	4.93	0.64822	Src homology-3 domain (1);	0.000000	0.35739	U	0.003006	T	0.22126	0.0533	L	0.45285	1.41	0.80722	D	1	P;P	0.46220	0.667;0.874	B;P	0.45712	0.154;0.491	T	0.01053	-1.1467	9	.	.	.	.	18.537	0.91014	0.0:0.0:1.0:0.0	.	723;660	Q7Z6B7;G5EA48	SRGP1_HUMAN;.	S	723;700;660	ENSP00000347198:G723S;ENSP00000350480:G700S;ENSP00000437948:G660S	.	G	+	1	0	SRGAP1	62795883	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.787000	0.99055	2.464000	0.83262	0.555000	0.69702	GGT		0.413	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400896.1		
ATP7B	540	broad.mit.edu	37	13	52516659	52516659	+	Missense_Mutation	SNP	G	G	A	rs368545738		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr13:52516659G>A	ENST00000242839.4	-	15	3431	c.3275C>T	c.(3274-3276)aCg>aTg	p.T1092M	ATP7B_ENST00000344297.5_Missense_Mutation_p.T885M|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000448424.2_Missense_Mutation_p.T1014M|ATP7B_ENST00000400370.3_Missense_Mutation_p.T662M|ATP7B_ENST00000400366.3_Missense_Mutation_p.T981M|ATP7B_ENST00000418097.2_Missense_Mutation_p.T1027M|ATP7B_ENST00000417240.2_Missense_Mutation_p.T303M	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1092					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CTGGAAGTCCGTGCAGTATCC	0.572									Wilson disease																													uc001vfw.2																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55						c.(3274-3276)aCg>aTg		Homo sapiens ATPase, Cu++ transporting, beta polypeptide (ATP7B), transcript variant 1, mRNA.		G	MET/THR,MET/THR	1,4001		0,1,2000	76.0	75.0	76.0		3275,2654	2.9	0.7	13		76	1,8367		0,1,4183	no	missense,missense	ATP7B	NM_000053.3,NM_001005918.2	81,81	0,2,6183	AA,AG,GG		0.012,0.025,0.0162	benign,benign	1092/1466,885/1259	52516659	2,12368	2001	4184	6185	SO:0001583	missense	540	Wilson disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52516659G>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.3275C>T	13.37:g.52516659G>A	ENSP00000242839:p.Thr1092Met					ATP7B_uc001vfy.2_Missense_Mutation_p.T981M|ATP7B_uc010adv.2_Missense_Mutation_p.T662M|ATP7B_uc001vfx.2_Missense_Mutation_p.T885M|ATP7B_uc010tgt.1_Missense_Mutation_p.T1027M|ATP7B_uc010tgu.1_Missense_Mutation_p.T1044M|ATP7B_uc010tgv.1_Missense_Mutation_p.T1014M|ATP7B_uc001vfv.2_Missense_Mutation_p.T364M|ATP7B_uc010tgs.1_Missense_Mutation_p.T303M	p.T1092M	NM_000053	NP_000044	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	14	3432	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	1092					Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Missense_Mutation	SNP	ENST00000242839.4	37	c.3275C>T	CCDS41892.1	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684217	0.29872	2.5E-4	1.2E-4	ENSG00000123191	ENST00000242839;ENST00000400366;ENST00000344297;ENST00000417240;ENST00000448424;ENST00000400370;ENST00000418097	D;D;D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-4.1;-4.1;-4.1	4.76	2.9	0.33743	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.380505	0.33327	N	0.005035	D	0.92919	0.7747	L	0.56124	1.755	0.24048	N	0.996052	P;P;P;B;B;P;P;B	0.43607	0.631;0.497;0.812;0.068;0.31;0.467;0.812;0.285	B;B;B;B;B;B;B;B	0.40741	0.119;0.174;0.19;0.019;0.137;0.061;0.19;0.339	D	0.86877	0.2039	10	0.49607	T	0.09	-7.9132	4.4665	0.11691	0.1804:0.0:0.5332:0.2864	.	1014;1044;1027;303;662;981;885;1092	E7ET55;B7ZLR4;F5H748;E7EQQ2;F5H562;P35670-3;P35670-2;P35670	.;.;.;.;.;.;.;ATP7B_HUMAN	M	1092;981;885;303;1014;662;1027	ENSP00000242839:T1092M;ENSP00000383217:T981M;ENSP00000342559:T885M;ENSP00000390360:T303M;ENSP00000416738:T1014M;ENSP00000383221:T662M;ENSP00000393343:T1027M	ENSP00000242839:T1092M	T	-	2	0	ATP7B	51414660	0.009000	0.17119	0.713000	0.30519	0.992000	0.81027	0.074000	0.14662	0.528000	0.28580	0.591000	0.81541	ACG		0.572	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053	
LMO7	4008	broad.mit.edu	37	13	76381854	76381854	+	Nonsense_Mutation	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr13:76381854C>T	ENST00000321797.8	+	8	1457	c.736C>T	c.(736-738)Cga>Tga	p.R246*	RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000357063.3_Nonsense_Mutation_p.R531*|LMO7_ENST00000377534.3_Nonsense_Mutation_p.R531*|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000465261.2_Nonsense_Mutation_p.R246*			Q8WWI1	LMO7_HUMAN	LIM domain 7	531					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R246R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ATATGTTCTCCGAGCTTTTGA	0.413																																						uc021rkq.1																			1	Substitution - coding silent(1)	p.R246R(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56						c.(1435-1437)Cga>Tga		Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.							82.0	79.0	80.0					13																	76381854		1568	3582	5150	SO:0001587	stop_gained	4008					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	g.chr13:76381854C>T	AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.736C>T	13.37:g.76381854C>T	ENSP00000317802:p.Arg246*					LMO7_uc010thv.2_Intron|LMO7_uc001vjt.1_Intron|LMO7_uc001vjv.3_Nonsense_Mutation_p.R246*|LMO7_uc010thw.2_Intron|LMO7_uc001vjw.1_Nonsense_Mutation_p.R152*	p.R479*	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN		GBM - Glioblastoma multiforme(99;0.0109)	9	1770	+		Breast(118;0.0992)	531					E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Nonsense_Mutation	SNP	ENST00000321797.8	37	c.1435C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	48|48	14.609380|14.609380	0.99803|0.99803	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000447038|ENST00000357063;ENST00000377534;ENST00000321797;ENST00000465261	.|.	.|.	.|.	5.83|5.83	5.83|5.83	0.93111|0.93111	.|.	.|0.478374	.|0.20856	.|N	.|0.084456	T|.	0.48696|.	0.1514|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.36672|.	-0.9738|.	3|.	.|0.02654	.|T	.|1	-0.661|-0.661	20.1162|20.1162	0.97934|0.97934	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	154|531;531;246;246	.|.	.|ENSP00000317802:R246X	P|R	+|+	2|1	0|2	LMO7|LMO7	75279855|75279855	1.000000|1.000000	0.71417|0.71417	0.961000|0.961000	0.40146|0.40146	0.975000|0.975000	0.68041|0.68041	5.489000|5.489000	0.66875|0.66875	2.756000|2.756000	0.94617|0.94617	0.655000|0.655000	0.94253|0.94253	CCG|CGA		0.413	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000045301.3	NM_005358	
SLITRK6	84189	broad.mit.edu	37	13	86370546	86370546	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr13:86370546G>C	ENST00000400286.2	-	2	696	c.98C>G	c.(97-99)tCt>tGt	p.S33C		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	33	LRRNT 1.				adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATTGCAAAGAGAATCACAAGA	0.403																																						uc001vll.1																			0				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(97-99)tCt>tGt		Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.							79.0	74.0	76.0					13																	86370546		1880	4110	5990	SO:0001583	missense	84189					integral to membrane		g.chr13:86370546G>C	AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.98C>G	13.37:g.86370546G>C	ENSP00000383143:p.Ser33Cys					SLITRK6_uc021rla.1_Missense_Mutation_p.S33C	p.S33C	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN		GBM - Glioblastoma multiforme(99;0.0456)	1	557	-	all_neural(89;0.117)|Medulloblastoma(90;0.163)		33			LRRNT 1.		A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	ENST00000400286.2	37	c.98C>G	CCDS41903.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207775	0.39003	.	.	ENSG00000184564	ENST00000400286	T	0.59224	0.28	6.17	5.31	0.75309	.	0.251075	0.40640	N	0.001052	T	0.52996	0.1769	L	0.56769	1.78	0.35587	D	0.806762	P	0.45348	0.856	B	0.39419	0.299	T	0.67677	-0.5609	10	0.59425	D	0.04	-12.8183	11.895	0.52652	0.0:0.1323:0.7304:0.1373	.	33	Q9H5Y7	SLIK6_HUMAN	C	33	ENSP00000383143:S33C	ENSP00000383143:S33C	S	-	2	0	SLITRK6	85268547	0.992000	0.36948	1.000000	0.80357	0.975000	0.68041	2.884000	0.48562	1.584000	0.49913	0.655000	0.94253	TCT		0.403	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045404.2	NM_032229	
SYT16	83851	broad.mit.edu	37	14	62550997	62550997	+	Silent	SNP	G	G	A	rs200581957		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr14:62550997G>A	ENST00000430451.2	+	5	1715	c.1518G>A	c.(1516-1518)gcG>gcA	p.A506A		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	506					exocytosis (GO:0006887)			p.A486A(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ATGGAGGGGCGCCAGAGCTGT	0.552													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17519	0.0		0.0	False		,,,				2504	0.0					uc001xfu.1																			2	Substitution - coding silent(2)	p.A486A(2)	upper_aerodigestive_tract(1)|large_intestine(1)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35						c.(1516-1518)gcG>gcA		Homo sapiens synaptotagmin XVI (SYT16), mRNA.		G		1,3997		0,1,1998	93.0	92.0	92.0		1518	1.6	1.0	14		92	0,8318		0,0,4159	no	coding-synonymous	SYT16	NM_031914.2		0,1,6157	AA,AG,GG		0.0,0.025,0.0081		506/646	62550997	1,12315	1999	4159	6158	SO:0001819	synonymous_variant	83851							g.chr14:62550997G>A	BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1518G>A	14.37:g.62550997G>A						SYT16_uc010tse.1_Silent_p.A64A	p.A506A	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)	4	1715	+			506					B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Silent	SNP	ENST00000430451.2	37	c.1518G>A	CCDS45121.1																																																																																				0.552	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000411700.1	NM_031914	
AHNAK2	113146	broad.mit.edu	37	14	105409667	105409667	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr14:105409667C>T	ENST00000333244.5	-	7	12240	c.12121G>A	c.(12121-12123)Gtg>Atg	p.V4041M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4041						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTCGGGCACGGGGCCCTCT	0.627																																						uc010axc.1																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(12121-12123)Gtg>Atg		Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.							104.0	110.0	108.0					14																	105409667		1886	4099	5985	SO:0001583	missense	113146					nucleus		g.chr14:105409667C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.12121G>A	14.37:g.105409667C>T	ENSP00000353114:p.Val4041Met					AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.V3941M	p.V4041M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		6	12241	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	4041					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.12121G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	-	0.023	-1.402119	0.01165	.	.	ENSG00000185567	ENST00000333244	T	0.01347	4.99	3.3	-6.59	0.01830	.	.	.	.	.	T	0.02083	0.0065	N	0.25890	0.77	0.09310	N	1	D	0.60575	0.988	P	0.56088	0.791	T	0.57219	-0.7849	9	0.46703	T	0.11	.	8.1202	0.30967	0.0753:0.119:0.5242:0.2814	.	4041	Q8IVF2	AHNK2_HUMAN	M	4041	ENSP00000353114:V4041M	ENSP00000353114:V4041M	V	-	1	0	AHNAK2	104480712	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.368000	0.00495	-6.047000	0.00007	-2.986000	0.00079	GTG		0.627	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
TEKT5	146279	broad.mit.edu	37	16	10788509	10788509	+	Silent	SNP	C	C	T	rs532956287		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr16:10788509C>T	ENST00000283025.2	-	1	293	c.222G>A	c.(220-222)ccG>ccA	p.P74P	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	74						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GGATGGTGGGCGGCCGCAGGG	0.642																																						uc002czz.1																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						c.(220-222)ccG>ccA		Homo sapiens tektin 5 (TEKT5), mRNA.							84.0	97.0	93.0					16																	10788509		2197	4300	6497	SO:0001819	synonymous_variant	146279				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr16:10788509C>T		CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.222G>A	16.37:g.10788509C>T							p.P74P	NM_144674	NP_653275	Q96M29	TEKT5_HUMAN			0	294	-			74					A1L3Z3	Silent	SNP	ENST00000283025.2	37	c.222G>A	CCDS10542.1																																																																																				0.642	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251963.1	NM_144674	
TANGO6	79613	broad.mit.edu	37	16	68893945	68893945	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr16:68893945C>A	ENST00000261778.1	+	2	265	c.253C>A	c.(253-255)Caa>Aaa	p.Q85K		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	85						integral component of membrane (GO:0016021)											AGAATGGCCACAAAACTCTGT	0.428																																						uc002ewi.4																			0				endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2)	20						c.(253-255)Caa>Aaa		Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.							117.0	109.0	112.0					16																	68893945		1882	4123	6005	SO:0001583	missense	79613					integral to membrane	binding	g.chr16:68893945C>A		CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.253C>A	16.37:g.68893945C>A	ENSP00000261778:p.Gln85Lys					TMCO7_uc002ewh.3_Missense_Mutation_p.Q85K	p.Q85K	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)	1	265	+		Ovarian(137;0.0568)	85					Q569F9|Q9H9K1	Missense_Mutation	SNP	ENST00000261778.1	37	c.253C>A	CCDS45516.1	.	.	.	.	.	.	.	.	.	.	C	10.81	1.454078	0.26161	.	.	ENSG00000103047	ENST00000261778	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	T	0.40932	0.1137	L	0.41027	1.25	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.17289	-1.0374	8	0.33141	T	0.24	-5.4015	13.7056	0.62636	0.0:0.8452:0.1548:0.0	.	85	Q9C0B7	TMCO7_HUMAN	K	85	.	ENSP00000261778:Q85K	Q	+	1	0	TMCO7	67451446	0.029000	0.19370	0.890000	0.34922	0.985000	0.73830	1.262000	0.32992	2.548000	0.85928	0.561000	0.74099	CAA		0.428	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433471.2	XM_928235.2	
PLCG2	5336	broad.mit.edu	37	16	81953214	81953214	+	Missense_Mutation	SNP	G	G	A	rs369516453		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr16:81953214G>A	ENST00000359376.3	+	20	2394	c.2180G>A	c.(2179-2181)cGa>cAa	p.R727Q		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	727	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TCACTCTACCGAAAGATGAGA	0.557																																						uc002fgt.3																			0				NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						c.(2179-2181)cGa>cAa		Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.		G	GLN/ARG	0,3888		0,0,1944	73.0	76.0	75.0		2180	5.2	1.0	16		75	1,8253		0,1,4126	no	missense	PLCG2	NM_002661.3	43	0,1,6070	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging	727/1266	81953214	1,12141	1944	4127	6071	SO:0001583	missense	5336				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	g.chr16:81953214G>A		CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.2180G>A	16.37:g.81953214G>A	ENSP00000352336:p.Arg727Gln					PLCG2_uc010chg.1_Missense_Mutation_p.R727Q	p.R727Q	NM_002661	NP_002652	P16885	PLCG2_HUMAN			19	2358	+			727			SH2 2.		D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	c.2180G>A	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	G	35	5.514341	0.96402	0.0	1.21E-4	ENSG00000197943	ENST00000359376	T	0.67865	-0.29	5.16	5.16	0.70880	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);SH2 motif (2);	0.000000	0.85682	D	0.000000	T	0.78923	0.4360	L	0.55990	1.75	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.68943	0.95;0.961	T	0.81093	-0.1089	10	0.87932	D	0	.	18.6547	0.91448	0.0:0.0:1.0:0.0	.	594;727	B4E3H3;P16885	.;PLCG2_HUMAN	Q	727	ENSP00000352336:R727Q	ENSP00000352336:R727Q	R	+	2	0	PLCG2	80510715	1.000000	0.71417	0.981000	0.43875	0.801000	0.45260	9.671000	0.98627	2.392000	0.81423	0.655000	0.94253	CGA		0.557	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1		
NECAB2	54550	broad.mit.edu	37	16	84035467	84035467	+	Missense_Mutation	SNP	G	G	A	rs547664063	byFrequency	TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr16:84035467G>A	ENST00000305202.4	+	12	1095	c.1078G>A	c.(1078-1080)Gtc>Atc	p.V360I	NECAB2_ENST00000565691.1_Missense_Mutation_p.V277I	NM_019065.2	NP_061938.2	Q7Z6G3	NECA2_HUMAN	N-terminal EF-hand calcium binding protein 2	360	ABM.					cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						GTTCCGGCACGTCAAGGTGGA	0.647													G|||	2	0.000399361	0.0	0.0	5008	,	,		17068	0.001		0.0	False		,,,				2504	0.001					uc002fhd.3																			0				endometrium(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	19						c.(1078-1080)Gtc>Atc		Homo sapiens N-terminal EF-hand calcium binding protein 2 (NECAB2), mRNA.							61.0	52.0	55.0					16																	84035467		2200	4300	6500	SO:0001583	missense	54550				antibiotic biosynthetic process	cytoplasm	calcium ion binding|oxidoreductase activity|protein binding	g.chr16:84035467G>A	AY299331	CCDS10940.1	16q23.3-q24.1	2013-01-10	2007-12-06	2007-12-06	ENSG00000103154	ENSG00000103154		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	23746	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 2"""	EFCBP2		12044471	Standard	NM_019065		Approved		uc002fhd.3	Q7Z6G3	OTTHUMG00000137636	ENST00000305202.4:c.1078G>A	16.37:g.84035467G>A	ENSP00000307449:p.Val360Ile					NECAB2_uc002fhe.3_Missense_Mutation_p.V277I	p.V360I	NM_019065	NP_061938	Q7Z6G3	NECA2_HUMAN			11	1095	+			360			ABM.		A2RRG3|O75547|Q6ZSK0	Missense_Mutation	SNP	ENST00000305202.4	37	c.1078G>A	CCDS10940.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.859073	0.32884	.	.	ENSG00000103154	ENST00000305202	T	0.31247	1.5	5.09	1.73	0.24493	Dimeric alpha-beta barrel (1);	0.472701	0.21381	N	0.075472	T	0.24509	0.0594	L	0.56396	1.775	0.29737	N	0.83739	B	0.29115	0.233	B	0.20384	0.029	T	0.12941	-1.0528	10	0.30854	T	0.27	-31.1648	7.9328	0.29912	0.2859:0.0:0.7141:0.0	.	360	Q7Z6G3	NECA2_HUMAN	I	360	ENSP00000307449:V360I	ENSP00000307449:V360I	V	+	1	0	NECAB2	82592968	0.044000	0.20184	0.230000	0.23976	0.562000	0.35680	0.918000	0.28678	0.093000	0.17368	0.561000	0.74099	GTC		0.647	NECAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269077.2	NM_019065	
