#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ZNF311	282890	broad.mit.edu	37	6	28963545	28963545	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr6:28963545C>T	ENST00000377179.3	-	7	1746	c.1234G>A	c.(1234-1236)Gaa>Aaa	p.E412K	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	412					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)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						TAAGGTCGTTCCCCAGTGTGG	0.512																																						ENST00000377179.3																			0				NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						c.(1234-1236)Gaa>Aaa		zinc finger protein 311							87.0	82.0	84.0					6																	28963545		1510	2709	4219	SO:0001583	missense	282890				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:28963545C>T	AL833166	CCDS34357.1	6p21.33	2013-01-08			ENSG00000197935	ENSG00000197935		"""Zinc fingers, C2H2-type"", ""-"""	13847	protein-coding gene	gene with protein product							Standard	XM_006715067		Approved		uc003nlu.2	Q5JNZ3	OTTHUMG00000031292	ENST00000377179.3:c.1234G>A	6.37:g.28963545C>T	ENSP00000366384:p.Glu412Lys					ZNF311_ENST00000483450.1_5'UTR	p.E412K	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN			7	1746	-			412					A2BFK5|B0S7Y4|Q92971	Missense_Mutation	SNP	ENST00000377179.3	37	c.1234G>A	CCDS34357.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.109059	0.77096	.	.	ENSG00000197935	ENST00000377179;ENST00000535083	T	0.24350	1.86	3.57	3.57	0.40892	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.28300	0.0699	L	0.33668	1.02	0.39140	D	0.962017	D	0.89917	1.0	D	0.91635	0.999	T	0.06588	-1.0818	9	0.54805	T	0.06	-16.3737	13.4785	0.61322	0.0:1.0:0.0:0.0	.	412	Q5JNZ3	ZN311_HUMAN	K	412;320	ENSP00000366384:E412K	ENSP00000366384:E412K	E	-	1	0	ZNF311	29071524	1.000000	0.71417	0.698000	0.30274	0.589000	0.36550	4.812000	0.62613	1.928000	0.55862	0.585000	0.79938	GAA		0.512	ZNF311-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076631.3	XM_212581		9	71	0	0	0	1	0	9	71				
HRAS	3265	broad.mit.edu	37	11	533874	533874	+	Missense_Mutation	SNP	T	T	A	rs121913233		TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr11:533874T>A	ENST00000451590.1	-	3	369	c.182A>T	c.(181-183)cAg>cTg	p.Q61L	HRAS_ENST00000311189.7_Missense_Mutation_p.Q61L|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61L|HRAS_ENST00000417302.1_Missense_Mutation_p.Q61L|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61L	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	61			Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406). {ECO:0000269|PubMed:12727991}.|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|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 JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GTACTCCTCCTGGCCGGCGGT	0.597	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												ENST00000417302.1	Q61L(KNS62_LUNG)|Q61L(KYSE30_OESOPHAGUS)|Q61L(NCIH1915_LUNG)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""	"""infrequent sarcomas, rare other types"""		256	Substitution - Missense(256)	p.Q61R(136)|p.Q61L(117)|p.Q61P(3)	skin(70)|thyroid(58)|urinary_tract(53)|prostate(23)|upper_aerodigestive_tract(22)|lung(11)|salivary_gland(6)|haematopoietic_and_lymphoid_tissue(5)|testis(3)|liver(2)|cervix(1)|penis(1)|oesophagus(1)	adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901						c.(181-183)cAg>cTg		Harvey rat sarcoma viral oncogene homolog	Sulindac(DB00605)						117.0	102.0	107.0					11																	533874		2203	4300	6503	SO:0001583	missense	3265	Costello syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:533874T>A	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.182A>T	11.37:g.533874T>A	ENSP00000407586:p.Gln61Leu	HNSCC(11;0.0054)				HRAS_ENST00000451590.1_Missense_Mutation_p.Q61L|HRAS_ENST00000397596.2_Missense_Mutation_p.Q61L|HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000311189.7_Missense_Mutation_p.Q61L|HRAS_ENST00000397594.1_Missense_Mutation_p.Q61L	p.Q61L	NM_176795.3	NP_789765.1	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	369	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	61		Q -> K (in follicular thyroid carcinoma samples; somatic mutation; increases transformation of cultured cell lines; dbSNP:rs28933406).