TLDC1	57707	broad.mit.edu	37	16	84529371	84529371	+	Missense_Mutation	SNP	C	C	T	rs146039021		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr16:84529371C>T	ENST00000343629.6	-	3	484	c.302G>A	c.(301-303)gGa>gAa	p.G101E	TLDC1_ENST00000561807.1_5'UTR|TLDC1_ENST00000535580.1_Missense_Mutation_p.G74E|RP11-517C16.4_ENST00000568771.1_RNA	NM_020947.3	NP_065998.3	Q6P9B6	TLDC1_HUMAN	TBC/LysM-associated domain containing 1	101						lysosomal membrane (GO:0005765)											CTCGGAGTTTCCTTTCAACAG	0.542																																						uc002fib.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(2)	18						c.(301-303)gGa>gAa		Homo sapiens KIAA1609 (KIAA1609), mRNA.		C	GLU/GLY	0,4400		0,0,2200	136.0	117.0	124.0		302	5.3	0.1	16	dbSNP_134	124	1,8599	1.2+/-3.3	0,1,4299	no	missense	KIAA1609	NM_020947.3	98	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	101/457	84529371	1,12999	2200	4300	6500	SO:0001583	missense	57707						protein binding	g.chr16:84529371C>T	AB046829	CCDS32498.1	16q24.1	2013-03-14	2013-03-14	2013-03-14	ENSG00000140950	ENSG00000140950			29325	protein-coding gene	gene with protein product	"""TLD domain containing 1"""		"""KIAA1609"""	KIAA1609		10997877	Standard	NM_020947		Approved		uc002fib.3	Q6P9B6	OTTHUMG00000176739	ENST00000343629.6:c.302G>A	16.37:g.84529371C>T	ENSP00000343635:p.Gly101Glu					KIAA1609_uc010vod.2_Missense_Mutation_p.G74E	p.G101E	NM_020947	NP_065998	Q6P9B6	K1609_HUMAN			2	409	-			101					Q8IZ64|Q9HCG3|Q9NTE8	Missense_Mutation	SNP	ENST00000343629.6	37	c.302G>A	CCDS32498.1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682701	0.68157	0.0	1.16E-4	ENSG00000140950	ENST00000343629;ENST00000535580	T;T	0.18338	2.22;2.22	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.43100	0.1232	M	0.76328	2.33	0.54753	D	0.999986	D;D	0.76494	0.999;0.999	D;D	0.72982	0.973;0.979	T	0.37361	-0.9709	10	0.87932	D	0	-10.3822	16.2151	0.82206	0.0:1.0:0.0:0.0	.	74;101	F5GWS3;Q6P9B6	.;K1609_HUMAN	E	101;74	ENSP00000343635:G101E;ENSP00000441997:G74E	ENSP00000343635:G101E	G	-	2	0	KIAA1609	83086872	0.989000	0.36119	0.087000	0.20705	0.411000	0.31082	4.735000	0.62051	2.479000	0.83701	0.563000	0.77884	GGA		0.542	TLDC1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433421.1	NM_020947	
GSG2	83903	broad.mit.edu	37	17	3628349	3628349	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr17:3628349C>T	ENST00000325418.4	+	1	1139	c.1120C>T	c.(1120-1122)Cct>Tct	p.P374S	ITGAE_ENST00000571185.1_Intron|CTD-3195I5.3_ENST00000571741.1_RNA|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	374					histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										GGACCTGACTCCTTTACAGAA	0.478																																						uc002fwp.3																			0											c.(1120-1122)Cct>Tct		Homo sapiens germ cell associated 2 (haspin) (GSG2), mRNA.							72.0	72.0	72.0					17																	3628349		2203	4300	6503	SO:0001583	missense	83903				cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr17:3628349C>T	AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1120C>T	17.37:g.3628349C>T	ENSP00000325290:p.Pro374Ser					ITGAE_uc002fwo.4_Intron|ITGAE_uc002fwn.4_5'Flank	p.P374S	NM_031965	NP_114171	Q8TF76	HASP_HUMAN			0	1153	+			374					Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	ENST00000325418.4	37	c.1120C>T	CCDS11036.1	.	.	.	.	.	.	.	.	.	.	C	8.757	0.922671	0.18056	.	.	ENSG00000177602	ENST00000325418	T	0.05199	3.48	4.61	0.242	0.15498	.	3.214470	0.01088	N	0.005131	T	0.04227	0.0117	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.39522	-0.9610	10	0.87932	D	0	-35.3413	4.2066	0.10491	0.1631:0.5682:0.0:0.2687	.	374	Q8TF76	HASP_HUMAN	S	374	ENSP00000325290:P374S	ENSP00000325290:P374S	P	+	1	0	GSG2	3575098	0.073000	0.21202	0.038000	0.18304	0.027000	0.11550	0.338000	0.19858	0.214000	0.20742	0.561000	0.74099	CCT		0.478	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207391.1	NM_031965	
TP53	7157	broad.mit.edu	37	17	7579374	7579374	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr17:7579374C>G	ENST00000269305.4	-	4	502	c.313G>C	c.(313-315)Ggc>Cgc	p.G105R	TP53_ENST00000359597.4_Missense_Mutation_p.G105R|TP53_ENST00000455263.2_Missense_Mutation_p.G105R|TP53_ENST00000420246.2_Missense_Mutation_p.G105R|TP53_ENST00000445888.2_Missense_Mutation_p.G105R|TP53_ENST00000413465.2_Missense_Mutation_p.G105R|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	105	Interaction with HIPK1. {ECO:0000250}.|Interaction with WWOX.|Required for interaction with ZNF385A.		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.G105C(5)|p.Q100fs*37(3)|p.G59fs*23(3)|p.G105R(2)|p.G105fs*18(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G105S(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)|p.Y103fs*15(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CCGTAGCTGCCCTGGTAGGTT	0.627		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.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"""		31	Deletion - Frameshift(12)|Substitution - Missense(8)|Whole gene deletion(8)|Complex - deletion inframe(2)|Deletion - In frame(1)	p.G105C(10)|p.Q104*(9)|p.0?(8)|p.G105R(4)|p.G105fs*18(4)|p.Q100fs*37(3)|p.G59fs*23(3)|p.G105S(2)|p.G105D(2)|p.Y103_G112>C(2)|p.Y103_L111>L(2)|p.G105_T125del21(2)|p.Q104fs*19(1)|p.W91fs*13(1)|p.V73fs*9(1)|p.G105V(1)|p.Y103_Q104>**(1)|p.S33fs*23(1)|p.G105G(1)|p.G105A(1)|p.P13fs*18(1)|p.Y103fs*15(1)|p.Q104H(1)|p.Q104L(1)	ovary(6)|lung(5)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(3)|central_nervous_system(3)|liver(2)|breast(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	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	CM043949	TP53	M		c.(313-315)Ggc>Cgc	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							55.0	55.0	55.0					17																	7579374		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579374C>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.313G>C	17.37:g.7579374C>G	ENSP00000269305:p.Gly105Arg	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.G105R|TP53_uc002gih.3_Missense_Mutation_p.G105R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Missense_Mutation_p.G105R|TP53_uc010cnh.1_Missense_Mutation_p.G105R|TP53_uc002gij.2_Missense_Mutation_p.G105R|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Missense_Mutation_p.G66R|TP53_uc010cnk.1_Missense_Mutation_p.G120R	p.G105R	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	3	507	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	105		G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in a sporadic cancer; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.313G>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.55	3.649097	0.67358	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99900	-7.63;-7.63;-7.63;-7.63;-7.63;-7.63;-7.63;-7.63	4.75	4.75	0.60458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99900	0.9952	M	0.90870	3.155	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.993;0.995;1.0;0.999;0.997;1.0	D	0.96097	0.9066	10	0.87932	D	0	-24.4789	15.6419	0.77012	0.0:1.0:0.0:0.0	.	66;105;105;105;105;105;105	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	R	105	ENSP00000410739:G105R;ENSP00000352610:G105R;ENSP00000269305:G105R;ENSP00000398846:G105R;ENSP00000391127:G105R;ENSP00000391478:G105R;ENSP00000424104:G105R;ENSP00000426252:G105R	ENSP00000269305:G105R	G	-	1	0	TP53	7520099	1.000000	0.71417	0.206000	0.23566	0.368000	0.29767	6.208000	0.72165	2.630000	0.89119	0.655000	0.94253	GGC		0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TOP3A	7156	broad.mit.edu	37	17	18210245	18210246	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr17:18210245_18210246delTC	ENST00000321105.5	-	4	563_564	c.349_350delGA	c.(349-351)gaafs	p.E117fs	TOP3A_ENST00000582230.1_5'Flank|TOP3A_ENST00000542570.1_Frame_Shift_Del_p.E22fs	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	117	Toprim. {ECO:0000255|PROSITE- ProRule:PRU00995}.				DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CTTTTCAATTTCTGCTTCAAAG	0.426																																						uc002gsx.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						c.(349-351)gaafs		Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.																																				SO:0001589	frameshift_variant	7156				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding	g.chr17:18210245_18210246delTC	U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.349_350delGA	17.37:g.18210245_18210246delTC	ENSP00000321636:p.Glu117fs					TOP3A_uc002gsw.1_5'UTR|TOP3A_uc010vxs.1_Frame_Shift_Del_p.E15fs|TOP3A_uc010cqa.1_Non-coding_Transcript	p.E117fs	NM_004618	NP_004609	Q13472	TOP3A_HUMAN			3	578_579	-			117			Toprim.		A8KA61|B4DK80|D3DXC7|Q13473	Frame_Shift_Del	DEL	ENST00000321105.5	37	c.349_350delGA	CCDS11194.1																																																																																				0.426	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132052.2		
NF1	4763	broad.mit.edu	37	17	29685497	29685497	+	Splice_Site	DEL	G	G	-			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr17:29685497delG	ENST00000358273.4	+	55	8353		c.e55-1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000417592.2_Splice_Site|NF1_ENST00000444181.2_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTTCTTTTAGGCATAATTTG	0.333			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												uc002hgg.3			yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	"""D, Mis, N, F, S, O"""	neurofibromatosis type 1 gene			O		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""	NF1/ACCN1(2)	12	Whole gene deletion(8)|Unknown(4)	p.0?(8)|p.?(4)	soft_tissue(7)|autonomic_ganglia(2)|lung(1)|central_nervous_system(1)|breast(1)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599						c.e55-1		Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.							59.0	57.0	58.0					17																	29685497		2203	4300	6503	SO:0001630	splice_region_variant	4763	Neurofibromatosis, type 1	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome	actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	g.chr17:29685497delG		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.7971-1G>-	17.37:g.29685497delG		TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				NF1_uc002hgh.3_Splice_Site_p.V2636_splice|NF1_uc010cso.3_Splice_Site_p.V845_splice|NF1_uc010wbt.1_Splice_Site_p.V135_splice|NF1_uc010wbu.1_Splice_Site	p.V2657_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)	55	8354	+		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)	2657					O00662|Q14284|Q14930|Q14931|Q9UMK3	Splice_Site	DEL	ENST00000358273.4	37	c.7971_splice	CCDS42292.1																																																																																				0.333	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	Intron
HNF1B	6928	broad.mit.edu	37	17	36065013	36065013	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr17:36065013G>A	ENST00000225893.4	-	6	1611	c.1250C>T	c.(1249-1251)aCg>aTg	p.T417M	HNF1B_ENST00000560016.1_Missense_Mutation_p.T417M|HNF1B_ENST00000427275.2_Missense_Mutation_p.T391M|HNF1B_ENST00000561193.1_Missense_Mutation_p.T391M	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	417					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGGATATTCGTCAAGGTGCT	0.478																																					Colon(71;102 1179 9001 27917 43397)	uc002hok.4																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28						c.(1249-1251)aCg>aTg		Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.							167.0	157.0	161.0					17																	36065013		2203	4300	6503	SO:0001583	missense	6928				endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:36065013G>A	BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.1250C>T	17.37:g.36065013G>A	ENSP00000225893:p.Thr417Met					HNF1B_uc021tvu.1_Missense_Mutation_p.T187M|HNF1B_uc010wdi.2_Missense_Mutation_p.T391M|HNF1B_uc021tvv.1_Missense_Mutation_p.T417M|HNF1B_uc021tvw.1_Missense_Mutation_p.T391M	p.T417M	NM_000458	NP_000449	P35680	HNF1B_HUMAN	STAD - Stomach adenocarcinoma(1;0.0142)		5	1471	-		Breast(25;0.00765)|Ovarian(249;0.15)	417					B4DKM3|E0YMJ9	Missense_Mutation	SNP	ENST00000225893.4	37	c.1250C>T	CCDS11324.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329005	0.81690	.	.	ENSG00000108753	ENST00000225893;ENST00000427275;ENST00000539087	D;D	0.98807	-5.15;-5.15	5.6	4.6	0.57074	Hepatocyte nuclear factor 1, beta isoform, C-terminal (1);	0.098510	0.64402	D	0.000001	D	0.99026	0.9667	M	0.80746	2.51	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99624	1.0984	10	0.87932	D	0	-28.7033	14.5755	0.68243	0.0:0.0:0.8528:0.1472	.	391;417	E0YMJ6;P35680	.;HNF1B_HUMAN	M	417;391;305	ENSP00000225893:T417M;ENSP00000412212:T391M	ENSP00000225893:T417M	T	-	2	0	HNF1B	33139126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	1.296000	0.44742	0.655000	0.94253	ACG		0.478	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458	
KRT23	25984	broad.mit.edu	37	17	39087633	39087633	+	Frame_Shift_Del	DEL	G	G	-			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr17:39087633delG	ENST00000209718.3	-	3	895	c.471delC	c.(469-471)ttcfs	p.F157fs	KRT23_ENST00000436344.3_Frame_Shift_Del_p.F20fs|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	157	Coil 1B.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				ACTTGAGGTTGAAGTCATCCA	0.438																																						uc002hvm.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(469-471)ttcfs		Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA.							160.0	141.0	147.0					17																	39087633		2203	4300	6503	SO:0001589	frameshift_variant	25984					intermediate filament	structural molecule activity	g.chr17:39087633delG	AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.471delC	17.37:g.39087633delG	ENSP00000209718:p.Phe157fs					KRT23_uc010wfl.1_Frame_Shift_Del_p.F20fs|KRT23_uc010cxf.1_5'UTR|KRT23_uc010cxg.3_Frame_Shift_Del_p.F157fs|KRT23_uc002hvn.1_Frame_Shift_Del_p.F157fs	p.F157fs	NM_015515	NP_056330	Q9C075	K1C23_HUMAN			2	1060	-		Breast(137;0.000301)|Ovarian(249;0.15)	157			Coil 1B.|Rod.		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Frame_Shift_Del	DEL	ENST00000209718.3	37	c.471delC	CCDS11380.1																																																																																				0.438	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257223.1		
EPX	8288	broad.mit.edu	37	17	56280591	56280591	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr17:56280591G>A	ENST00000225371.5	+	11	1968	c.1858G>A	c.(1858-1860)Gct>Act	p.A620T		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	620					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	TGGGGCCATCGCTGAGCCTCT	0.547																																						uc002ivq.3																			0				breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						c.(1858-1860)Gct>Act		Homo sapiens eosinophil peroxidase (EPX), mRNA.							80.0	84.0	83.0					17																	56280591		2203	4300	6503	SO:0001583	missense	8288				hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	g.chr17:56280591G>A	M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.1858G>A	17.37:g.56280591G>A	ENSP00000225371:p.Ala620Thr						p.A620T	NM_000502	NP_000493	P11678	PERE_HUMAN			10	1977	+			620					Q4TVP3	Missense_Mutation	SNP	ENST00000225371.5	37	c.1858G>A	CCDS11602.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.341527	0.81911	.	.	ENSG00000121053	ENST00000225371	T	0.72051	-0.62	5.96	4.0	0.46444	.	0.048747	0.85682	D	0.000000	T	0.75184	0.3815	M	0.82517	2.595	0.58432	D	0.999995	D	0.54047	0.964	P	0.46796	0.527	T	0.77892	-0.2418	10	0.72032	D	0.01	-3.7167	10.8251	0.46627	0.1525:0.0:0.8475:0.0	.	620	P11678	PERE_HUMAN	T	620	ENSP00000225371:A620T	ENSP00000225371:A620T	A	+	1	0	EPX	53635590	1.000000	0.71417	0.690000	0.30148	0.931000	0.56810	3.122000	0.50446	0.876000	0.35872	0.655000	0.94253	GCT		0.547	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443367.1	NM_000502	
SETBP1	26040	broad.mit.edu	37	18	42643234	42643234	+	Silent	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr18:42643234C>T	ENST00000282030.5	+	6	4658	c.4362C>T	c.(4360-4362)cgC>cgT	p.R1454R		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1454						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		AGAAGAGGCGCGGGCGTCCCA	0.552									Schinzel-Giedion syndrome																													uc010dni.3																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(4360-4362)cgC>cgT		Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.							37.0	34.0	35.0					18																	42643234		2203	4300	6503	SO:0001819	synonymous_variant	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42643234C>T	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.4362C>T	18.37:g.42643234C>T							p.R1454R	NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	5	4658	+			1454					A6H8W5|Q6P6C3|Q9UEF3	Silent	SNP	ENST00000282030.5	37	c.4362C>T	CCDS11923.2																																																																																				0.552	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110	
ST8SIA3	51046	broad.mit.edu	37	18	55024414	55024414	+	Silent	SNP	C	C	T	rs376754702		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr18:55024414C>T	ENST00000324000.3	+	3	2607	c.573C>T	c.(571-573)ttC>ttT	p.F191F		NM_015879.2	NP_056963.2	O43173	SIA8C_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3	191					cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycoprotein metabolic process (GO:0009100)|glycosphingolipid biosynthetic process (GO:0006688)|N-glycan processing (GO:0006491)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialic acid binding (GO:0033691)	p.F191F(1)		breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36				READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)		GTTGCAATTTCGCCCCTACGG	0.403																																						uc002lgn.3																			1	Substitution - coding silent(1)	p.F191F(2)	lung(1)	breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(16)|prostate(1)|skin(3)	36						c.(571-573)ttC>ttT		Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 3 (ST8SIA3), mRNA.		C		0,4406		0,0,2203	78.0	83.0	81.0		573	-7.1	0.8	18		81	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ST8SIA3	NM_015879.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		191/381	55024414	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51046				glycosphingolipid biosynthetic process|N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr18:55024414C>T	AF004668	CCDS32834.1	18q21.31	2013-03-01	2005-02-07	2005-02-07	ENSG00000177511	ENSG00000177511		"""Sialyltransferases"""	14269	protein-coding gene	gene with protein product	"""ST8Sia III"""	609478	"""sialyltransferase 8C (alpha2,3Galbeta1,4GlcNAcalpha 2,8-sialyltransferase)"""	SIAT8C			Standard	NM_015879		Approved		uc002lgn.3	O43173	OTTHUMG00000180101	ENST00000324000.3:c.573C>T	18.37:g.55024414C>T							p.F191F	NM_015879	NP_056963	O43173	SIA8C_HUMAN		READ - Rectum adenocarcinoma(59;0.19)|Colorectal(16;0.205)	2	930	+			191					A8K0F2|Q6B085|Q9NS41	Silent	SNP	ENST00000324000.3	37	c.573C>T	CCDS32834.1																																																																																				0.403	ST8SIA3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449765.1	NM_015879	