|Q -> L (in melanoma; strongly reduced GTP hydrolysis in the presence of RAF1; increases transformation of cultured cell lines).			B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.182A>T	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	T	15.80	2.940577	0.52972	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79	3.64	3.64	0.41730	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89167	0.6638	H	0.97131	3.945	0.80722	D	1	P;P	0.36412	0.507;0.552	B;B	0.40329	0.145;0.326	D	0.91290	0.5058	10	0.72032	D	0.01	.	11.8872	0.52608	0.0:0.0:0.0:1.0	.	61;61	P01112-2;P01112	.;RASH_HUMAN	L	61	ENSP00000380722:Q61L;ENSP00000380723:Q61L;ENSP00000407586:Q61L;ENSP00000388246:Q61L;ENSP00000309845:Q61L	ENSP00000309845:Q61L	Q	-	2	0	HRAS	523874	1.000000	0.71417	0.985000	0.45067	0.482000	0.33219	7.727000	0.84838	1.662000	0.50781	0.459000	0.35465	CAG		0.597	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		23	70	0	0	0	1	0	23	70				
FAM175B	23172	broad.mit.edu	37	10	126523309	126523309	+	Silent	SNP	T	T	C			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr10:126523309T>C	ENST00000298492.5	+	9	1062	c.1017T>C	c.(1015-1017)tcT>tcC	p.S339S		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	339					cellular response to freezing (GO:0071497)	BRISC complex (GO:0070552)|cytoplasm (GO:0005737)	polyubiquitin binding (GO:0031593)			NS(1)	1						CTGTGGGCTCTTCCAATTATG	0.512																																						ENST00000298492.5																			0				NS(1)	1						c.(1015-1017)tcT>tcC		family with sequence similarity 175, member B							98.0	88.0	92.0					10																	126523309		2203	4300	6503	SO:0001819	synonymous_variant	23172					BRISC complex	polyubiquitin binding	g.chr10:126523309T>C	D63877	CCDS31308.2	10q26.2	2013-01-24	2008-07-02	2008-07-02	ENSG00000165660	ENSG00000165660			28975	protein-coding gene	gene with protein product	"""Abraxas brother"""	611144	"""KIAA0157"""	KIAA0157		8590280	Standard	NM_032182		Approved	Em:AC068896.4, ABRO1	uc001lib.4	Q15018	OTTHUMG00000019218	ENST00000298492.5:c.1017T>C	10.37:g.126523309T>C							p.S339S	NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN			9	1062	+			339					B4DKR2|Q96H11	Silent	SNP	ENST00000298492.5	37	c.1017T>C	CCDS31308.2																																																																																				0.512	FAM175B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050891.2	NM_032182		10	23	0	0	0	1	0	10	23				
SLC35G3	146861	broad.mit.edu	37	17	33520392	33520392	+	Missense_Mutation	SNP	G	G	C	rs375936006		TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr17:33520392G>C	ENST00000297307.5	-	1	1020	c.935C>G	c.(934-936)gCg>gGg	p.A312G	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	312	EamA 2.					integral component of membrane (GO:0016021)		p.A312G(4)									AACCCCTGCCGCCACGATGTC	0.567																																						ENST00000297307.5																			4	Substitution - Missense(4)	p.A312G(4)	kidney(4)								c.(934-936)gCg>gGg		solute carrier family 35, member G3							142.0	127.0	132.0					17																	33520392		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520392G>C	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.935C>G	17.37:g.33520392G>C	ENSP00000297307:p.Ala312Gly						p.A312G	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1020	-			312			DUF6 2.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.935C>G	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.804722	0.00611	.	.	ENSG00000164729	ENST00000297307	T	0.57273	0.41	.	.	.	.	0.000000	0.45126	N	0.000398	T	0.11067	0.0270	N	0.01048	-1.04	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.30475	-0.9977	8	0.02654	T	1	-1.3046	.	.	.	.	312	Q8N808	S35G3_HUMAN	G	312	ENSP00000297307:A312G	ENSP00000297307:A312G	A	-	2	0	SLC35G3	30544505	1.000000	0.71417	0.032000	0.17829	0.032000	0.12392	1.924000	0.40065	-2.418000	0.00566	-2.366000	0.00237	GCG		0.567	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		4	77	0	0	0	1	0	4	77				