CNN2	1265	broad.mit.edu	37	19	1032680	1032680	+	Silent	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr19:1032680C>T	ENST00000263097.4	+	4	738	c.375C>T	c.(373-375)ctC>ctT	p.L125L	CNN2_ENST00000565096.2_Intron|CNN2_ENST00000348419.3_Silent_p.L125L|CNN2_ENST00000562958.2_Silent_p.L125L|CNN2_ENST00000606983.1_3'UTR	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	125	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actomyosin structure organization (GO:0031032)|cellular response to mechanical stimulus (GO:0071260)|cytoskeleton organization (GO:0007010)|hemopoiesis (GO:0030097)|negative regulation of cell migration (GO:0030336)|negative regulation of phagocytosis (GO:0050765)|positive regulation of gene expression (GO:0010628)|regulation of actin filament-based process (GO:0032970)|regulation of cell proliferation (GO:0042127)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|stress fiber (GO:0001725)	actin binding (GO:0003779)			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		tgtctcttctcgccctggcgg	0.587																																						uc002lqu.3																			0				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10						c.(373-375)ctC>ctT		Homo sapiens calponin 2 (CNN2), transcript variant 1, mRNA.							30.0	26.0	27.0					19																	1032680		2202	4298	6500	SO:0001819	synonymous_variant	1265				actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding	g.chr19:1032680C>T	D83735	CCDS12053.1, CCDS12054.1	19p13.3	2011-02-18			ENSG00000064666	ENSG00000064666			2156	protein-coding gene	gene with protein product		602373				8889829	Standard	NM_004368		Approved		uc002lqu.3	Q99439		ENST00000263097.4:c.375C>T	19.37:g.1032680C>T						CNN2_uc002lqt.1_Silent_p.L125L|CNN2_uc010drz.1_Intron|CNN2_uc002lqv.3_Silent_p.L125L|CNN2_uc010xgb.2_Intron|CNN2_uc010xgc.2_Silent_p.L125L	p.L125L	NM_004368	NP_004359	Q99439	CNN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3	738	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	125			CH.		A5D8U8|A6NFI4|D6W5X9|Q92578	Silent	SNP	ENST00000263097.4	37	c.375C>T	CCDS12053.1																																																																																				0.587	CNN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420293.3	NM_004368	
HMHA1	23526	broad.mit.edu	37	19	1080274	1080274	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr19:1080274G>A	ENST00000313093.2	+	14	1955	c.1724G>A	c.(1723-1725)cGg>cAg	p.R575Q	HMHA1_ENST00000590214.1_Missense_Mutation_p.R602Q|HMHA1_ENST00000536472.1_Missense_Mutation_p.R415Q|HMHA1_ENST00000590577.1_Missense_Mutation_p.R210Q|HMHA1_ENST00000543365.1_Missense_Mutation_p.R458Q|HMHA1_ENST00000586866.1_Missense_Mutation_p.R579Q|HMHA1_ENST00000539243.2_Missense_Mutation_p.R591Q	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	575					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGCGTGCCCGGAAGAGCAGC	0.642																																						uc002lqz.1																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16						c.(1723-1725)cGg>cAg		Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.							71.0	81.0	77.0					19																	1080274		2203	4300	6503	SO:0001583	missense	23526				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding	g.chr19:1080274G>A	D86976	CCDS32863.1, CCDS58637.1, CCDS74242.1, CCDS74243.1	19p13.3	2011-09-07				ENSG00000180448		"""Rho GTPase activating proteins"""	17102	protein-coding gene	gene with protein product		601155				9820596, 9039502	Standard	NM_012292		Approved	KIAA0223, HA-1, ARHGAP45	uc010xgd.2	Q92619		ENST00000313093.2:c.1724G>A	19.37:g.1080274G>A	ENSP00000316772:p.Arg575Gln					HMHA1_uc010xgd.1_Missense_Mutation_p.R591Q|HMHA1_uc010xge.1_Missense_Mutation_p.R415Q|HMHA1_uc002lra.1_Missense_Mutation_p.R415Q|HMHA1_uc002lrb.1_Missense_Mutation_p.R458Q|HMHA1_uc002lrc.1_Missense_Mutation_p.R210Q	p.R575Q	NM_012292	NP_036424	Q92619	HMHA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1955	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	575					B4DTS4|F6QP70|Q6P189|Q7LE26|Q86WS1|Q8HX84|Q9GJN9|Q9GJP0|Q9GJP1|Q9MY24	Missense_Mutation	SNP	ENST00000313093.2	37	c.1724G>A	CCDS32863.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.626716	0.87560	.	.	ENSG00000180448	ENST00000539243;ENST00000313093;ENST00000544746;ENST00000536472;ENST00000412039;ENST00000543365	T;T;T;T	0.23754	1.92;1.92;1.95;1.89	3.98	3.98	0.46160	.	0.071450	0.52532	U	0.000063	T	0.43612	0.1255	M	0.62016	1.91	0.38467	D	0.947364	D;D;D;D;D	0.89917	1.0;1.0;0.977;1.0;1.0	D;D;P;D;D	0.91635	0.999;0.999;0.556;0.998;0.998	T	0.37454	-0.9705	10	0.35671	T	0.21	-28.2759	9.9146	0.41425	0.1049:0.0:0.8951:0.0	.	415;591;210;458;575	F5H4A3;F6QP70;B3KVA9;F5H1R4;Q92619	.;.;.;.;HMHA1_HUMAN	Q	591;575;575;415;569;458	ENSP00000439601:R591Q;ENSP00000316772:R575Q;ENSP00000445109:R415Q;ENSP00000438979:R458Q	ENSP00000316772:R575Q	R	+	2	0	HMHA1	1031274	0.990000	0.36364	0.829000	0.32907	0.964000	0.63967	3.962000	0.56766	1.949000	0.56562	0.561000	0.74099	CGG		0.642	HMHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458026.1		
TLE2	7089	broad.mit.edu	37	19	3005947	3005947	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr19:3005947C>T	ENST00000262953.6	-	16	1782	c.1520G>A	c.(1519-1521)cGt>cAt	p.R507H	TLE2_ENST00000426948.2_Missense_Mutation_p.R521H|TLE2_ENST00000447365.2_Missense_Mutation_p.R174H|TLE2_ENST00000455444.2_Missense_Mutation_p.R385H|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000590536.1_Missense_Mutation_p.R508H|TLE2_ENST00000591529.1_Missense_Mutation_p.R521H|TLE2_ENST00000443826.3_Missense_Mutation_p.R385H	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2	507					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGCAGGAACGAATGTAGTT	0.632																																						uc010dth.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13						c.(1522-1524)cGt>cAt		Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.							33.0	39.0	37.0					19																	3005947		2169	4286	6455	SO:0001583	missense	7089				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity	g.chr19:3005947C>T	M99436	CCDS45911.1, CCDS45912.1, CCDS45913.1, CCDS74255.1	19p13.3	2014-03-07	2014-03-07					"""WD repeat domain containing"""	11838	protein-coding gene	gene with protein product	"""enhancer of split groucho 2"""	601041	"""transducin-like enhancer of split 2, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)"""			8808280	Standard	NM_003260		Approved	ESG2, GRG2, ESG, FLJ41188	uc002lww.3	Q04725		ENST00000262953.6:c.1520G>A	19.37:g.3005947C>T	ENSP00000262953:p.Arg507His					TLE2_uc010xhb.2_Missense_Mutation_p.R174H|TLE2_uc002lww.3_Missense_Mutation_p.R507H|TLE2_uc010xhc.2_Missense_Mutation_p.R385H|TLE2_uc010dti.3_Missense_Mutation_p.R521H	p.R508H	NM_003260	NP_003251	Q04725	TLE2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	15	1786	-			507					B4DE03|E9PEV7|F8WCH2|Q8WVY0|Q9Y6S0	Missense_Mutation	SNP	ENST00000262953.6	37	c.1523G>A	CCDS45911.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583699	0.86748	.	.	ENSG00000065717	ENST00000262953;ENST00000455444;ENST00000360654;ENST00000450017;ENST00000447365;ENST00000443826;ENST00000426948	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	3.58	2.53	0.30540	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.056202	0.64402	N	0.000001	T	0.31765	0.0807	M	0.78637	2.42	0.58432	D	0.999991	B;D;D;B;B	0.76494	0.088;0.966;0.999;0.05;0.05	B;B;P;B;B	0.62885	0.009;0.303;0.908;0.009;0.009	T	0.07385	-1.0775	10	0.87932	D	0	-12.2791	9.7352	0.40384	0.0:0.8936:0.0:0.1064	.	385;174;521;385;507	E9PEV7;B4DE62;F8WCH2;B4DE03;Q04725	.;.;.;.;TLE2_HUMAN	H	507;385;56;501;174;385;521	ENSP00000262953:R507H;ENSP00000413107:R385H;ENSP00000406523:R174H;ENSP00000392427:R385H;ENSP00000392869:R521H	ENSP00000262953:R507H	R	-	2	0	TLE2	2956947	1.000000	0.71417	0.853000	0.33588	0.918000	0.54935	7.567000	0.82357	0.828000	0.34709	0.462000	0.41574	CGT		0.632	TLE2-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000452194.2	NM_003260	
ZNF788	388507	broad.mit.edu	37	19	12222273	12222273	+	5'UTR	SNP	C	C	T	rs553031636	byFrequency	TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr19:12222273C>T	ENST00000339302.4	+	0	548				ZNF20_ENST00000600335.1_Intron|ZNF788_ENST00000596883.1_3'UTR|ZNF788_ENST00000430298.2_3'UTR|ZNF788_ENST00000397759.3_5'Flank			Q6ZQV5	ZN788_HUMAN	zinc finger family member 788						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						TATGGACAGACGCCATATAAA	0.428													.|||	2	0.000399361	0.0	0.0	5008	,	,		19500	0.0		0.0	False		,,,				2504	0.002				Melanoma(116;440 1644 18510 25456 49479)	uc002mtd.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2								Homo sapiens zinc finger family member 788 (ZNF788), non-coding RNA.																																				SO:0001623	5_prime_UTR_variant	388507							g.chr19:12222273C>T	AI566055		19p13.2	2013-01-08	2006-08-16		ENSG00000214189	ENSG00000214189		"""Zinc fingers, C2H2-type"""	33112	protein-coding gene	gene with protein product							Standard	NR_027049		Approved	FLJ46419	uc002mtd.3	Q6ZQV5	OTTHUMG00000156416	ENST00000339302.4:c.-90C>T	19.37:g.12222273C>T														2		+								Q6ZRE4	Translation_Start_Site	SNP	ENST00000339302.4	37																																																																																						0.428	ZNF788-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		XM_930581	
EMR3	84658	broad.mit.edu	37	19	14758015	14758015	+	Missense_Mutation	SNP	G	G	A	rs192735238		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr19:14758015G>A	ENST00000253673.5	-	8	960	c.860C>T	c.(859-861)aCg>aTg	p.T287M	EMR3_ENST00000599900.1_Missense_Mutation_p.T72M|EMR3_ENST00000344373.4_Missense_Mutation_p.T235M|EMR3_ENST00000443157.2_Missense_Mutation_p.T161M	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	287					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GAAAGTCAGCGTCACAGACTT	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18691	0.0		0.0	False		,,,				2504	0.0					uc002mzi.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						c.(859-861)aCg>aTg		Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.							260.0	218.0	232.0					19																	14758015		2203	4300	6503	SO:0001583	missense	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14758015G>A	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.860C>T	19.37:g.14758015G>A	ENSP00000253673:p.Thr287Met					EMR3_uc010dzp.3_Missense_Mutation_p.T235M|EMR3_uc010xnv.2_Missense_Mutation_p.T161M	p.T287M	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN			7	1008	-			287						Missense_Mutation	SNP	ENST00000253673.5	37	c.860C>T	CCDS12315.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	10.85	1.468209	0.26335	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.59224	0.87;0.28;0.96	3.94	-7.88	0.01178	.	.	.	.	.	T	0.51890	0.1701	L	0.40543	1.245	0.09310	N	1	D;D;P	0.71674	0.986;0.998;0.642	P;D;B	0.64321	0.908;0.924;0.155	T	0.46555	-0.9183	9	0.33141	T	0.24	.	1.2817	0.02042	0.2454:0.118:0.4011:0.2355	.	161;235;287	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	M	161;287;235	ENSP00000396208:T161M;ENSP00000253673:T287M;ENSP00000340758:T235M	ENSP00000253673:T287M	T	-	2	0	EMR3	14619015	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.334000	0.07883	-1.785000	0.01271	-1.948000	0.00487	ACG		0.483	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571	
ZNF676	163223	broad.mit.edu	37	19	22364158	22364158	+	Missense_Mutation	SNP	C	C	T	rs376158454		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr19:22364158C>T	ENST00000397121.2	-	3	678	c.361G>A	c.(361-363)Gtc>Atc	p.V121I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	121					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTATGAAAGACGTTTGCATAT	0.333																																						uc002nqs.1																			0		p.V121V(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67						c.(361-363)Gtc>Atc		Homo sapiens zinc finger protein 676 (ZNF676), mRNA.		C	ILE/VAL	0,3986		0,0,1993	142.0	133.0	136.0		361	-1.5	0.0	19		136	1,8389		0,1,4194	no	missense	ZNF676	NM_001001411.2	29	0,1,6187	TT,TC,CC		0.0119,0.0,0.0081	benign	121/589	22364158	1,12375	1993	4195	6188	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22364158C>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.361G>A	19.37:g.22364158C>T	ENSP00000380310:p.Val121Ile						p.V121I	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			2	679	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	121					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.361G>A	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	3.058	-0.193817	0.06259	0.0	1.19E-4	ENSG00000196109	ENST00000397121	T	0.28666	1.6	0.742	-1.48	0.08745	.	.	.	.	.	T	0.25419	0.0618	M	0.62016	1.91	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.24584	-1.0156	9	0.36615	T	0.2	.	4.7005	0.12825	0.0:0.4199:0.4044:0.1757	.	121	Q8N7Q3	ZN676_HUMAN	I	121	ENSP00000380310:V121I	ENSP00000380310:V121I	V	-	1	0	ZNF676	22155998	0.016000	0.18221	0.002000	0.10522	0.163000	0.22366	-0.033000	0.12246	-0.839000	0.04212	0.186000	0.17326	GTC		0.333	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411	
KIRREL2	84063	broad.mit.edu	37	19	36351505	36351505	+	Silent	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr19:36351505C>T	ENST00000360202.5	+	7	1062	c.864C>T	c.(862-864)ccC>ccT	p.P288P	KIRREL2_ENST00000592409.1_Silent_p.P288P|KIRREL2_ENST00000347900.6_Silent_p.P238P|KIRREL2_ENST00000262625.7_Silent_p.P288P|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	288	Ig-like C2-type 3.				cell adhesion (GO:0007155)|negative regulation of protein phosphorylation (GO:0001933)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGACTGAGCCCGTGTCCTGCG	0.662																																						uc002ocb.4																			0				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48						c.(862-864)ccC>ccT		Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.							64.0	69.0	67.0					19																	36351505		2203	4300	6503	SO:0001819	synonymous_variant	84063				cell adhesion	integral to membrane|plasma membrane		g.chr19:36351505C>T	AL136654	CCDS12479.1, CCDS12480.1, CCDS12481.1	19q13.13	2013-01-29				ENSG00000126259		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18816	protein-coding gene	gene with protein product		607762				12837264, 12504092	Standard	NM_199180		Approved	NLG1, NEPH3, FILTRIN, DKFZp564A1164, MGC15718	uc002ocb.4	Q6UWL6		ENST00000360202.5:c.864C>T	19.37:g.36351505C>T						KIRREL2_uc002obz.4_Silent_p.P288P|KIRREL2_uc002oca.4_Silent_p.P238P|KIRREL2_uc002ocd.4_Silent_p.P285P	p.P288P	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		6	1076	+	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		288			Ig-like C2-type 3.		C9JHF1|C9JJ76|F1T0I2|Q6P1R1|Q7Z5P1|Q7Z5P2|Q96IQ8|Q9H0T1	Silent	SNP	ENST00000360202.5	37	c.864C>T	CCDS12481.1																																																																																				0.662	KIRREL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452561.1	NM_032123	
ZNF780B	163131	broad.mit.edu	37	19	40541725	40541725	+	Missense_Mutation	SNP	C	C	G			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr19:40541725C>G	ENST00000434248.1	-	5	1106	c.1041G>C	c.(1039-1041)aaG>aaC	p.K347N	ZNF780B_ENST00000221355.6_Missense_Mutation_p.K199N	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GTCGAACAAGCTTTGTCAGAA	0.423																																						uc002omu.3																			0				endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(1039-1041)aaG>aaC		Homo sapiens zinc finger protein 780B (ZNF780B), mRNA.							65.0	67.0	66.0					19																	40541725		2203	4300	6503	SO:0001583	missense	163131				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:40541725C>G	AK127063	CCDS46077.1	19q13.2	2013-01-08	2006-08-15	2006-08-15	ENSG00000128000	ENSG00000128000		"""Zinc fingers, C2H2-type"", ""-"""	33109	protein-coding gene	gene with protein product			"""zinc finger protein 779"""	ZNF779			Standard	NM_001005851		Approved		uc002omu.3	Q9Y6R6	OTTHUMG00000155118	ENST00000434248.1:c.1041G>C	19.37:g.40541725C>G	ENSP00000391641:p.Lys347Asn					ZNF780B_uc002omv.3_Missense_Mutation_p.K199N	p.K347N	NM_001005851	NP_001005851	Q9Y6R6	Z780B_HUMAN			4	1106	-	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)		347					B9EH00	Missense_Mutation	SNP	ENST00000434248.1	37	c.1041G>C	CCDS46077.1	.	.	.	.	.	.	.	.	.	.	C	1.346	-0.592751	0.03771	.	.	ENSG00000128000	ENST00000434248;ENST00000221355	T;T	0.07444	3.19;3.19	2.19	-4.38	0.03622	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02727	0.0082	N	0.01431	-0.87	0.09310	N	1	P	0.51653	0.947	P	0.49140	0.601	T	0.14980	-1.0453	9	0.10377	T	0.69	.	2.4534	0.04524	0.1651:0.2064:0.4806:0.1479	.	347	Q9Y6R6	Z780B_HUMAN	N	347;199	ENSP00000391641:K347N;ENSP00000221355:K199N	ENSP00000221355:K199N	K	-	3	2	ZNF780B	45233565	0.000000	0.05858	0.000000	0.03702	0.047000	0.14425	-4.775000	0.00187	-0.969000	0.03573	0.297000	0.19635	AAG		0.423	ZNF780B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338466.1	NM_001005851	
NLRP7	199713	broad.mit.edu	37	19	55449589	55449589	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr19:55449589G>A	ENST00000590030.1	-	4	1992	c.1952C>T	c.(1951-1953)cCg>cTg	p.P651L	NLRP7_ENST00000446217.1_Missense_Mutation_p.P679L|NLRP7_ENST00000448121.2_Intron|NLRP7_ENST00000328092.5_Intron|NLRP7_ENST00000588756.1_Missense_Mutation_p.P651L|NLRP7_ENST00000340844.2_Missense_Mutation_p.P651L|NLRP7_ENST00000592784.1_Missense_Mutation_p.P651L			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	651			P -> S (in HYDM1). {ECO:0000269|PubMed:19246479}.				ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		AGCCCAGTTCGGAATGGTTAG	0.493																																						uc002qih.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73						c.(1951-1953)cCg>cTg		Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.							87.0	82.0	84.0					19																	55449589		2203	4300	6503	SO:0001583	missense	199713						ATP binding	g.chr19:55449589G>A	AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1952C>T	19.37:g.55449589G>A	ENSP00000465520:p.Pro651Leu					NLRP7_uc010esk.3_Missense_Mutation_p.P651L|NLRP7_uc002qig.4_Intron|NLRP7_uc002qii.4_Missense_Mutation_p.P651L|NLRP7_uc010esl.3_Missense_Mutation_p.P679L	p.P651L	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN		GBM - Glioblastoma multiforme(193;0.0325)	4	2028	-			651		P -> S (in HYDM).			E9PE16|Q32MH8|Q7RTR1	Missense_Mutation	SNP	ENST00000590030.1	37	c.1952C>T	CCDS33109.1	.	.	.	.	.	.	.	.	.	.	G	6.524	0.464883	0.12402	.	.	ENSG00000167634	ENST00000328092;ENST00000340844;ENST00000446217;ENST00000399724	T;T	0.53423	0.62;0.62	1.73	0.68	0.17980	.	.	.	.	.	T	0.24122	0.0584	N	0.22421	0.69	0.09310	N	1	P;P;P	0.36974	0.576;0.576;0.576	B;B;B	0.23419	0.046;0.046;0.046	T	0.11518	-1.0584	9	0.49607	T	0.09	.	3.9141	0.09216	0.3976:0.0:0.6024:0.0	.	679;651;651	E7EPM2;Q32MH9;Q8WX94	.;.;NALP7_HUMAN	L	651;651;679;418	ENSP00000339491:P651L;ENSP00000414273:P679L	ENSP00000329568:P651L	P	-	2	0	NLRP7	60141401	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.258000	0.08733	0.299000	0.22661	0.561000	0.74099	CCG		0.493	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	
B3GNT2	10678	broad.mit.edu	37	2	62450208	62450208	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr2:62450208A>G	ENST00000301998.4	+	2	1105	c.853A>G	c.(853-855)Aag>Gag	p.K285E	B3GNT2_ENST00000405767.1_Missense_Mutation_p.K285E	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	285					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			TCATCGGGATAAGAAGCTGAA	0.502																																						uc021vii.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18						c.(853-855)Aag>Gag		Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2 (B3GNT2), mRNA.							91.0	91.0	91.0					2																	62450208		2203	4300	6503	SO:0001583	missense	10678					Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr2:62450208A>G	AB049584	CCDS1870.1	2p15	2013-02-19	2006-04-12	2006-04-12	ENSG00000170340	ENSG00000170340		"""Beta 3-glycosyltransferases"""	15629	protein-coding gene	gene with protein product		605581	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1"""	B3GNT1		9892646, 11042166	Standard	NM_006577		Approved	B3GNT-2, BETA3GNT, B3GN-T2, B3GN-T1	uc002sbs.3	Q9NY97	OTTHUMG00000129444	ENST00000301998.4:c.853A>G	2.37:g.62450208A>G	ENSP00000305595:p.Lys285Glu					B3GNT2_uc002sbs.3_Missense_Mutation_p.K285E	p.K285E	NM_006577	NP_006568	Q9NY97	B3GN2_HUMAN	LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)		0	853	+	Lung NSC(7;0.031)|all_lung(7;0.0634)		285					Q54AC1|Q9NQQ9|Q9NQR0|Q9NUT9	Missense_Mutation	SNP	ENST00000301998.4	37	c.853A>G	CCDS1870.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.454048	0.84209	.	.	ENSG00000170340	ENST00000301998;ENST00000405767	T;T	0.49139	0.79;0.79	5.9	5.9	0.94986	.	0.140018	0.64402	D	0.000005	T	0.67163	0.2864	M	0.80847	2.515	0.80722	D	1	D	0.59357	0.985	P	0.61003	0.882	T	0.66496	-0.5909	10	0.30078	T	0.28	.	16.3322	0.83039	1.0:0.0:0.0:0.0	.	285	Q9NY97	B3GN2_HUMAN	E	285	ENSP00000305595:K285E;ENSP00000384692:K285E	ENSP00000305595:K285E	K	+	1	0	B3GNT2	62303712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.339000	0.96797	2.251000	0.74343	0.528000	0.53228	AAG		0.502	B3GNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251606.2	NM_006577	
PSD4	23550	broad.mit.edu	37	2	113950118	113950118	+	Missense_Mutation	SNP	G	G	A	rs140435814	byFrequency	TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr2:113950118G>A	ENST00000245796.6	+	6	1985	c.1790G>A	c.(1789-1791)cGc>cAc	p.R597H	PSD4_ENST00000441564.3_Missense_Mutation_p.R569H	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	597	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGCCTCTATCGCCTGGAGGGC	0.597													g|||	5	0.000998403	0.0038	0.0	5008	,	,		20179	0.0		0.0	False		,,,				2504	0.0					uc002tjc.3																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1789-1791)cGc>cAc		Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.			HIS/ARG	17,4389	25.3+/-52.1	1,15,2187	97.0	97.0	97.0		1790	-2.9	0.8	2	dbSNP_134	97	0,8600		0,0,4300	yes	missense	PSD4	NM_012455.2	29	1,15,6487	AA,AG,GG		0.0,0.3858,0.1307	benign	597/1057	113950118	17,12989	2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113950118G>A	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.1790G>A	2.37:g.113950118G>A	ENSP00000245796:p.Arg597His					PSD4_uc002tjd.3_Missense_Mutation_p.R218H|PSD4_uc002tje.3_Missense_Mutation_p.R568H|PSD4_uc002tjf.3_Missense_Mutation_p.R218H	p.R597H	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			5	1973	+			597			SEC7.		A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.1790G>A	CCDS33276.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	g	5.103	0.204558	0.09704	0.003858	0.0	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.30981	1.51;1.51	5.55	-2.87	0.05700	SEC7-like (4);	0.685420	0.15168	N	0.276809	T	0.10380	0.0254	N	0.04387	-0.21	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.001;0.001	T	0.44375	-0.9332	10	0.02654	T	1	.	11.4513	0.50154	0.5497:0.0:0.4503:0.0	.	255;569;597	Q59HG0;Q8NDX1-2;Q8NDX1	.;.;PSD4_HUMAN	H	597;569	ENSP00000245796:R597H;ENSP00000413997:R569H	ENSP00000245796:R597H	R	+	2	0	PSD4	113666589	0.030000	0.19436	0.776000	0.31678	0.911000	0.54048	0.236000	0.17967	-0.432000	0.07297	-0.482000	0.04802	CGC		0.597	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455	
TTN	7273	broad.mit.edu	37	2	179474032	179474032	+	Silent	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr2:179474032G>A	ENST00000591111.1	-	223	47306	c.47082C>T	c.(47080-47082)cgC>cgT	p.R15694R	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.R8462R|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Silent_p.R8395R|TTN_ENST00000342992.6_Silent_p.R14767R|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Silent_p.R8270R|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Silent_p.R17335R|TTN-AS1_ENST00000592630.1_RNA			Q8WZ42	TITIN_HUMAN	titin	15694	Ig-like 98.				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)			AATCTCGGACGCGTAGCTGAG	0.458																																						uc021vsy.1																			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.(44299-44301)cgC>cgT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							116.0	112.0	113.0					2																	179474032		1933	4130	6063	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179474032G>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.47082C>T	2.37:g.179474032G>A						MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.R8462R|TTN_uc021vta.1_Silent_p.R8395R|TTN_uc021vtb.1_Silent_p.R8270R	p.R14767R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		221	44526	-			15694			Fibronectin type-III 6.		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.44301C>T																																																																																					0.458	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ASXL1	171023	broad.mit.edu	37	20	31022345	31022345	+	Silent	SNP	C	C	T	rs199829982		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr20:31022345C>T	ENST00000375687.4	+	13	2254	c.1830C>T	c.(1828-1830)ggC>ggT	p.G610G	ASXL1_ENST00000306058.5_Silent_p.G605G	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	610	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.Q592fs*5(1)|p.G610G(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GTTGGACTGGCGCCAGGACCC	0.632			"""F, N, Mis"""		"""MDS, CMML"""																																	uc021wbw.1				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		2	Deletion - Frameshift(1)|Substitution - coding silent(1)	p.G610G(2)|p.Q592fs*5(1)|p.(574_1542)fs*?(1)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(1828-1830)ggC>ggT		Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.		C		1,4405		0,1,2202	29.0	31.0	30.0		1830	-10.8	0.5	20		30	1,8599		0,1,4299	no	coding-synonymous	ASXL1	NM_015338.5		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		610/1542	31022345	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022345C>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1830C>T	20.37:g.31022345C>T						ASXL1_uc002wxs.3_Silent_p.G609G|ASXL1_uc010geb.3_Silent_p.G501G	p.G610G	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN			12	2262	+			610					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.1830C>T	CCDS13201.1																																																																																				0.632	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338	
KRTAP10-10	353333	broad.mit.edu	37	21	46057496	46057496	+	Silent	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr21:46057496G>A	ENST00000380095.1	+	1	224	c.162G>A	c.(160-162)caG>caA	p.Q54Q	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	54	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CCTGCTGCCAGACGGCCTGTG	0.657																																						uc002zfq.3																			0				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						c.(160-162)caG>caA		Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA.							56.0	62.0	60.0					21																	46057496		2203	4300	6503	SO:0001819	synonymous_variant	353333					keratin filament		g.chr21:46057496G>A	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.162G>A	21.37:g.46057496G>A						TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	p.Q54Q	NM_181688	NP_859016	P60014	KR10A_HUMAN			0	224	+			54			15 X 5 AA repeats of C-C-X(3).			Silent	SNP	ENST00000380095.1	37	c.162G>A	CCDS33585.1																																																																																				0.657	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688	
COL18A1	80781	broad.mit.edu	37	21	46911174	46911174	+	Silent	SNP	C	C	T	rs377652187		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr21:46911174C>T	ENST00000359759.4	+	21	3369	c.3348C>T	c.(3346-3348)ggC>ggT	p.G1116G	COL18A1_ENST00000400337.2_Silent_p.G701G|COL18A1_ENST00000355480.5_Silent_p.G881G			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1116	Triple-helical region 4 (COL4).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGCAGCCGGGCCTCCCTGGCC	0.682																																						uc002zhi.3																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(2641-2643)ggC>ggT		Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.		C	,	0,3866		0,0,1933	21.0	28.0	26.0		2643,2103	-3.6	0.1	21		26	1,8199		0,1,4099	no	coding-synonymous,coding-synonymous	COL18A1	NM_030582.3,NM_130445.2	,	0,1,6032	TT,TC,CC		0.0122,0.0,0.0083	,	881/1520,701/1340	46911174	1,12065	1933	4100	6033	SO:0001819	synonymous_variant	80781				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding	g.chr21:46911174C>T		CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.3348C>T	21.37:g.46911174C>T						COL18A1_uc002zhg.3_Silent_p.G701G	p.G881G	NM_030582	NP_085059	P39060	COIA1_HUMAN		Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)	20	2664	+			1116			Nonhelical region 3 (NC3).		A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Silent	SNP	ENST00000359759.4	37	c.2643C>T																																																																																					0.682	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000206827.1		
COL6A2	1292	broad.mit.edu	37	21	47538549	47538549	+	Missense_Mutation	SNP	C	C	T	rs142880107		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr21:47538549C>T	ENST00000300527.4	+	13	1242	c.1138C>T	c.(1138-1140)Cgc>Tgc	p.R380C	COL6A2_ENST00000357838.4_Missense_Mutation_p.R380C|COL6A2_ENST00000397763.1_Missense_Mutation_p.R380C|COL6A2_ENST00000310645.5_Missense_Mutation_p.R380C|COL6A2_ENST00000409416.1_Missense_Mutation_p.R380C	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	380	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCGCCCAGGACGCAGAGGGCC	0.682																																						uc002zia.1																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.(1138-1140)Cgc>Tgc		Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.		C	CYS/ARG,CYS/ARG,CYS/ARG	1,4397	2.1+/-5.4	0,1,2198	27.0	30.0	29.0		1138,1138,1138	4.7	1.0	21	dbSNP_134	29	0,8590		0,0,4295	no	missense,missense,missense	COL6A2	NM_001849.3,NM_058174.2,NM_058175.2	180,180,180	0,1,6493	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	380/1020,380/919,380/829	47538549	1,12987	2199	4295	6494	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47538549C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1138C>T	21.37:g.47538549C>T	ENSP00000300527:p.Arg380Cys					COL6A2_uc002zhz.1_Missense_Mutation_p.R380C|COL6A2_uc002zhy.1_Missense_Mutation_p.R380C	p.R380C	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	12	1220	+	Breast(49;0.245)		380			Triple-helical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.1138C>T	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040552	0.55003	2.27E-4	0.0	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	D;D;D;D;D	0.93426	-3.2;-3.2;-3.22;-3.22;-3.2	4.69	4.69	0.59074	.	0.053823	0.64402	D	0.000001	D	0.95987	0.8693	M	0.67517	2.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.987;0.978	D	0.96089	0.9060	10	0.52906	T	0.07	-16.3159	16.6052	0.84826	0.0:1.0:0.0:0.0	.	380;380;380	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	C	380	ENSP00000300527:R380C;ENSP00000350497:R380C;ENSP00000312529:R380C;ENSP00000387115:R380C;ENSP00000380870:R380C	ENSP00000300527:R380C	R	+	1	0	COL6A2	46362977	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	4.537000	0.60643	2.151000	0.67156	0.591000	0.81541	CGC		0.682	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1		
ZNF445	353274	broad.mit.edu	37	3	44488333	44488333	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr3:44488333G>C	ENST00000396077.2	-	8	3177	c.2830C>G	c.(2830-2832)Cta>Gta	p.L944V	ZNF445_ENST00000425708.2_Missense_Mutation_p.L944V	NM_181489.5	NP_852466.1	P59923	ZN445_HUMAN	zinc finger protein 445	944					transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		CTTGGTTTTAGCTTCTGTAAT	0.522																																						uc003cnf.2																			0				breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31						c.(2830-2832)Cta>Gta		Homo sapiens zinc finger protein 445 (ZNF445), mRNA.							97.0	94.0	95.0					3																	44488333		2203	4300	6503	SO:0001583	missense	353274				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:44488333G>C	AY262260	CCDS2713.1	3p21.32	2013-01-09	2003-10-07		ENSG00000185219	ENSG00000185219		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	21018	protein-coding gene	gene with protein product			"""zinc finger protein 168"""	ZNF168		7814019	Standard	NM_181489		Approved	ZKSCAN15, ZSCAN47	uc003cnf.2	P59923	OTTHUMG00000133042	ENST00000396077.2:c.2830C>G	3.37:g.44488333G>C	ENSP00000379387:p.Leu944Val					ZNF445_uc011azv.1_Missense_Mutation_p.L932V|ZNF445_uc011azw.1_Missense_Mutation_p.L944V	p.L944V	NM_181489	NP_852466	P59923	ZN445_HUMAN		KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)	7	3178	-			944					Q3MJD1	Missense_Mutation	SNP	ENST00000396077.2	37	c.2830C>G	CCDS2713.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.424372	0.43020	.	.	ENSG00000185219	ENST00000425708;ENST00000396077	T;T	0.05786	3.39;3.39	4.49	-3.27	0.05048	.	1.235570	0.06148	N	0.673609	T	0.02727	0.0082	N	0.20685	0.6	0.09310	N	1	B;P	0.39480	0.421;0.675	B;B	0.24541	0.054;0.054	T	0.37056	-0.9722	10	0.72032	D	0.01	.	1.2262	0.01934	0.3346:0.1649:0.3404:0.1601	.	932;944	B7ZKX2;P59923	.;ZN445_HUMAN	V	944	ENSP00000413073:L944V;ENSP00000379387:L944V	ENSP00000379387:L944V	L	-	1	2	ZNF445	44463337	.	.	0.000000	0.03702	0.257000	0.26127	.	.	-0.462000	0.06984	-0.440000	0.05779	CTA		0.522	ZNF445-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256647.2	NM_181489	
DNAH1	25981	broad.mit.edu	37	3	52417479	52417479	+	Silent	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr3:52417479C>T	ENST00000420323.2	+	51	8280	c.8019C>T	c.(8017-8019)gaC>gaT	p.D2673D		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2673	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATACTGCGGACGAGCAGGACC	0.557																																						uc011bef.2																			0				cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62						c.(8017-8019)gaC>gaT		Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.							79.0	79.0	79.0					3																	52417479		2029	4185	6214	SO:0001819	synonymous_variant	25981				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr3:52417479C>T	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.8019C>T	3.37:g.52417479C>T						DNAH1_uc003ddv.3_5'Flank	p.D2673D	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	50	8280	+			2673			AAA 4 (By similarity).		B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	c.8019C>T	CCDS46842.1																																																																																				0.557	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
OR5K4	403278	broad.mit.edu	37	3	98072705	98072705	+	Missense_Mutation	SNP	G	G	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr3:98072705G>T	ENST00000354924.2	+	1	8	c.8G>T	c.(7-9)aGg>aTg	p.R3M	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	3						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GGAATGGCTAGGGAAAATCAC	0.393																																						uc011bgv.2																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						c.(7-9)aGg>aTg		Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.							61.0	62.0	61.0					3																	98072705		2203	4300	6503	SO:0001583	missense	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98072705G>T		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.8G>T	3.37:g.98072705G>T	ENSP00000347003:p.Arg3Met						p.R3M	NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN			0	8	+			3						Missense_Mutation	SNP	ENST00000354924.2	37	c.8G>T	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	A	7.808	0.715128	0.15306	.	.	ENSG00000196098	ENST00000354924	T	0.09911	2.93	4.67	2.23	0.28157	.	0.495242	0.14861	U	0.294107	T	0.03477	0.0100	N	0.02960	-0.455	0.09310	N	1	B	0.19331	0.035	B	0.12156	0.007	T	0.39820	-0.9595	10	0.37606	T	0.19	-0.628	0.8464	0.01162	0.4963:0.1648:0.1798:0.159	.	3	A6NMS3	OR5K4_HUMAN	M	3	ENSP00000347003:R3M	ENSP00000347003:R3M	R	+	2	0	OR5K4	99555395	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-0.793000	0.04589	0.054000	0.16065	-0.308000	0.09152	AGG		0.393	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1		
LRRC31	79782	broad.mit.edu	37	3	169579511	169579511	+	Missense_Mutation	SNP	T	T	C			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr3:169579511T>C	ENST00000316428.5	-	2	323	c.266A>G	c.(265-267)aAg>aGg	p.K89R	LRRC31_ENST00000264676.5_Missense_Mutation_p.K89R|LRRC31_ENST00000523069.1_Missense_Mutation_p.K89R|LRRC31_ENST00000397805.2_5'UTR	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	89										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			ATCTAGACACTTGTTGACAGC	0.428																																						uc003fgc.1																			0				cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(265-267)aAg>aGg		Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.							239.0	231.0	233.0					3																	169579511		1906	4119	6025	SO:0001583	missense	79782							g.chr3:169579511T>C	AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.266A>G	3.37:g.169579511T>C	ENSP00000325978:p.Lys89Arg					LRRC31_uc010hwp.1_Missense_Mutation_p.K89R	p.K89R	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)		1	331	-	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		89					B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	ENST00000316428.5	37	c.266A>G	CCDS43167.1	.	.	.	.	.	.	.	.	.	.	T	12.42	1.932826	0.34096	.	.	ENSG00000114248	ENST00000316428;ENST00000264676;ENST00000523069	T;T;T	0.53206	0.63;0.65;0.63	5.29	-3.99	0.04069	.	0.930944	0.09114	N	0.846699	T	0.28400	0.0702	N	0.20881	0.62	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.12156	0.007;0.001	T	0.31752	-0.9932	10	0.15499	T	0.54	-6.3413	10.6365	0.45569	0.0:0.0961:0.6384:0.2655	.	89;89	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	R	89	ENSP00000325978:K89R;ENSP00000264676:K89R;ENSP00000429145:K89R	ENSP00000264676:K89R	K	-	2	0	LRRC31	171062205	0.002000	0.14202	0.247000	0.24249	0.072000	0.16883	-0.373000	0.07494	-0.545000	0.06224	-0.460000	0.05396	AAG		0.428	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378699.1	NM_024727	