HOXC10	3226	broad.mit.edu	37	12	54379494	54379494	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr12:54379494G>A	ENST00000303460.4	+	1	525	c.451G>A	c.(451-453)Gcc>Acc	p.A151T	RP11-834C11.12_ENST00000513209.1_5'Flank|HOXC-AS3_ENST00000567780.1_RNA|HOXC-AS3_ENST00000509870.1_RNA|HOXC-AS3_ENST00000513165.1_RNA|HOXC-AS3_ENST00000514702.1_RNA	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	151					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						CTACTACCGCGCCAGCCCGAG	0.677																																						ENST00000303460.4																			0				endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						c.(451-453)Gcc>Acc		homeobox C10							29.0	29.0	29.0					12																	54379494		2203	4300	6503	SO:0001583	missense	3226				positive regulation of cell proliferation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:54379494G>A		CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"""Homeoboxes / ANTP class : HOXL subclass"""	5122	protein-coding gene	gene with protein product		605560	"""homeo box C10"""	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.451G>A	12.37:g.54379494G>A	ENSP00000307321:p.Ala151Thr						p.A151T	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN			1	525	+			151					O15219|O15220|Q9BVD5	Missense_Mutation	SNP	ENST00000303460.4	37	c.451G>A	CCDS8868.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254708	0.39896	.	.	ENSG00000180818	ENST00000515593;ENST00000303460	D	0.91521	-2.86	4.57	2.7	0.31948	.	0.191049	0.46145	D	0.000311	D	0.83811	0.5335	L	0.40543	1.245	0.43545	D	0.995849	B	0.25850	0.136	B	0.11329	0.006	T	0.79482	-0.1785	10	0.41790	T	0.15	.	9.4856	0.38928	0.1803:0.0:0.8197:0.0	.	151	Q9NYD6	HXC10_HUMAN	T	39;151	ENSP00000307321:A151T	ENSP00000307321:A151T	A	+	1	0	HOXC10	52665761	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.334000	0.43920	1.054000	0.40438	0.511000	0.50034	GCC		0.677	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358952.2			3	40	0	0	0	1	0	3	40				
NPIPB6	728741	broad.mit.edu	37	16	28354353	28354353	+	Missense_Mutation	SNP	T	T	G	rs1794256	byFrequency	TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr16:28354353T>G	ENST00000532254.1	-	7	1538	c.853A>C	c.(853-855)Act>Cct	p.T285P	NPIPB6_ENST00000533640.1_Missense_Mutation_p.T267P	NM_001282524.1	NP_001269453.1	E9PJ23	NPIB6_HUMAN	nuclear pore complex interacting protein family, member B6	285	Pro-rich.							p.T285P(4)									AGACACTCAGTAGGTGTCTTG	0.507													.|||	997	0.199081	0.2231	0.3617	5008	,	,		17318	0.1865		0.1839	False		,,,				2504	0.0798					ENST00000532254.1																			4	Substitution - Missense(4)	p.T285P(4)	urinary_tract(2)|endometrium(2)								c.(853-855)Act>Cct		nuclear pore complex interacting protein family, member B6																																				SO:0001583	missense	728741							g.chr16:28354353T>G		CCDS61892.1	16p11.2	2013-06-11			ENSG00000198156	ENSG00000198156			37454	protein-coding gene	gene with protein product							Standard	XM_005255741		Approved			E9PJ23	OTTHUMG00000166319	ENST00000532254.1:c.853A>C	16.37:g.28354353T>G	ENSP00000431871:p.Thr285Pro					NPIPB6_ENST00000533640.1_Missense_Mutation_p.T267P	p.T285P							7	1538	-									Missense_Mutation	SNP	ENST00000532254.1	37	c.853A>C		.	.	.	.	.	.	.	.	.	.	-	0.001	-4.151814	0.00001	.	.	ENSG00000198156	ENST00000533640;ENST00000532254	T;T	0.24908	1.83;1.83	.	.	.	.	.	.	.	.	T	0.03915	0.0110	N	0.00823	-1.155	0.80722	P	0.0	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.17349	-1.0372	6	0.02654	T	1	.	.	.	.	rs1794256	285;267	E9PJ23;E9PS57	.;.	P	267;285	ENSP00000435924:T267P;ENSP00000431871:T285P	ENSP00000431871:T285P	T	-	1	0	RP11-57A19.3	28261854	0.006000	0.16342	0.001000	0.08648	0.001000	0.01503	-2.356000	0.01087	-4.094000	0.00074	-4.079000	0.00012	ACT		0.507	NPIPB6-002	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000389133.1	XM_001717652		4	40	0	0	0	1	0	4	40				
TTC9C	283237	broad.mit.edu	37	11	62502998	62502998	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr11:62502998G>A	ENST00000316461.4	+	2	693	c.383G>A	c.(382-384)cGc>cAc	p.R128H	TTC9C_ENST00000513247.2_3'UTR|TTC9C_ENST00000532583.1_Missense_Mutation_p.R128H	NM_173810.3	NP_776171.1	Q8N5M4	TTC9C_HUMAN	tetratricopeptide repeat domain 9C	128										breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						GACCAGGCCCGCCACTACCTC	0.512																																						ENST00000316461.4																			0				breast(1)|endometrium(1)|lung(2)|ovary(1)|pancreas(1)	6						c.