TLL1	7092	broad.mit.edu	37	4	166963247	166963247	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr4:166963247C>T	ENST00000061240.2	+	11	1977	c.1330C>T	c.(1330-1332)Cgt>Tgt	p.R444C	TLL1_ENST00000507499.1_Missense_Mutation_p.R444C	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	444	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R444C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GATTGAGTTTCGTAGCAGCAG	0.368																																						uc003irh.2																			1	Substitution - Missense(1)	p.R444C(2)	skin(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1330-1332)Cgt>Tgt		Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.							143.0	145.0	144.0					4																	166963247		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166963247C>T	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1330C>T	4.37:g.166963247C>T	ENSP00000061240:p.Arg444Cys					TLL1_uc011cjn.2_Missense_Mutation_p.R444C|TLL1_uc011cjo.2_Missense_Mutation_p.R268C	p.R444C	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	10	1977	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	444			CUB 1.		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.1330C>T	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	C	33	5.235751	0.95240	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	T;T	0.36340	1.26;1.26	5.67	5.67	0.87782	CUB (5);	0.000000	0.85682	U	0.000000	T	0.72606	0.3481	H	0.94808	3.585	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.984;1.0	T	0.79799	-0.1651	10	0.62326	D	0.03	.	19.774	0.96385	0.0:1.0:0.0:0.0	.	444;444	E9PD25;O43897	.;TLL1_HUMAN	C	444	ENSP00000061240:R444C;ENSP00000426082:R444C	ENSP00000061240:R444C	R	+	1	0	TLL1	167182697	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.935000	0.70145	2.679000	0.91253	0.591000	0.81541	CGT		0.368	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		
SLC9A3	6550	broad.mit.edu	37	5	492029	492029	+	Silent	SNP	G	G	A	rs144657077		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr5:492029G>A	ENST00000264938.3	-	2	378	c.369C>T	c.(367-369)atC>atT	p.I123I	SLC9A3_ENST00000514375.1_Silent_p.I123I	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	123					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border (GO:0005903)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|sodium:proton antiporter activity (GO:0015385)			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGTCCAGCACGATGGGGGGCA	0.652																																						uc003jbe.2																			0		p.I123fs*79(2)		NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37						c.(367-369)atC>atT		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.		G		1,4395	2.1+/-5.4	0,1,2197	64.0	45.0	51.0		369	-1.8	1.0	5	dbSNP_134	51	2,8592	2.2+/-6.3	0,2,4295	no	coding-synonymous	SLC9A3	NM_004174.2		0,3,6492	AA,AG,GG		0.0233,0.0227,0.0231		123/835	492029	3,12987	2198	4297	6495	SO:0001819	synonymous_variant	6550					cell surface|integral to membrane	sodium:hydrogen antiporter activity	g.chr5:492029G>A		CCDS3855.1, CCDS64116.1	5p15.3	2013-05-22	2012-03-22		ENSG00000066230	ENSG00000066230		"""Solute carriers"""	11073	protein-coding gene	gene with protein product		182307	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3"""	NHE3		8096830	Standard	NM_004174		Approved		uc003jbe.2	P48764	OTTHUMG00000090315	ENST00000264938.3:c.369C>T	5.37:g.492029G>A						SLC9A3_uc011clx.1_Silent_p.I123I	p.I123I	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)		1	481	-			123					B7ZKR2|E9PF67|Q3MIW3	Silent	SNP	ENST00000264938.3	37	c.369C>T	CCDS3855.1																																																																																				0.652	SLC9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206677.2	NM_004174	
CMBL	134147	broad.mit.edu	37	5	10290849	10290849	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr5:10290849G>A	ENST00000296658.3	-	2	446	c.26C>T	c.(25-27)cCg>cTg	p.P9L	CMBL_ENST00000510532.1_5'UTR|Y_RNA_ENST00000516532.1_RNA	NM_138809.3	NP_620164.1	Q96DG6	CMBL_HUMAN	carboxymethylenebutenolidase homolog (Pseudomonas)	9						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						AATGTCACACGGACAAGGATA	0.468																																						uc003jes.3																			0				endometrium(1)|large_intestine(1)|lung(9)|skin(1)|stomach(1)	13						c.(25-27)cCg>cTg		Homo sapiens carboxymethylenebutenolidase homolog (Pseudomonas) (CMBL), mRNA.							118.0	112.0	114.0					5																	10290849		2203	4300	6503	SO:0001583	missense	134147					cytosol	hydrolase activity|protein binding	g.chr5:10290849G>A		CCDS3878.1	5p15.2	2010-06-25	2006-09-12		ENSG00000164237	ENSG00000164237	3.1.-.-		25090	protein-coding gene	gene with protein product		613379	"""carboxymethylenebutenolidase-like (Pseudomonas)"""			3804974, 20177059	Standard	NM_138809		Approved	FLJ23617	uc003jes.3	Q96DG6	OTTHUMG00000131043	ENST00000296658.3:c.26C>T	5.37:g.10290849G>A	ENSP00000296658:p.Pro9Leu						p.P9L	NM_138809	NP_620164	Q96DG6	CMBL_HUMAN			1	477	-			9					D3DTC7|Q8TED6	Missense_Mutation	SNP	ENST00000296658.3	37	c.26C>T	CCDS3878.1	.	.	.	.	.	.	.	.	.	.	g	17.43	3.387446	0.61956	.	.	ENSG00000164237	ENST00000296658	T	0.41758	0.99	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.46386	0.1390	M	0.82323	2.585	0.80722	D	1	P	0.43938	0.822	B	0.33846	0.171	T	0.55379	-0.8150	10	0.37606	T	0.19	-18.777	18.5887	0.91200	0.0:0.0:1.0:0.0	.	9	Q96DG6	CMBL_HUMAN	L	9	ENSP00000296658:P9L	ENSP00000296658:P9L	P	-	2	0	CMBL	10343849	1.000000	0.71417	0.514000	0.27761	0.078000	0.17371	6.884000	0.75600	2.648000	0.89879	0.645000	0.84053	CCG		0.468	CMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253689.1	NM_138809	
PRDM9	56979	broad.mit.edu	37	5	23523456	23523456	+	Silent	SNP	C	C	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr5:23523456C>A	ENST00000296682.3	+	9	1121	c.939C>A	c.(937-939)gcC>gcA	p.A313A		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	313	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AATCCTGGGCCAACTGGATGA	0.438										HNSCC(3;0.000094)																												uc003jgo.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(937-939)gcC>gcA		Homo sapiens PR domain containing 9 (PRDM9), mRNA.							125.0	120.0	122.0					5																	23523456		2203	4300	6503	SO:0001819	synonymous_variant	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23523456C>A	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.939C>A	5.37:g.23523456C>A		HNSCC(3;0.000094)					p.A313A	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			8	1121	+			313			SET.		B4DX22|Q27Q50	Silent	SNP	ENST00000296682.3	37	c.939C>A	CCDS43307.1																																																																																				0.438	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
HCN1	348980	broad.mit.edu	37	5	45262901	45262901	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr5:45262901A>G	ENST00000303230.4	-	8	1852	c.1795T>C	c.(1795-1797)Tca>Cca	p.S599P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	599					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGAAGAATTGAATTTTTCTTT	0.413																																						uc003jok.3																			0				NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						c.(1795-1797)Tca>Cca		Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.							42.0	39.0	40.0					5																	45262901		2203	4300	6503	SO:0001583	missense	348980					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	g.chr5:45262901A>G	AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.1795T>C	5.37:g.45262901A>G	ENSP00000307342:p.Ser599Pro						p.S599P	NM_021072	NP_066550	O60741	HCN1_HUMAN			7	1820	-			599						Missense_Mutation	SNP	ENST00000303230.4	37	c.1795T>C	CCDS3952.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.293836	0.80914	.	.	ENSG00000164588	ENST00000303230	D	0.86694	-2.16	6.16	6.16	0.99307	.	0.000000	0.56097	D	0.000021	D	0.90490	0.7021	M	0.72894	2.215	0.80722	D	1	D	0.55800	0.973	P	0.51297	0.665	D	0.91447	0.5178	10	0.87932	D	0	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	599	O60741	HCN1_HUMAN	P	599	ENSP00000307342:S599P	ENSP00000307342:S599P	S	-	1	0	HCN1	45298658	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	2.367000	0.80283	0.528000	0.53228	TCA		0.413	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072	
TRPC7	57113	broad.mit.edu	37	5	135692836	135692836	+	Silent	SNP	G	G	A	rs372900766		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr5:135692836G>A	ENST00000513104.1	-	2	522	c.240C>T	c.(238-240)aaC>aaT	p.N80N	TRPC7_ENST00000355180.3_Silent_p.N80N|TRPC7_ENST00000426057.2_Silent_p.N80N	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	80					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTGCAGAGCGTTCTGCCCCA	0.607																																						uc003lbn.2																			0				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46						c.(238-240)aaC>aaT		Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.							82.0	91.0	88.0					5																	135692836		2201	4298	6499	SO:0001819	synonymous_variant	57113				axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	g.chr5:135692836G>A	AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.240C>T	5.37:g.135692836G>A						TRPC7_uc010jef.2_Silent_p.N71N|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.N80N|TRPC7_uc010jei.2_Silent_p.N80N	p.N80N	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	462	-			80					A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Silent	SNP	ENST00000513104.1	37	c.240C>T	CCDS47267.2	.	.	.	.	.	.	.	.	.	.	G	6.726	0.502675	0.12822	.	.	ENSG00000069018	ENST00000352189;ENST00000378459;ENST00000502753	.	.	.	5.0	-5.05	0.02955	.	.	.	.	.	T	0.65407	0.2688	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65928	-0.6049	4	.	.	.	-26.9211	16.4055	0.83662	0.7618:0.0:0.2382:0.0	.	.	.	.	C	80	.	.	R	-	1	0	TRPC7	135720735	0.219000	0.23619	0.488000	0.27440	0.967000	0.64934	-0.323000	0.07997	-1.144000	0.02862	-1.036000	0.02392	CGC		0.607	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366975.1	NM_020389	
PPARGC1B	133522	broad.mit.edu	37	5	149212575	149212575	+	Silent	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr5:149212575C>T	ENST00000309241.5	+	5	971	c.939C>T	c.(937-939)ccC>ccT	p.P313P	PPARGC1B_ENST00000394320.3_Silent_p.P313P|PPARGC1B_ENST00000403750.1_Silent_p.P249P|PPARGC1B_ENST00000360453.4_Silent_p.P274P	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	313					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGCCACTCCCCAAGGCCTGCA	0.627																																						uc003lrc.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(937-939)ccC>ccT		Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.							42.0	49.0	46.0					5																	149212575		2203	4300	6503	SO:0001819	synonymous_variant	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149212575C>T	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.939C>T	5.37:g.149212575C>T						PPARGC1B_uc003lrb.2_Silent_p.P313P|PPARGC1B_uc003lrd.3_Silent_p.P274P|PPARGC1B_uc021yfr.1_Silent_p.P249P|PPARGC1B_uc003lre.1_Silent_p.P292P|PPARGC1B_uc003lrf.3_Silent_p.P292P	p.P313P	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		4	1030	+			313					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Silent	SNP	ENST00000309241.5	37	c.939C>T	CCDS4298.1																																																																																				0.627	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263	
FAT2	2196	broad.mit.edu	37	5	150901466	150901466	+	Missense_Mutation	SNP	G	G	A	rs375888956	byFrequency	TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr5:150901466G>A	ENST00000261800.5	-	18	10700	c.10688C>T	c.(10687-10689)aCg>aTg	p.T3563M		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3563	Cadherin 32. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATAGGTCAGCGTGTCCTGGGG	0.602													G|||	2	0.000399361	0.0	0.0	5008	,	,		21834	0.0		0.0	False		,,,				2504	0.002					uc003lue.4																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(10687-10689)aCg>aTg		Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.		G	MET/THR	0,4406		0,0,2203	96.0	85.0	89.0		10688	2.6	0.2	5		89	1,8599	1.2+/-3.3	0,1,4299	no	missense	FAT2	NM_001447.2	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	3563/4350	150901466	1,13005	2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150901466G>A	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.10688C>T	5.37:g.150901466G>A	ENSP00000261800:p.Thr3563Met					FAT2_uc003lud.4_Missense_Mutation_p.T256M	p.T3563M	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		17	10701	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3563			Cadherin 32.		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.10688C>T	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	12.04	1.818305	0.32145	0.0	1.16E-4	ENSG00000086570	ENST00000261800	T	0.38722	1.12	5.38	2.64	0.31445	Cadherin (3);Cadherin-like (1);	0.288241	0.29876	N	0.010968	T	0.55641	0.1933	L	0.56124	1.755	0.22693	N	0.998847	D;D	0.89917	1.0;1.0	D;D	0.66847	0.947;0.939	T	0.51663	-0.8677	10	0.42905	T	0.14	.	13.4529	0.61182	0.1912:0.0:0.8088:0.0	.	3563;754	Q9NYQ8;E9PDJ8	FAT2_HUMAN;.	M	3563	ENSP00000261800:T3563M	ENSP00000261800:T3563M	T	-	2	0	FAT2	150881659	0.995000	0.38212	0.174000	0.22961	0.582000	0.36321	2.468000	0.45102	0.088000	0.17205	-1.119000	0.02030	ACG		0.602	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447	
F13A1	2162	broad.mit.edu	37	6	6267040	6267040	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr6:6267040G>A	ENST00000264870.3	-	4	587	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	108					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TGTGGGTAGCGACCTATGAGA	0.448																																						uc003mwv.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62						c.(322-324)Cgc>Tgc		Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	L-Glutamine(DB00130)						144.0	141.0	142.0					6																	6267040		2203	4300	6503	SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6267040G>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.322C>T	6.37:g.6267040G>A	ENSP00000264870:p.Arg108Cys					F13A1_uc011dib.2_Missense_Mutation_p.R45C	p.R108C	NM_000129	NP_000120	P00488	F13A_HUMAN			3	445	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	108					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.322C>T	CCDS4496.1	.	.	.	.	.	.	.	.	.	.	G	16.24	3.067968	0.55539	.	.	ENSG00000124491	ENST00000264870;ENST00000441301;ENST00000414279;ENST00000431222	D;D	0.86769	-2.17;-2.17	5.65	5.65	0.86999	Immunoglobulin E-set (1);Transglutaminase, N-terminal (1);Immunoglobulin-like fold (1);	0.273259	0.37530	N	0.002046	D	0.89227	0.6655	L	0.57536	1.79	0.53688	D	0.999973	D;D	0.76494	0.999;0.999	P;P	0.56474	0.799;0.596	D	0.89257	0.3595	10	0.56958	D	0.05	.	18.7279	0.91722	0.0:0.0:1.0:0.0	.	45;108	F5H080;P00488	.;F13A_HUMAN	C	108;45;108;146	ENSP00000264870:R108C;ENSP00000413334:R108C	ENSP00000264870:R108C	R	-	1	0	F13A1	6212039	1.000000	0.71417	1.000000	0.80357	0.447000	0.32167	3.933000	0.56545	2.660000	0.90430	0.655000	0.94253	CGC		0.448	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129	
HIST1H2BA	255626	broad.mit.edu	37	6	25727485	25727485	+	Missense_Mutation	SNP	A	A	G			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr6:25727485A>G	ENST00000274764.2	+	1	349	c.349A>G	c.(349-351)Acc>Gcc	p.T117A	HIST1H2AA_ENST00000297012.3_5'Flank	NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	117					cellular response to acid chemical (GO:0071229)|chromatin organization (GO:0006325)|inflammatory response (GO:0006954)|mononuclear cell migration (GO:0071674)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|plasminogen activation (GO:0031639)|positive regulation of binding (GO:0051099)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)	extrinsic component of plasma membrane (GO:0019897)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.T117_S125delTKAVTKYTS(1)		breast(1)|kidney(1)	2						GTCTGAGGGCACCAAGGCTGT	0.488																																						uc003nfd.3																			1	Deletion - In frame(1)	p.T117_S125delTKAVTKYTS(1)	breast(1)	breast(1)|kidney(1)	2						c.(349-351)Acc>Gcc		Homo sapiens histone cluster 1, H2ba (HIST1H2BA), mRNA.							285.0	204.0	231.0					6																	25727485		2203	4300	6503	SO:0001583	missense	255626				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:25727485A>G	AF397301	CCDS4563.1	6p22.2	2011-01-27	2006-10-11		ENSG00000146047	ENSG00000146047		"""Histones / Replication-dependent"""	18730	protein-coding gene	gene with protein product		609904	"""H2B histone family, member U, (testis-specific)"", ""histone 1, H2ba"""			12408966, 12213818	Standard	NM_170610		Approved	bA317E16.3, STBP, TSH2B, H2BFU	uc003nfd.3	Q96A08	OTTHUMG00000014408	ENST00000274764.2:c.349A>G	6.37:g.25727485A>G	ENSP00000274764:p.Thr117Ala					HIST1H2AA_uc003nfc.3_5'Flank	p.T117A	NM_170610	NP_733759	Q96A08	H2B1A_HUMAN			0	349	+			117					B2R544|Q6NZ98|Q6NZA0|Q6NZA1	Missense_Mutation	SNP	ENST00000274764.2	37	c.349A>G	CCDS4563.1	.	.	.	.	.	.	.	.	.	.	A	12.65	2.001013	0.35320	.	.	ENSG00000146047	ENST00000274764	T	0.41758	0.99	3.5	0.913	0.19354	Histone-fold (2);	0.000000	0.64402	D	0.000001	T	0.37128	0.0992	H	0.97635	4.045	0.44555	D	0.997516	B	0.29232	0.238	B	0.21546	0.035	T	0.35201	-0.9798	10	0.87932	D	0	.	6.022	0.19634	0.6685:0.1691:0.0:0.1624	.	117	Q96A08	H2B1A_HUMAN	A	117	ENSP00000274764:T117A	ENSP00000274764:T117A	T	+	1	0	HIST1H2BA	25835464	1.000000	0.71417	0.391000	0.26233	0.010000	0.07245	5.951000	0.70273	0.190000	0.20209	0.524000	0.50904	ACC		0.488	HIST1H2BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040066.1	NM_170610	
ZBED9	114821	broad.mit.edu	37	6	28539828	28539828	+	Missense_Mutation	SNP	C	C	T	rs140560647		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr6:28539828C>T	ENST00000452236.2	-	4	4455	c.3838G>A	c.(3838-3840)Gga>Aga	p.G1280R		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						gtagagaatccggtctcacag	0.353																																						uc003nlo.3																			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.(3838-3840)Gga>Aga		Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.		C	ARG/GLY	1,4405	2.1+/-5.4	0,1,2202	70.0	72.0	71.0		3838	1.7	0.7	6	dbSNP_134	71	0,8600		0,0,4300	no	missense	SCAND3	NM_052923.1	125	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	1280/1326	28539828	1,13005	2203	4300	6503	SO:0001583	missense	114821				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	g.chr6:28539828C>T																												ENST00000452236.2:c.3838G>A	6.37:g.28539828C>T	ENSP00000395259:p.Gly1280Arg						p.G1280R	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN			3	4456	-			1280						Missense_Mutation	SNP	ENST00000452236.2	37	c.3838G>A	CCDS34355.1	.	.	.	.	.	.	.	.	.	.	C	12.17	1.857339	0.32791	2.27E-4	0.0	ENSG00000232040	ENST00000452236	T	0.21361	2.01	2.63	1.7	0.24286	HAT dimerisation (1);Ribonuclease H-like (1);	0.086182	0.43579	D	0.000543	T	0.20901	0.0503	M	0.89214	3.015	0.25528	N	0.987305	D	0.57571	0.98	P	0.50231	0.635	T	0.04090	-1.0978	10	0.59425	D	0.04	.	7.1505	0.25608	0.0:0.7194:0.2806:0.0	.	1280	Q6R2W3	SCND3_HUMAN	R	1280	ENSP00000395259:G1280R	ENSP00000395259:G1280R	G	-	1	0	SCAND3	28647807	0.834000	0.29399	0.711000	0.30485	0.735000	0.41995	0.728000	0.26013	0.612000	0.30071	0.655000	0.94253	GGA		0.353	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000043551.3		
VARS	7407	broad.mit.edu	37	6	31749730	31749730	+	Splice_Site	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr6:31749730C>T	ENST00000375663.3	-	19	2682		c.e19-1		VARS_ENST00000482996.1_Splice_Site|VARS_ENST00000444930.2_Splice_Site	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase						gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|valyl-tRNA aminoacylation (GO:0006438)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|valine-tRNA ligase activity (GO:0004832)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CATCAGGGTCCTGCCACAGGT	0.632																																						uc003nxe.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30						c.e19-1		Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	L-Valine(DB00161)						95.0	110.0	105.0					6																	31749730		1511	2709	4220	SO:0001630	splice_region_variant	7407				translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity	g.chr6:31749730C>T	BC012808	CCDS34412.1	6p21.3	2011-07-01		2005-07-05	ENSG00000204394	ENSG00000204394	6.1.1.9	"""Aminoacyl tRNA synthetases / Class I"""	12651	protein-coding gene	gene with protein product	"""valine tRNA ligase 1, cytoplasmic"""	192150	"""valyl-tRNA synthetase 2"""	VARS2		15779907	Standard	XM_005249362		Approved		uc003nxe.3	P26640	OTTHUMG00000031286	ENST00000375663.3:c.2242-1G>A	6.37:g.31749730C>T						VARS_uc021yuy.1_5'Flank|VARS_uc011doi.1_Splice_Site	p.D748_splice	NM_006295	NP_006286	P26640	SYVC_HUMAN			19	2665	-			748					B0V1N1|B4DZ61|Q5JQ90|Q96E77|Q9UQM2	Splice_Site	SNP	ENST00000375663.3	37	c.2242_splice	CCDS34412.1	.	.	.	.	.	.	.	.	.	.	C	13.54	2.266702	0.40095	.	.	ENSG00000204394	ENST00000375663;ENST00000428445	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9247	0.86173	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VARS	31857709	1.000000	0.71417	1.000000	0.80357	0.384000	0.30261	6.933000	0.75874	2.595000	0.87683	0.563000	0.77884	.		0.632	VARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076619.2	NM_006295	Intron
C6orf165	154313	broad.mit.edu	37	6	88140868	88140868	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr6:88140868C>T	ENST00000507897.1	+	10	1360	c.1277C>T	c.(1276-1278)gCa>gTa	p.A426V	C6ORF165_ENST00000369562.4_Missense_Mutation_p.A426V			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	426										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		ACGTTTGCTGCAACAGATGGT	0.378																																						uc003plv.3																			0				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1276-1278)gCa>gTa		Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.							103.0	93.0	96.0					6																	88140868		2203	4300	6503	SO:0001583	missense	154313							g.chr6:88140868C>T	BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.1277C>T	6.37:g.88140868C>T	ENSP00000426769:p.Ala426Val					C6orf165_uc003plu.2_Missense_Mutation_p.A426V|C6orf165_uc003plw.3_Missense_Mutation_p.A238V|C6orf165_uc010kbv.2_Non-coding_Transcript	p.A426V	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0419)	9	1400	+		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)	426					A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	c.1277C>T	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	C	5.692	0.312179	0.10789	.	.	ENSG00000213204	ENST00000369562	T	0.29655	1.56	5.61	1.07	0.20283	.	1.106010	0.06483	N	0.733293	T	0.03305	0.0096	N	0.03115	-0.41	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.40683	-0.9550	10	0.13108	T	0.6	.	4.91	0.13816	0.2817:0.4915:0.0:0.2268	.	426	Q8IYR0	CF165_HUMAN	V	426	ENSP00000358575:A426V	ENSP00000358575:A426V	A	+	2	0	C6orf165	88197587	0.001000	0.12720	0.045000	0.18777	0.446000	0.32137	0.101000	0.15251	0.263000	0.21812	0.655000	0.94253	GCA		0.378	C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823	
USP45	85015	broad.mit.edu	37	6	99930669	99930669	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr6:99930669G>A	ENST00000327681.6	-	8	1337	c.805C>T	c.(805-807)Cca>Tca	p.P269S	USP45_ENST00000472914.2_Missense_Mutation_p.P269S|USP45_ENST00000369233.2_Missense_Mutation_p.P269S|USP45_ENST00000392738.2_Intron|USP45_ENST00000500704.2_Missense_Mutation_p.P269S|USP45_ENST00000329966.6_Missense_Mutation_p.P269S	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	269	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		GGAGAAAGTGGTCCTTTTTCA	0.378																																						uc003ppx.2																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(805-807)Cca>Tca		Homo sapiens ubiquitin specific peptidase 45 (USP45), mRNA.							84.0	88.0	87.0					6																	99930669		2203	4300	6503	SO:0001583	missense	85015				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:99930669G>A	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.805C>T	6.37:g.99930669G>A	ENSP00000333376:p.Pro269Ser					USP45_uc003ppw.2_Intron|USP45_uc010kcq.2_Missense_Mutation_p.P269S|USP45_uc003pqa.3_Missense_Mutation_p.P269S	p.P269S	NM_001080481	NP_001073950	Q70EL2	UBP45_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0718)	7	1338	-		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)	269					B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Missense_Mutation	SNP	ENST00000327681.6	37	c.805C>T	CCDS34501.1	.	.	.	.	.	.	.	.	.	.	G	16.01	3.001294	0.54254	.	.	ENSG00000123552	ENST00000500704;ENST00000327681;ENST00000369233;ENST00000511403;ENST00000329966;ENST00000472914	T;T;T;T;T;T	0.73897	4.19;4.19;1.63;-0.79;1.63;1.63	5.45	4.58	0.56647	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.052308	0.85682	D	0.000000	T	0.50497	0.1619	N	0.21545	0.675	0.80722	D	1	B;P	0.34892	0.158;0.474	B;B	0.36885	0.125;0.235	T	0.58405	-0.7642	10	0.46703	T	0.11	.	14.5369	0.67966	0.0708:0.0:0.9292:0.0	.	269;269	D6RBV3;Q70EL2	.;UBP45_HUMAN	S	269;269;269;25;269;269	ENSP00000424372:P269S;ENSP00000333376:P269S;ENSP00000358236:P269S;ENSP00000423374:P25S;ENSP00000330540:P269S;ENSP00000423993:P269S	ENSP00000333376:P269S	P	-	1	0	USP45	100037390	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.037000	0.70956	1.444000	0.47605	0.650000	0.86243	CCA		0.378	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929	
PTPRK	5796	broad.mit.edu	37	6	128304041	128304041	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr6:128304041C>T	ENST00000368215.3	-	24	3468	c.3469G>A	c.(3469-3471)Gca>Aca	p.A1157T	PTPRK_ENST00000368227.3_Missense_Mutation_p.A1175T|PTPRK_ENST00000368213.5_Missense_Mutation_p.A1164T|PTPRK_ENST00000368226.4_Missense_Mutation_p.A1158T|PTPRK_ENST00000368210.3_Missense_Mutation_p.A1176T|PTPRK_ENST00000368207.3_Missense_Mutation_p.A1190T|PTPRK_ENST00000532331.1_Missense_Mutation_p.A1180T			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1157					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TCAAAATATGCAGCTTTAAAT	0.338																																						uc003qbk.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(3469-3471)Gca>Aca		Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.							94.0	99.0	97.0					6																	128304041		2203	4298	6501	SO:0001583	missense	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128304041C>T	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.3469G>A	6.37:g.128304041C>T	ENSP00000357198:p.Ala1157Thr					PTPRK_uc010kfc.3_Missense_Mutation_p.A1164T|PTPRK_uc003qbj.3_Missense_Mutation_p.A1158T|PTPRK_uc011ebu.2_Missense_Mutation_p.A1180T	p.A1157T	NM_002844	NP_002835	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	23	3836	-			1157					B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	ENST00000368215.3	37	c.3469G>A		.	.	.	.	.	.	.	.	.	.	C	13.85	2.358989	0.41801	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207	T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.83	4.96	0.65561	.	0.051466	0.85682	D	0.000000	T	0.16385	0.0394	N	0.11064	0.09	0.80722	D	1	B;B;D;D	0.56968	0.016;0.027;0.963;0.978	B;B;P;P	0.56788	0.028;0.042;0.644;0.806	T	0.04281	-1.0963	10	0.13470	T	0.59	.	14.3504	0.66697	0.0:0.9292:0.0:0.0708	.	1180;1164;1157;1158	B7ZMG0;Q15262-3;Q15262;Q15262-2	.;.;PTPRK_HUMAN;.	T	1158;1175;1180;1164;1176;1157;1190	ENSP00000357209:A1158T;ENSP00000357210:A1175T;ENSP00000432973:A1180T;ENSP00000357196:A1164T;ENSP00000357193:A1176T;ENSP00000357198:A1157T;ENSP00000357190:A1190T	ENSP00000357190:A1190T	A	-	1	0	PTPRK	128345734	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.038000	0.57318	2.758000	0.94735	0.585000	0.79938	GCA		0.338	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1		
TAAR5	9038	broad.mit.edu	37	6	132910519	132910519	+	Missense_Mutation	SNP	C	C	T	rs374786875		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr6:132910519C>T	ENST00000258034.2	-	1	358	c.307G>A	c.(307-309)Ggg>Agg	p.G103R		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	103					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|trimethylamine receptor activity (GO:1990081)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		AGGAAGTCCCCGAAGAACCAG	0.582																																						uc003qdk.2																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32						c.(307-309)Ggg>Agg		Homo sapiens trace amine associated receptor 5 (TAAR5), mRNA.		C	ARG/GLY	0,4406		0,0,2203	128.0	137.0	134.0		307	4.6	0.8	6		134	1,8599	1.2+/-3.3	0,1,4299	no	missense	TAAR5	NM_003967.2	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	103/338	132910519	1,13005	2203	4300	6503	SO:0001583	missense	9038				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity	g.chr6:132910519C>T	AF021818	CCDS5156.1	6q23.2	2012-08-08			ENSG00000135569	ENSG00000135569		"""GPCR / Class A : Trace amine associated receptors"""	30236	protein-coding gene	gene with protein product		607405				9464258, 15718104	Standard	NM_003967		Approved	PNR	uc003qdk.2	O14804	OTTHUMG00000015581	ENST00000258034.2:c.307G>A	6.37:g.132910519C>T	ENSP00000258034:p.Gly103Arg						p.G103R	NM_003967	NP_003958	O14804	TAAR5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)	0	359	-	Breast(56;0.112)		103					D8KZS1|Q2M1V1|Q4VBL1|Q5VUQ3|Q6NTA8	Missense_Mutation	SNP	ENST00000258034.2	37	c.307G>A	CCDS5156.1	.	.	.	.	.	.	.	.	.	.	C	14.26	2.482712	0.44147	0.0	1.16E-4	ENSG00000135569	ENST00000258034	T	0.50548	0.74	5.43	4.57	0.56435	GPCR, rhodopsin-like superfamily (1);	0.086903	0.45606	N	0.000351	T	0.68192	0.2974	M	0.93898	3.47	0.54753	D	0.999982	D	0.60575	0.988	D	0.63877	0.919	T	0.78863	-0.2036	10	0.87932	D	0	-5.22	14.1242	0.65210	0.0:0.9285:0.0:0.0715	.	103	O14804	TAAR5_HUMAN	R	103	ENSP00000258034:G103R	ENSP00000258034:G103R	G	-	1	0	TAAR5	132952212	0.998000	0.40836	0.768000	0.31515	0.618000	0.37518	3.883000	0.56168	1.531000	0.49152	0.655000	0.94253	GGG		0.582	TAAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042257.1	NM_003967	
DNAH11	8701	broad.mit.edu	37	7	21640705	21640705	+	Silent	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr7:21640705G>A	ENST00000409508.3	+	17	3364	c.3333G>A	c.(3331-3333)gtG>gtA	p.V1111V	DNAH11_ENST00000328843.6_Silent_p.V1111V	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1111	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGTTCAAGGTGGACATGAAGC	0.353									Kartagener syndrome																													uc003svc.3																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(3331-3333)gtG>gtA		Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.							132.0	126.0	128.0					7																	21640705		1861	4106	5967	SO:0001819	synonymous_variant	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21640705G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.3333G>A	7.37:g.21640705G>A							p.V1111V	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			16	3364	+			1111			Stem (By similarity).		Q9UJ82	Silent	SNP	ENST00000409508.3	37	c.3333G>A																																																																																					0.353	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777	
GPNMB	10457	broad.mit.edu	37	7	23286464	23286464	+	5'UTR	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr7:23286464G>A	ENST00000381990.2	+	0	149				GPNMB_ENST00000258733.4_5'UTR|GPNMB_ENST00000539136.1_5'UTR|GPNMB_ENST00000409458.3_5'UTR|GPNMB_ENST00000453162.2_5'UTR	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb						bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GCCTGCGTCCGTGAGAATTCA	0.488																																						uc003swc.3																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41								Homo sapiens glycoprotein (transmembrane) nmb (GPNMB), transcript variant 1, mRNA.							162.0	166.0	165.0					7																	23286464		2203	4300	6503	SO:0001623	5_prime_UTR_variant	10457				negative regulation of cell proliferation	melanosome		g.chr7:23286464G>A	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.-13G>A	7.37:g.23286464G>A						GPNMB_uc003swa.2_5'UTR|GPNMB_uc003swb.3_5'UTR|GPNMB_uc011jyy.2_5'UTR|GPNMB_uc011jyz.2_5'UTR		NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		0		+								A4D155|Q6UVX1|Q8N1A1	Translation_Start_Site	SNP	ENST00000381990.2	37		CCDS34610.1																																																																																				0.488	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340	
AVL9	23080	broad.mit.edu	37	7	32620473	32620473	+	Missense_Mutation	SNP	G	G	C	rs150772071	byFrequency	TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr7:32620473G>C	ENST00000318709.4	+	15	2023	c.1802G>C	c.(1801-1803)cGg>cCg	p.R601P	AVL9_ENST00000409301.1_Missense_Mutation_p.R583P|AVL9_ENST00000404479.1_Intron	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	601					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						ACAACTAGCCGGAATGTTGTA	0.353																																						uc003tcv.1																			0				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(1801-1803)cGg>cCg		Homo sapiens AVL9 homolog (S. cerevisiase) (AVL9), mRNA.							84.0	79.0	80.0					7																	32620473		2203	4300	6503	SO:0001583	missense	23080					integral to membrane		g.chr7:32620473G>C	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.1802G>C	7.37:g.32620473G>C	ENSP00000315568:p.Arg601Pro					AVL9_uc011kai.2_Intron|AVL9_uc010kwj.1_Missense_Mutation_p.G385R	p.R601P	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN			14	1948	+			601					Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	c.1802G>C	CCDS34613.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.226409|5.226409	0.95173|0.95173	.|.	.|.	ENSG00000105778|ENSG00000105778	ENST00000446718|ENST00000318709;ENST00000409301;ENST00000329714	T|T;T	0.46819|0.52983	0.86|0.64;0.71	5.99|5.99	5.99|5.99	0.97316|0.97316	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71626|0.71626	0.3362|0.3362	M|M	0.73962|0.73962	2.25|2.25	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	T|T	0.72421|0.72421	-0.4299|-0.4299	7|10	0.45353|0.87932	T|D	0.12|0	-17.0983|-17.0983	20.4777|20.4777	0.99188|0.99188	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|601	.|Q8NBF6	.|AVL9_HUMAN	R|P	475|601;583;543	ENSP00000395134:G475R|ENSP00000315568:R601P;ENSP00000387011:R583P	ENSP00000395134:G475R|ENSP00000315568:R601P	G|R	+|+	1|2	0|0	AVL9|AVL9	32586998|32586998	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	9.202000|9.202000	0.95026|0.95026	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GGA|CGG		0.353	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060	
EGFR	1956	broad.mit.edu	37	7	55210077	55210077	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr7:55210077G>A	ENST00000275493.2	+	2	364	c.187G>A	c.(187-189)Ggg>Agg	p.G63R	EGFR_ENST00000442591.1_Missense_Mutation_p.G63R|EGFR_ENST00000342916.3_Missense_Mutation_p.G63R|EGFR_ENST00000455089.1_Missense_Mutation_p.G63R|EGFR_ENST00000344576.2_Missense_Mutation_p.G63R|EGFR_ENST00000420316.2_Missense_Mutation_p.G63R|EGFR_ENST00000454757.2_Missense_Mutation_p.G10R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	63			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.G63R(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GGTGGTCCTTGGGAATTTGGA	0.398		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		1	Substitution - Missense(1)	p.V30_R297>G(5)|p.G63R(2)|p.L62R(2)	central_nervous_system(1)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(187-189)Ggg>Agg		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						174.0	167.0	169.0					7																	55210077		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55210077G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.187G>A	7.37:g.55210077G>A	ENSP00000275493:p.Gly63Arg	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.G63R|EGFR_uc003tqi.3_Missense_Mutation_p.G63R|EGFR_uc003tqj.3_Missense_Mutation_p.G63R|EGFR_uc022adm.1_Missense_Mutation_p.G63R|EGFR_uc010kzg.2_Missense_Mutation_p.G63R|EGFR_uc022adn.1_Missense_Mutation_p.G63R|EGFR_uc011kco.2_Missense_Mutation_p.G10R	p.G63R	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		1	433	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		63					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.187G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325432	0.81580	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000450046;ENST00000454757	D;D;D;D;D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59;-2.59;-2.59;-2.59;-2.59	6.05	6.05	0.98169	EGF receptor, L domain (1);	0.096922	0.64402	D	0.000001	D	0.96002	0.8698	H	0.95187	3.635	0.37218	D	0.905126	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.993;0.999;0.973;0.993;0.999	D	0.97967	1.0341	10	0.87932	D	0	.	13.4187	0.60985	0.0752:0.0:0.9248:0.0	.	63;63;63;63;63	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	R	63;63;63;63;63;63;10;10	ENSP00000415559:G63R;ENSP00000342376:G63R;ENSP00000345973:G63R;ENSP00000413843:G63R;ENSP00000275493:G63R;ENSP00000410031:G63R;ENSP00000413354:G10R;ENSP00000395243:G10R	ENSP00000275493:G63R	G	+	1	0	EGFR	55177571	1.000000	0.71417	0.998000	0.56505	0.695000	0.40330	7.677000	0.84024	2.878000	0.98634	0.650000	0.86243	GGG		0.398	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
GRM8	2918	broad.mit.edu	37	7	126173853	126173853	+	Missense_Mutation	SNP	G	G	A	rs537365104		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr7:126173853G>A	ENST00000339582.2	-	9	2391	c.1583C>T	c.(1582-1584)aCg>aTg	p.T528M	GRM8_ENST00000444921.2_Missense_Mutation_p.T528M|GRM8_ENST00000358373.3_Missense_Mutation_p.T528M|GRM8_ENST00000480995.1_Intron			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	528					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				CCCTTTCACCGTTTTCTTCCT	0.542										HNSCC(24;0.065)			G|||	1	0.000199681	0.0	0.0	5008	,	,		18363	0.0		0.0	False		,,,				2504	0.001					uc003vlr.2																			0		p.K527K(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(1582-1584)aCg>aTg		Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						85.0	85.0	85.0					7																	126173853		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126173853G>A		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1583C>T	7.37:g.126173853G>A	ENSP00000344173:p.Thr528Met	HNSCC(24;0.065)				GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.T528M|GRM8_uc010lkz.1_Non-coding_Transcript	p.T528M	NM_000845	NP_000836	O00222	GRM8_HUMAN			7	1894	-		Prostate(267;0.186)	528					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1583C>T	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	G	1.717	-0.497514	0.04291	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.89617	-2.54;-2.54;-2.54	5.8	4.92	0.64577	GPCR, family 3, nine cysteines domain (1);	0.100013	0.64402	D	0.000001	T	0.74261	0.3693	N	0.03999	-0.3	0.80722	D	1	B;B	0.16166	0.013;0.016	B;B	0.22880	0.002;0.042	T	0.69075	-0.5241	10	0.02654	T	1	.	14.0626	0.64808	0.0721:0.0:0.9279:0.0	.	528;528	O00222-2;O00222	.;GRM8_HUMAN	M	528	ENSP00000344173:T528M;ENSP00000409790:T528M;ENSP00000351142:T528M	ENSP00000344173:T528M	T	-	2	0	GRM8	125961089	0.754000	0.28360	0.709000	0.30452	0.984000	0.73092	1.180000	0.32005	1.468000	0.48064	0.643000	0.83706	ACG		0.542	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4		
TAS2R41	259287	broad.mit.edu	37	7	143175209	143175209	+	Nonsense_Mutation	SNP	C	C	T	rs376728592		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr7:143175209C>T	ENST00000408916.1	+	1	244	c.244C>T	c.(244-246)Cga>Tga	p.R82*	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	82					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					GGGTCTCGGCCGACAGTTCTT	0.542																																						uc003wdc.1																			0				endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18						c.(244-246)Cga>Tga		Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.		C	stop/ARG	0,4006		0,0,2003	105.0	106.0	106.0		244	2.0	0.0	7		106	1,8327		0,1,4163	no	stop-gained	TAS2R41	NM_176883.2		0,1,6166	TT,TC,CC		0.012,0.0,0.0081		82/308	143175209	1,12333	2003	4164	6167	SO:0001587	stop_gained	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175209C>T	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.244C>T	7.37:g.143175209C>T	ENSP00000386201:p.Arg82*					LOC285965_uc003wda.3_Intron	p.R82*	NM_176883	NP_795364	P59536	T2R41_HUMAN			0	244	+	Melanoma(164;0.15)		82					P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Nonsense_Mutation	SNP	ENST00000408916.1	37	c.244C>T	CCDS43663.1	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889530	0.33348	0.0	1.2E-4	ENSG00000221855	ENST00000408916	.	.	.	5.76	1.97	0.26223	.	1.027710	0.07767	U	0.951066	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	6.1291	0.20195	0.0:0.5494:0.2914:0.1592	.	.	.	.	X	82	.	ENSP00000386201:R82X	R	+	1	2	TAS2R41	142885331	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.900000	0.04097	0.090000	0.17273	-0.150000	0.13652	CGA		0.542	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1		
ZNF862	643641	broad.mit.edu	37	7	149557807	149557807	+	Nonsense_Mutation	SNP	G	G	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr7:149557807G>T	ENST00000223210.4	+	7	1803	c.1558G>T	c.(1558-1560)Gaa>Taa	p.E520*	RP4-751H13.7_ENST00000608963.1_RNA	NM_001099220.1	NP_001092690.1	O60290	ZN862_HUMAN	zinc finger protein 862	520					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						AAAATACCATGAAGTCAGCAA	0.488																																						uc010lpn.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(1)	34						c.(1558-1560)Gaa>Taa		Homo sapiens zinc finger protein 862 (ZNF862), mRNA.							65.0	69.0	68.0					7																	149557807		2015	4171	6186	SO:0001587	stop_gained	643641				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity	g.chr7:149557807G>T	AB011115	CCDS47741.1	7q36.1	2013-01-11			ENSG00000106479	ENSG00000106479		"""Zinc fingers, C2H2-type"", ""-"""	34519	protein-coding gene	gene with protein product							Standard	NM_001099220		Approved		uc010lpn.3	O60290	OTTHUMG00000158093	ENST00000223210.4:c.1558G>T	7.37:g.149557807G>T	ENSP00000223210:p.Glu520*						p.E520*	NM_001099220	NP_001092690	O60290	ZN862_HUMAN			6	1750	+			520					A0AUL8	Nonsense_Mutation	SNP	ENST00000223210.4	37	c.1558G>T	CCDS47741.1	.	.	.	.	.	.	.	.	.	.	G	39	7.615958	0.98390	.	.	ENSG00000106479	ENST00000223210	.	.	.	5.19	5.19	0.71726	.	0.000000	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-46.7857	14.2328	0.65906	0.0:0.0:1.0:0.0	.	.	.	.	X	520	.	ENSP00000223210:E520X	E	+	1	0	ZNF862	149188740	0.954000	0.32549	0.999000	0.59377	0.999000	0.98932	3.908000	0.56355	2.431000	0.82371	0.655000	0.94253	GAA		0.488	ZNF862-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350165.1	NM_001099220	
BMP1	649	broad.mit.edu	37	8	22020147	22020147	+	5'Flank	SNP	C	C	T	rs199854076		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr8:22020147C>T	ENST00000306385.5	+	0	0				BMP1_ENST00000397816.3_5'Flank|SFTPC_ENST00000522109.1_Missense_Mutation_p.R35C|SFTPC_ENST00000521315.1_Missense_Mutation_p.R35C|SFTPC_ENST00000318561.3_Missense_Mutation_p.R35C|BMP1_ENST00000306349.8_5'Flank|SFTPC_ENST00000437090.2_Missense_Mutation_p.R35C|SFTPC_ENST00000524255.1_Intron|BMP1_ENST00000354870.5_5'Flank|SFTPC_ENST00000520605.1_Intron|BMP1_ENST00000397814.3_5'Flank	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCACCTGAAACGCCTTCTTAT	0.602													C|||	1	0.000199681	0.0008	0.0	5008	,	,		11591	0.0		0.0	False		,,,				2504	0.0					uc003xaw.4																			0				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3						c.(250-252)Cgc>Tgc		Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA.		C	CYS/ARG,CYS/ARG,CYS/ARG	1,4181		0,1,2090	135.0	143.0	141.0		103,103,103	4.4	1.0	8		141	0,8426		0,0,4213	no	missense,missense,missense	SFTPC	NM_001172357.1,NM_001172410.1,NM_003018.3	180,180,180	0,1,6303	TT,TC,CC		0.0,0.0239,0.0079	probably-damaging,probably-damaging,probably-damaging	35/192,35/198,35/198	22020147	1,12607	2091	4213	6304	SO:0001631	upstream_gene_variant	6440				respiratory gaseous exchange	extracellular space		g.chr8:22020147C>T		CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761		8.37:g.22020147C>T	Exception_encountered					SFTPC_uc003xax.4_Missense_Mutation_p.R35C|SFTPC_uc003xay.4_Missense_Mutation_p.R35C|SFTPC_uc003xaz.3_Missense_Mutation_p.R35C|SFTPC_uc011kza.1_Missense_Mutation_p.R35C|SFTPC_uc022asz.1_5'Flank|BMP1_uc011kzb.2_5'Flank|BMP1_uc003xbf.3_5'Flank|BMP1_uc003xbb.3_5'Flank|BMP1_uc003xbc.3_5'Flank|BMP1_uc003xbd.3_5'Flank|BMP1_uc003xbe.3_5'Flank|BMP1_uc011kzc.2_5'Flank|BMP1_uc003xbg.3_5'Flank|BMP1_uc003xbh.3_5'Flank|BMP1_uc003xbi.3_5'Flank	p.R84C	NM_001172357	NP_001165828	P11686	PSPC_HUMAN		Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)	4	953	+			35					A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	ENST00000306385.5	37	c.250C>T	CCDS6026.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	21.3	4.126077	0.77436	2.39E-4	0.0	ENSG00000168484	ENST00000318561;ENST00000521315;ENST00000437090;ENST00000522109;ENST00000518615	D;D;D;D;D	0.95171	-3.63;-3.63;-3.63;-3.63;-3.63	4.41	4.41	0.53225	Surfactant protein C, N-terminal propeptide (1);	0.000000	0.41396	D	0.000890	D	0.96367	0.8815	M	0.67953	2.075	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	0.91635	0.992;0.999;0.998;0.999;0.998	D	0.96621	0.9459	10	0.87932	D	0	-28.2841	12.875	0.57986	0.0:1.0:0.0:0.0	.	35;35;35;35;35	P11686-2;E9PGX3;C9JYF6;P11686;E5RI92	.;.;.;PSPC_HUMAN;.	C	35	ENSP00000316152:R35C;ENSP00000430410:R35C;ENSP00000407931:R35C;ENSP00000429496:R35C;ENSP00000428817:R35C	ENSP00000316152:R35C	R	+	1	0	SFTPC	22076092	0.999000	0.42202	0.999000	0.59377	0.916000	0.54674	1.413000	0.34725	2.164000	0.68074	0.563000	0.77884	CGC		0.602	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132	
ADAM28	10863	broad.mit.edu	37	8	24199174	24199174	+	Silent	SNP	G	G	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr8:24199174G>T	ENST00000265769.4	+	16	1844	c.1734G>T	c.(1732-1734)cgG>cgT	p.R578R	ADAM28_ENST00000397649.3_Silent_p.R325R|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	578	Cys-rich.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.R578R(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GGAAAGGACGGATAGTGACTT	0.423																																					NSCLC(193;488 2149 22258 34798 40734)	uc003xdy.3																			1	Substitution - coding silent(1)	p.R578R(2)|p.R578L(1)	lung(1)	central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(1732-1734)cgG>cgT		Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.							257.0	242.0	247.0					8																	24199174		2203	4300	6503	SO:0001819	synonymous_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24199174G>T	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1734G>T	8.37:g.24199174G>T						ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.R265R	p.R578R	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	15	1817	+		Prostate(55;0.0959)	578			Cys-rich.		B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	c.1734G>T	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	G	0.401	-0.918517	0.02396	.	.	ENSG00000042980	ENST00000521629;ENST00000518326	.	.	.	5.84	-9.66	0.00534	.	.	.	.	.	T	0.13670	0.0331	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.20706	-1.0267	4	.	.	.	.	0.7704	0.01023	0.3107:0.1475:0.3076:0.2342	.	.	.	.	Y	211;4	.	.	D	+	1	0	ADAM28	24255119	0.000000	0.05858	0.002000	0.10522	0.049000	0.14656	-1.087000	0.03383	-0.984000	0.03507	-0.274000	0.10170	GAT		0.423	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778	
HOOK3	84376	broad.mit.edu	37	8	42841865	42841866	+	Frame_Shift_Ins	INS	-	-	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr8:42841865_42841866insA	ENST00000307602.4	+	15	1659_1660	c.1459_1460insA	c.(1459-1461)gaafs	p.E487fs		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	487					cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TTCGGACAATGAAAAAATAGCC	0.361			T	RET	papillary thyroid																																	uc003xpr.3				Dom	yes		8	8p11.21	84376	T	hook homolog 3			E	RET		papillary thyroid		0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31						c.(1459-1461)gaafs		Homo sapiens hook homolog 3 (Drosophila) (HOOK3), mRNA.																																				SO:0001589	frameshift_variant	84376				cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding	g.chr8:42841865_42841866insA	AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.1465dupA	8.37:g.42841871_42841871dupA	ENSP00000305699:p.Glu487fs					HOOK3_uc010lxq.1_Frame_Shift_Ins_p.E487fs	p.E487fs	NM_032410	NP_115786	Q86VS8	HOOK3_HUMAN	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)		14	1701_1702	+	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	487					D3DSY8|Q8NBH0|Q9BY13	Frame_Shift_Ins	INS	ENST00000307602.4	37	c.1459_1460insA	CCDS6139.1																																																																																				0.361	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383172.2	NM_032410	
UBE2W	55284	broad.mit.edu	37	8	74722708	74722709	+	Splice_Site	DNP	CC	CC	AA			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr8:74722708_74722709CC>AA	ENST00000602593.1	-	4	418_419	c.366_367GG>TT	c.(364-369)aaGGga>aaTTga	p.122_123KG>N*	UBE2W_ENST00000419880.3_Splice_Site_p.162_163KG>N*|UBE2W_ENST00000517608.1_Splice_Site_p.151_152KG>N*|UBE2W_ENST00000602969.1_Splice_Site_p.133_134KG>N*|RP11-463D19.2_ENST00000358757.5_Splice_Site_p.122_123KG>N*|UBE2W_ENST00000453587.2_Splice_Site_p.122_123KG>N*			Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)	122					cellular response to misfolded protein (GO:0071218)|DNA repair (GO:0006281)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein monoubiquitination (GO:0006513)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			AAAAGTCTTACCTTTTCCTTGC	0.332																																					Pancreas(14;490 592 20090 21022 23311)	uc003xzv.3																			0				kidney(1)|lung(1)	2						c.e4+1		Homo sapiens ubiquitin-conjugating enzyme E2W (putative) (UBE2W), transcript variant 2, mRNA.																																				SO:0001630	splice_region_variant	55284				protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr8:74722708_74722709CC>AA	AK001873	CCDS47874.1, CCDS47875.1, CCDS47874.2, CCDS47875.2	8q21.11	2010-07-07			ENSG00000104343	ENSG00000104343		"""Ubiquitin-conjugating enzymes E2"""	25616	protein-coding gene	gene with protein product		614277				12477932	Standard	NM_001001481		Approved	FLJ11011	uc003xzu.4	Q96B02	OTTHUMG00000164517	ENST00000602593.1:c.366_367delinsAA	8.37:g.74722708_74722709delinsAA						UBE2W_uc003xzt.2_Splice_Site_p.K122_splice|UBE2W_uc003xzu.3_Splice_Site_p.K133_splice|UBE2W_uc003xzw.3_Splice_Site	p.K122_splice	NM_018299	NP_060769	Q96B02	UBE2W_HUMAN	Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)		4	419	-	Breast(64;0.0311)		122					B4DIV1|Q1XBE0|Q9H823|Q9HAG6|Q9NV07	Splice_Site	DNP	ENST00000602593.1	37	c.366_splice																																																																																					0.332	UBE2W-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001481	Nonsense_Mutation
SLC26A7	115111	broad.mit.edu	37	8	92407320	92407320	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr8:92407320G>A	ENST00000276609.3	+	19	2205	c.1966G>A	c.(1966-1968)Gtc>Atc	p.V656I	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Missense_Mutation_p.V656I	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1			solute carrier family 26 (anion exchanger), member 7											breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CCACAGTGAAGTCTGAGACCC	0.393																																						uc003yex.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50						c.(1966-1968)Gtc>Atc		Homo sapiens solute carrier family 26, member 7 (SLC26A7), transcript variant 1, mRNA.							226.0	212.0	216.0					8																	92407320		2203	4300	6503	SO:0001583	missense	115111					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity	g.chr8:92407320G>A	AF331521	CCDS6254.1, CCDS6255.1, CCDS75765.1	8q23	2013-07-18	2013-07-18		ENSG00000147606	ENSG00000147606		"""Solute carriers"""	14467	protein-coding gene	gene with protein product		608479	"""solute carrier family 26, member 7"""			11834742, 11829495, 16524946	Standard	NM_134266		Approved	SUT2	uc003yez.3	Q8TE54	OTTHUMG00000164062	ENST00000276609.3:c.1966G>A	8.37:g.92407320G>A	ENSP00000276609:p.Val656Ile					SLC26A7_uc003yey.3_Non-coding_Transcript|SLC26A7_uc003yfa.3_Missense_Mutation_p.V656I	p.V656I	NM_052832	NP_439897	Q8TE54	S26A7_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.00802)		19	2244	+			656			Membrane targeting.			Missense_Mutation	SNP	ENST00000276609.3	37	c.1966G>A	CCDS6254.1	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534695	0.45073	.	.	ENSG00000147606	ENST00000523719;ENST00000276609	D;D	0.92752	-3.1;-3.1	6.05	4.22	0.49857	.	.	.	.	.	D	0.82903	0.5138	N	0.14661	0.345	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.74054	-0.3788	9	0.24483	T	0.36	.	9.6823	0.40078	0.0759:0.1406:0.7836:0.0	.	656	Q8TE54	S26A7_HUMAN	I	656	ENSP00000428849:V656I;ENSP00000276609:V656I	ENSP00000276609:V656I	V	+	1	0	SLC26A7	92476496	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	2.561000	0.45905	0.828000	0.34709	0.650000	0.86243	GTC		0.393	SLC26A7-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377011.1		
TG	7038	broad.mit.edu	37	8	133880390	133880390	+	Missense_Mutation	SNP	C	C	T			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr8:133880390C>T	ENST00000220616.4	+	2	138	c.98C>T	c.(97-99)cCc>cTc	p.P33L	TG_ENST00000377869.1_Missense_Mutation_p.P33L	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	33	Thyroglobulin type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCCCTTCGTCCCTGTGAGCTG	0.552																																						uc003ytw.3																			0				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168						c.(97-99)cCc>cTc		Homo sapiens thyroglobulin (TG), mRNA.							110.0	96.0	101.0					8																	133880390		2203	4300	6503	SO:0001583	missense	7038				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	g.chr8:133880390C>T	AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.98C>T	8.37:g.133880390C>T	ENSP00000220616:p.Pro33Leu						p.P33L	NM_003235	NP_003226	P01266	THYG_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)	1	139	+	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	33			Thyroglobulin type-1 1.		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	ENST00000220616.4	37	c.98C>T	CCDS34944.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.133245	0.77662	.	.	ENSG00000042832	ENST00000377869;ENST00000220616;ENST00000535932	T;T	0.64991	-0.13;-0.13	5.38	5.38	0.77491	Thyroglobulin type-1 (3);	0.099837	0.44688	D	0.000429	T	0.79868	0.4520	M	0.76433	2.335	0.46336	D	0.99899	D	0.89917	1.0	D	0.85130	0.997	T	0.82061	-0.0644	10	0.87932	D	0	.	18.1204	0.89569	0.0:1.0:0.0:0.0	.	33	P01266	THYG_HUMAN	L	33	ENSP00000367100:P33L;ENSP00000220616:P33L	ENSP00000220616:P33L	P	+	2	0	TG	133949572	0.960000	0.32886	0.112000	0.21494	0.984000	0.73092	2.599000	0.46231	2.523000	0.85059	0.462000	0.41574	CCC		0.552	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379606.1	NM_003235	
CYC1	1537	broad.mit.edu	37	8	145151572	145151572	+	Missense_Mutation	SNP	T	T	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr8:145151572T>A	ENST00000318911.4	+	5	770	c.697T>A	c.(697-699)Ttc>Atc	p.F233I	SHARPIN_ENST00000533948.1_5'Flank	NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	233					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGTCTCTACTTCAACCCCTA	0.582																																						uc003zaz.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15						c.(697-699)Ttc>Atc		Homo sapiens cytochrome c-1 (CYC1), nuclear gene encoding mitochondrial protein, mRNA.							86.0	78.0	80.0					8																	145151572		2203	4300	6503	SO:0001583	missense	1537				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	g.chr8:145151572T>A	BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"""Mitochondrial respiratory chain complex / Complex III"""	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.697T>A	8.37:g.145151572T>A	ENSP00000317159:p.Phe233Ile					CYC1_uc003zay.3_Missense_Mutation_p.F174I	p.F233I	NM_001916	NP_001907	P08574	CY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		4	740	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		233					Q5U062|Q6FHS7	Missense_Mutation	SNP	ENST00000318911.4	37	c.697T>A	CCDS6415.1	.	.	.	.	.	.	.	.	.	.	T	33	5.261852	0.95368	.	.	ENSG00000179091	ENST00000318911	T	0.50813	0.73	5.11	5.11	0.69529	Cytochrome c domain (2);	0.056558	0.64402	D	0.000001	T	0.68007	0.2954	M	0.80616	2.505	0.51482	D	0.99992	D	0.64830	0.994	D	0.67548	0.952	T	0.73241	-0.4045	10	0.87932	D	0	-21.4065	12.8595	0.57906	0.0:0.0:0.0:1.0	.	233	P08574	CY1_HUMAN	I	233	ENSP00000317159:F233I	ENSP00000317159:F233I	F	+	1	0	CYC1	145223560	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	7.477000	0.81069	1.932000	0.55993	0.459000	0.35465	TTC		0.582	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916	
APBA1	320	broad.mit.edu	37	9	72131360	72131360	+	Missense_Mutation	SNP	G	G	A	rs199962660		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr9:72131360G>A	ENST00000265381.4	-	2	989	c.767C>T	c.(766-768)gCg>gTg	p.A256V		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	256	Munc-18-1 binding.				axon cargo transport (GO:0008088)|cell adhesion (GO:0007155)|gamma-aminobutyric acid secretion (GO:0014051)|glutamate secretion (GO:0014047)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein complex assembly (GO:0006461)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synaptic vesicle (GO:0008021)	beta-amyloid binding (GO:0001540)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CGGGTAGGGCGCGAACTCGGC	0.682																																						uc004ahh.2																			0		p.A256T(2)|p.F255F(1)		endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						c.(766-768)gCg>gTg		Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.							38.0	29.0	32.0					9																	72131360		2201	4300	6501	SO:0001583	missense	320				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle		g.chr9:72131360G>A	AF029106	CCDS6630.1	9q13-q21	2008-07-18	2008-07-18		ENSG00000107282	ENSG00000107282			578	protein-coding gene	gene with protein product		602414		MINT1		7678331, 7719031	Standard	NM_001163		Approved	D9S411E, X11	uc004ahh.2	Q02410	OTTHUMG00000019984	ENST00000265381.4:c.767C>T	9.37:g.72131360G>A	ENSP00000265381:p.Ala256Val						p.A256V	NM_001163	NP_001154	Q02410	APBA1_HUMAN			1	1043	-			256			Munc-18-1 binding.		O14914|O60570|Q5VYR8	Missense_Mutation	SNP	ENST00000265381.4	37	c.767C>T	CCDS6630.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.062279	0.76187	.	.	ENSG00000107282	ENST00000265381	T	0.07216	3.21	5.77	5.77	0.91146	.	0.057532	0.64402	D	0.000001	T	0.07818	0.0196	L	0.29908	0.895	0.80722	D	1	P	0.44044	0.825	B	0.32289	0.143	T	0.11817	-1.0572	10	0.72032	D	0.01	.	19.9961	0.97386	0.0:0.0:1.0:0.0	.	256	Q02410	APBA1_HUMAN	V	256	ENSP00000265381:A256V	ENSP00000265381:A256V	A	-	2	0	APBA1	71321180	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	9.416000	0.97383	2.744000	0.94065	0.561000	0.74099	GCG		0.682	APBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052589.2	NM_001163	
DENND1A	57706	broad.mit.edu	37	9	126219637	126219637	+	Silent	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chr9:126219637G>A	ENST00000373624.2	-	15	1377	c.1176C>T	c.(1174-1176)ggC>ggT	p.G392G	DENND1A_ENST00000473039.1_Intron|DENND1A_ENST00000373620.3_Silent_p.G392G|DENND1A_ENST00000373618.1_Silent_p.G360G|DENND1A_ENST00000542603.1_Silent_p.G134G|DENND1A_ENST00000394219.3_Silent_p.G360G|DENND1A_ENST00000394215.2_Silent_p.G362G	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	392					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|regulation of Rab protein signal transduction (GO:0032483)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CAGCGTACTCGCCCATGTTGA	0.438																																						uc011lzm.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(1078-1080)ggC>ggT		Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.							145.0	139.0	141.0					9																	126219637		2203	4300	6503	SO:0001819	synonymous_variant	57706					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity	g.chr9:126219637G>A	AB046828	CCDS35133.1, CCDS35134.1	9q34.11	2012-10-03	2005-08-17	2005-08-17	ENSG00000119522	ENSG00000119522		"""DENN/MADD domain containing"""	29324	protein-coding gene	gene with protein product		613633	"""KIAA1608"""	KIAA1608		10997877	Standard	XM_005252109		Approved	FLJ21129, FAM31A	uc004bnz.1	Q8TEH3	OTTHUMG00000020643	ENST00000373624.2:c.1176C>T	9.37:g.126219637G>A						DENND1A_uc011lzl.1_Silent_p.G167G|DENND1A_uc004bny.1_Intron|DENND1A_uc004bnz.1_Silent_p.G392G|DENND1A_uc004boa.1_Silent_p.G392G|DENND1A_uc004bob.1_Silent_p.G362G|DENND1A_uc004boc.3_Silent_p.G360G	p.G360G	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN			12	1294	-			392			dDENN.		A8MZA3|B1AM80|B7Z3C8|B7Z669|D3PFD3|Q05C88|Q5VWF0|Q6PJZ5|Q8IVD6|Q9H796	Silent	SNP	ENST00000373624.2	37	c.1080C>T	CCDS35133.1																																																																																				0.438	DENND1A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053997.1	NM_024820	
ARSD	414	broad.mit.edu	37	X	2840042	2840042	+	Missense_Mutation	SNP	G	G	C			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chrX:2840042G>C	ENST00000381154.1	-	3	293	c.218C>G	c.(217-219)gCa>gGa	p.A73G	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	73					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCTTCCTCTGCAAGCTGGTC	0.547																																						uc004cqy.3																			0				large_intestine(3)|lung(3)	6						c.(217-219)gCa>gGa		Homo sapiens arylsulfatase D (ARSD), mRNA.							80.0	64.0	69.0					X																	2840042		2203	4300	6503	SO:0001583	missense	414					lysosome	arylsulfatase activity|metal ion binding	g.chrX:2840042G>C	X83572	CCDS35196.1	Xp22.3	2013-02-14			ENSG00000006756	ENSG00000006756		"""Arylsulfatase family"""	717	protein-coding gene	gene with protein product		300002				7720070	Standard	NM_001669		Approved		uc004cqy.3	P51689	OTTHUMG00000021077	ENST00000381154.1:c.218C>G	X.37:g.2840042G>C	ENSP00000370546:p.Ala73Gly					ARSD_uc004crb.4_Missense_Mutation_p.A73G	p.A73G	NM_001669	NP_001660	P51689	ARSD_HUMAN			2	318	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	73					Q9UHJ8	Missense_Mutation	SNP	ENST00000381154.1	37	c.218C>G	CCDS35196.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109977	0.37242	.	.	ENSG00000006756	ENST00000381154;ENST00000217890	D	0.96554	-4.05	2.9	2.01	0.26516	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	U	0.000000	D	0.98153	0.9390	M	0.93898	3.47	0.51012	D	0.999908	D;D;D	0.89917	0.999;1.0;0.995	D;D;D	0.85130	0.976;0.997;0.948	D	0.97305	0.9933	10	0.87932	D	0	.	8.7873	0.34830	0.1266:0.0:0.8734:0.0	.	73;73;73	P51689-2;E9PAW5;P51689	.;.;ARSD_HUMAN	G	73	ENSP00000370546:A73G	ENSP00000217890:A73G	A	-	2	0	ARSD	2850042	1.000000	0.71417	0.001000	0.08648	0.011000	0.07611	7.821000	0.86641	0.253000	0.21552	0.523000	0.50628	GCA		0.547	ARSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055636.1		
PPEF1	5475	broad.mit.edu	37	X	18845405	18845405	+	Missense_Mutation	SNP	G	G	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chrX:18845405G>A	ENST00000361511.4	+	19	2256	c.1762G>A	c.(1762-1764)Gtg>Atg	p.V588M	PPEF1_ENST00000349874.5_Missense_Mutation_p.V526M|PPEF1_ENST00000544635.1_Missense_Mutation_p.V523M|PPEF1_ENST00000543630.1_3'UTR|PPEF1_ENST00000359763.6_Missense_Mutation_p.V535M	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	588	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					CCTGATCTCCGTGGAAGAATT	0.418																																						uc004cyq.3																			0				breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43						c.(1762-1764)Gtg>Atg		Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.							85.0	79.0	81.0					X																	18845405		2203	4300	6503	SO:0001583	missense	5475				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	g.chrX:18845405G>A	BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1762G>A	X.37:g.18845405G>A	ENSP00000354871:p.Val588Met					PPEF1_uc004cyp.3_Missense_Mutation_p.V560M|PPEF1_uc004cyr.3_Missense_Mutation_p.V526M|PPEF1_uc004cys.3_Missense_Mutation_p.V588M|PPEF1_uc011mja.2_Missense_Mutation_p.V523M|PPEF1_uc011mjb.2_Missense_Mutation_p.V532M	p.V588M	NM_006240	NP_006231	O14829	PPE1_HUMAN			18	2243	+	Hepatocellular(33;0.183)		588			EF-hand 2.		A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	ENST00000361511.4	37	c.1762G>A	CCDS14188.1	.	.	.	.	.	.	.	.	.	.	a	0.086	-1.175394	0.01646	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000544635;ENST00000470157	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	5.35	1.43	0.22495	EF-hand-like domain (1);	0.480260	0.20535	N	0.090422	T	0.27765	0.0683	N	0.00413	-1.525	0.09310	N	0.999995	B;B;B	0.17667	0.023;0.002;0.002	B;B;B	0.09377	0.004;0.003;0.001	T	0.34004	-0.9846	10	0.08381	T	0.77	-1.3434	5.3765	0.16168	0.5363:0.1406:0.3231:0.0	.	526;588;560	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	M	588;535;526;523;50	ENSP00000354871:V588M;ENSP00000352806:V535M;ENSP00000341892:V526M;ENSP00000441289:V523M;ENSP00000419273:V50M	ENSP00000341892:V526M	V	+	1	0	PPEF1	18755326	0.037000	0.19845	0.977000	0.42913	0.334000	0.28698	0.199000	0.17237	-0.055000	0.13244	-0.356000	0.07607	GTG		0.418	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055953.3	NM_006240	
CCDC22	28952	broad.mit.edu	37	X	49093699	49093699	+	Missense_Mutation	SNP	G	G	A	rs199545573		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chrX:49093699G>A	ENST00000376227.3	+	2	367	c.197G>A	c.(196-198)cGc>cAc	p.R66H	CCDC22_ENST00000496651.1_3'UTR	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	66										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						GCCCGGTTCCGCCTGGCCATG	0.587													.|||	1	0.000264901	0.0	0.0014	3775	,	,		14727	0.0		0.0	False		,,,				2504	0.0					uc004dnd.2																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						c.(196-198)cGc>cAc		Homo sapiens coiled-coil domain containing 22 (CCDC22), mRNA.							72.0	53.0	59.0					X																	49093699		2203	4300	6503	SO:0001583	missense	28952							g.chrX:49093699G>A	BC000972	CCDS14322.1	Xp11.23	2008-02-05	2005-07-24	2005-07-24	ENSG00000101997	ENSG00000101997			28909	protein-coding gene	gene with protein product		300859	"""chromosome X open reading frame 37"""	CXorf37		12477932	Standard	NM_014008		Approved	JM1	uc004dnd.2	O60826	OTTHUMG00000024141	ENST00000376227.3:c.197G>A	X.37:g.49093699G>A	ENSP00000365401:p.Arg66His					CCDC22_uc011mna.2_Missense_Mutation_p.R66H	p.R66H	NM_014008	NP_054727	O60826	CCD22_HUMAN			1	367	+			66					A8K7G1	Missense_Mutation	SNP	ENST00000376227.3	37	c.197G>A	CCDS14322.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	19.96	3.923770	0.73213	.	.	ENSG00000101997	ENST00000376227;ENST00000538876	.	.	.	5.36	4.5	0.54988	.	0.000000	0.85682	D	0.000000	T	0.44074	0.1276	L	0.47716	1.5	0.44061	D	0.996801	P;P	0.43024	0.798;0.681	B;B	0.36608	0.229;0.168	T	0.45056	-0.9287	9	0.62326	D	0.03	-9.5232	12.0729	0.53626	0.0867:0.0:0.9133:0.0	.	66;66	B4DLA4;O60826	.;CCD22_HUMAN	H	66	.	ENSP00000365401:R66H	R	+	2	0	CCDC22	48980643	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.697000	0.91307	1.068000	0.40764	0.425000	0.28330	CGC		0.587	CCDC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060822.1	NM_014008	
GPR174	84636	broad.mit.edu	37	X	78427086	78427086	+	Missense_Mutation	SNP	T	T	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chrX:78427086T>A	ENST00000276077.1	+	1	618	c.582T>A	c.(580-582)ttT>ttA	p.F194L		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TGATTGGGTTTGTAACTCCGC	0.453										HNSCC(63;0.18)																												uc004edg.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						c.(580-582)ttT>ttA		Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.							111.0	102.0	105.0					X																	78427086		2203	4300	6503	SO:0001583	missense	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78427086T>A	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.582T>A	X.37:g.78427086T>A	ENSP00000276077:p.Phe194Leu	HNSCC(63;0.18)					p.F194L	NM_032553	NP_115942	Q9BXC1	GP174_HUMAN			0	618	+			194					Q2M3F7	Missense_Mutation	SNP	ENST00000276077.1	37	c.582T>A	CCDS14443.1	.	.	.	.	.	.	.	.	.	.	t	14.92	2.678469	0.47886	.	.	ENSG00000147138	ENST00000276077	T	0.76578	-1.03	5.08	3.95	0.45737	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.88058	0.6335	M	0.92122	3.275	0.44946	D	0.997969	D	0.89917	1.0	D	0.97110	1.0	D	0.87469	0.2413	10	0.56958	D	0.05	.	4.8967	0.13753	0.0:0.2373:0.0:0.7627	.	194	Q9BXC1	GP174_HUMAN	L	194	ENSP00000276077:F194L	ENSP00000276077:F194L	F	+	3	2	GPR174	78313742	0.011000	0.17503	0.969000	0.41365	0.380000	0.30137	0.162000	0.16501	1.673000	0.50895	0.397000	0.26171	TTT		0.453	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553	
SYTL4	94121	broad.mit.edu	37	X	99956599	99956599	+	Missense_Mutation	SNP	G	G	A	rs151147513		TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chrX:99956599G>A	ENST00000372989.1	-	5	512	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	SYTL4_ENST00000276141.6_Missense_Mutation_p.R61W|SYTL4_ENST00000263033.5_Missense_Mutation_p.R61W|SYTL4_ENST00000455616.1_Missense_Mutation_p.R61W|SYTL4_ENST00000372981.1_Missense_Mutation_p.R61W|SYTL4_ENST00000454200.2_Missense_Mutation_p.R61W	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	61	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GCACAGGTCCGATCACTGTAG	0.537													G|||	5	0.0013245	0.0	0.0	3775	,	,		12913	0.0		0.0	False		,,,				2504	0.0051					uc004egd.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27						c.(181-183)Cgg>Tgg		Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	G	TRP/ARG,TRP/ARG,TRP/ARG	0,3835		0,0,0,1632,571	77.0	72.0	74.0		181,181,181	1.1	1.0	X	dbSNP_134	74	5,6723		0,2,3,2426,1869	yes	missense,missense,missense	SYTL4	NM_001129896.2,NM_001174068.1,NM_080737.2	101,101,101	0,2,3,4058,2440	AA,AG,A,GG,G		0.0743,0.0,0.0473	probably-damaging,probably-damaging,probably-damaging	61/672,61/672,61/672	99956599	5,10558	2203	4300	6503	SO:0001583	missense	94121				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding	g.chrX:99956599G>A		CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.181C>T	X.37:g.99956599G>A	ENSP00000362080:p.Arg61Trp					SYTL4_uc010nnc.3_Missense_Mutation_p.R61W|SYTL4_uc004ege.4_Missense_Mutation_p.R61W|SYTL4_uc004egf.4_Missense_Mutation_p.R61W|SYTL4_uc004egg.4_Missense_Mutation_p.R61W	p.R61W	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN			4	537	-			61			RabBD.		Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	ENST00000372989.1	37	c.181C>T	CCDS14472.1	.	.	.	.	.	.	.	.	.	.	G	15.91	2.971183	0.53614	0.0	7.43E-4	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033;ENST00000372981	T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	5.01	1.06	0.20224	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	0.112956	0.64402	N	0.000010	T	0.74465	0.3720	M	0.86953	2.85	0.41027	D	0.985129	P;B	0.45768	0.866;0.452	B;B	0.38616	0.277;0.122	T	0.69741	-0.5063	9	.	.	.	-4.742	5.9435	0.19205	0.152:0.0:0.5646:0.2833	.	61;61	Q96C24-2;Q96C24	.;SYTL4_HUMAN	W	61	ENSP00000362080:R61W;ENSP00000390252:R61W;ENSP00000403556:R61W;ENSP00000276141:R61W;ENSP00000263033:R61W;ENSP00000362072:R61W	.	R	-	1	2	SYTL4	99843255	1.000000	0.71417	0.985000	0.45067	0.996000	0.88848	1.851000	0.39338	-0.141000	0.11374	0.600000	0.82982	CGG		0.537	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057488.1	NM_080737	
ZCCHC12	170261	broad.mit.edu	37	X	117959260	117959260	+	Missense_Mutation	SNP	T	T	G			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chrX:117959260T>G	ENST00000310164.2	+	4	560	c.53T>G	c.(52-54)tTg>tGg	p.L18W		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	18					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						AATGCACCCTTGCCGCCTTGG	0.537																																						uc004equ.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						c.(52-54)tTg>tGg		Homo sapiens zinc finger, CCHC domain containing 12 (ZCCHC12), mRNA.							74.0	65.0	68.0					X																	117959260		2203	4300	6503	SO:0001583	missense	170261				regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	g.chrX:117959260T>G	AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.53T>G	X.37:g.117959260T>G	ENSP00000308921:p.Leu18Trp					ZCCHC12_uc022cdh.1_Missense_Mutation_p.L18W	p.L18W	NM_173798	NP_776159	Q6PEW1	ZCH12_HUMAN			3	526	+			18					B3KV48|Q6PID5|Q8N1C1	Missense_Mutation	SNP	ENST00000310164.2	37	c.53T>G	CCDS14574.1	.	.	.	.	.	.	.	.	.	.	T	14.59	2.579589	0.46006	.	.	ENSG00000174460	ENST00000310164	T	0.10573	2.86	3.05	3.05	0.35203	.	0.000000	0.28641	N	0.014622	T	0.26011	0.0634	M	0.75447	2.3	0.30812	N	0.738789	D	0.76494	0.999	D	0.66351	0.943	T	0.08806	-1.0704	10	0.72032	D	0.01	-2.5596	6.9454	0.24516	0.0:0.0:0.0:1.0	.	18	Q6PEW1	ZCH12_HUMAN	W	18	ENSP00000308921:L18W	ENSP00000308921:L18W	L	+	2	0	ZCCHC12	117843288	0.999000	0.42202	0.950000	0.38849	0.767000	0.43475	3.090000	0.50191	1.444000	0.47605	0.430000	0.28490	TTG		0.537	ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798	
KIAA1210	57481	broad.mit.edu	37	X	118250604	118250604	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chrX:118250604C>A	ENST00000402510.2	-	4	504	c.505G>T	c.(505-507)Gcc>Tcc	p.A169S		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	169										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTCTTAAGGGCTTTAAATTTG	0.398																																						uc004era.4																			0				breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						c.(505-507)Gcc>Tcc		Homo sapiens KIAA1210 (KIAA1210), mRNA.							92.0	76.0	81.0					X																	118250604		1851	4072	5923	SO:0001583	missense	57481							g.chrX:118250604C>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.505G>T	X.37:g.118250604C>A	ENSP00000384670:p.Ala169Ser						p.A169S	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			3	505	-			169					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.505G>T	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	C	7.565	0.665590	0.14710	.	.	ENSG00000250423;ENSG00000241087	ENST00000402510;ENST00000420240	T	0.11385	2.78	5.14	3.35	0.38373	.	.	.	.	.	T	0.09862	0.0242	N	0.14661	0.345	0.22827	N	0.998688	P	0.50943	0.94	P	0.51135	0.66	T	0.18366	-1.0339	9	0.46703	T	0.11	.	6.5142	0.22239	0.0:0.7798:0.0:0.2202	.	169	Q9ULL0	K1210_HUMAN	S	169;5	ENSP00000384670:A169S	ENSP00000396164:A5S	A	-	1	0	RP13-347D8.5;RP13-347D8.6	118134632	0.995000	0.38212	0.660000	0.29694	0.050000	0.14768	0.973000	0.29422	1.084000	0.41184	-0.192000	0.12808	GCC		0.398	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721	
GPR112	139378	broad.mit.edu	37	X	135455198	135455198	+	Missense_Mutation	SNP	C	C	A			TCGA-14-1034-02B-01D-2280-08	TCGA-14-1034-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7cae6c0b-36fe-411b-bbba-093a4c846d84	bfb563cb-42cd-417a-8e69-96c23c514170	g.chrX:135455198C>A	ENST00000394143.1	+	15	8042	c.7751C>A	c.(7750-7752)tCc>tAc	p.S2584Y	GPR112_ENST00000370652.1_Missense_Mutation_p.S2584Y|GPR112_ENST00000287534.4_Missense_Mutation_p.S2382Y|GPR112_ENST00000394141.1_Missense_Mutation_p.S2379Y|GPR112_ENST00000412101.1_Missense_Mutation_p.S2379Y	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2584					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGCATTCACTCCTATGAAGAA	0.537																																						uc004ezu.1																			0		p.H2583D(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199						c.(7750-7752)tCc>tAc		Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.							206.0	181.0	190.0					X																	135455198		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135455198C>A	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.7751C>A	X.37:g.135455198C>A	ENSP00000377699:p.Ser2584Tyr					GPR112_uc010nsb.1_Missense_Mutation_p.S2379Y	p.S2584Y	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			14	8042	+	Acute lymphoblastic leukemia(192;0.000127)		2584					A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.7751C>A	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.772596	0.31411	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.32023	1.5;1.5;1.47;1.7;1.47	5.24	4.32	0.51571	.	.	.	.	.	T	0.37732	0.1014	N	0.19112	0.55	0.09310	N	1	D;D	0.89917	1.0;0.994	D;D	0.87578	0.998;0.987	T	0.13442	-1.0509	9	0.36615	T	0.2	.	10.494	0.44766	0.1926:0.8074:0.0:0.0	.	2379;2584	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	Y	2584;2584;2379;2382;2379	ENSP00000377699:S2584Y;ENSP00000359686:S2584Y;ENSP00000416526:S2379Y;ENSP00000287534:S2382Y;ENSP00000377697:S2379Y	ENSP00000287534:S2382Y	S	+	2	0	GPR112	135282864	0.250000	0.23951	0.059000	0.19551	0.174000	0.22865	2.388000	0.44398	2.309000	0.77851	0.594000	0.82650	TCC		0.537	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1		