(382-384)cGc>cAc		tetratricopeptide repeat domain 9C							36.0	34.0	35.0					11																	62502998		2202	4298	6500	SO:0001583	missense	283237						binding	g.chr11:62502998G>A	BC032123	CCDS8033.1	11q12.3	2013-01-10			ENSG00000162222	ENSG00000162222		"""Tetratricopeptide (TTC) repeat domain containing"""	28432	protein-coding gene	gene with protein product							Standard	NM_173810		Approved	MGC29649	uc001nuy.3	Q8N5M4	OTTHUMG00000167607	ENST00000316461.4:c.383G>A	11.37:g.62502998G>A	ENSP00000325266:p.Arg128His					TTC9C_ENST00000513247.2_3'UTR|TTC9C_ENST00000532583.1_Missense_Mutation_p.R128H	p.R128H	NM_173810.3	NP_776171.1	Q8N5M4	TTC9C_HUMAN			2	693	+			128					Q8WYY7	Missense_Mutation	SNP	ENST00000316461.4	37	c.383G>A	CCDS8033.1	.	.	.	.	.	.	.	.	.	.	G	11.19	1.566967	0.28003	.	.	ENSG00000162222	ENST00000530625;ENST00000316461;ENST00000532583;ENST00000532276	D;D;D;D	0.89196	-2.48;-2.48;-2.48;-2.48	6.04	3.05	0.35203	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	.	.	.	.	D	0.82472	0.5044	L	0.45137	1.4	0.46336	D	0.998998	B	0.02656	0.0	B	0.01281	0.0	T	0.73040	-0.4108	9	0.37606	T	0.19	.	7.4153	0.27040	0.3651:0.0:0.6349:0.0	.	128	Q8N5M4	TTC9C_HUMAN	H	128;128;128;26	ENSP00000435282:R128H;ENSP00000325266:R128H;ENSP00000434340:R128H;ENSP00000434137:R26H	ENSP00000325266:R128H	R	+	2	0	TTC9C	62259574	0.305000	0.24481	0.964000	0.40570	0.605000	0.37080	0.281000	0.18810	0.372000	0.24591	0.563000	0.77884	CGC		0.512	TTC9C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395338.1	NM_173810		3	25	0	0	0	1	0	3	25				
DCLK1	9201	broad.mit.edu	37	13	36385001	36385001	+	Silent	SNP	G	G	A	rs144489471	byFrequency	TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr13:36385001G>A	ENST00000360631.3	-	12	1870	c.1659C>T	c.(1657-1659)taC>taT	p.Y553Y	DCLK1_ENST00000255448.4_Silent_p.Y553Y|DCLK1_ENST00000379893.1_Silent_p.Y246Y			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	553	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTGGAGCCACGTATGTTGGGG	0.478													G|||	2	0.000399361	0.0	0.0	5008	,	,		16385	0.002		0.0	False		,,,				2504	0.0					ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(1657-1659)taC>taT		doublecortin-like kinase 1		G	,,	0,4406		0,0,2203	178.0	176.0	177.0		738,738,1659	-6.4	0.2	13	dbSNP_134	177	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	DCLK1	NM_001195415.1,NM_001195416.1,NM_004734.4	,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,,	246/423,246/434,553/730	36385001	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36385001G>A	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1659C>T	13.37:g.36385001G>A						DCLK1_ENST00000379893.1_Silent_p.Y246Y|DCLK1_ENST00000360631.3_Silent_p.Y553Y	p.Y553Y	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	12	1870	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	553			Protein kinase.		B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	ENST00000360631.3	37	c.1659C>T																																																																																					0.478	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		4	174	0	0	0	1	0	4	174				
AHNAK2	113146	broad.mit.edu	37	14	105416378	105416378	+	Missense_Mutation	SNP	G	G	A	rs373634735		TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr14:105416378G>A	ENST00000333244.5	-	7	5529	c.5410C>T	c.(5410-5412)Cgg>Tgg	p.R1804W	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1804						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)			CCCTCCAGCCGCACACTGTCC	0.622																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(5410-5412)Cgg>Tgg		AHNAK nucleoprotein 2		G	TRP/ARG	1,4013		0,1,2006	146.0	174.0	165.0		5410	-4.1	0.0	14		165	0,8296		0,0,4148	no	missense	AHNAK2	NM_138420.2	101	0,1,6154	AA,AG,GG		0.0,0.0249,0.0081	probably-damaging	1804/5796	105416378	1,12309	2007	4148	6155	SO:0001583	missense	113146					nucleus		g.chr14:105416378G>A	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.5410C>T	14.37:g.105416378G>A	ENSP00000353114:p.Arg1804Trp					AHNAK2_ENST00000557457.1_Intron	p.R1804W	NM_138420.2	NP_612429.2	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)		7	5529	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1804					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.5410C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	12.97	2.097490	0.37048	2.49E-4	0.0	ENSG00000185567	ENST00000333244	T	0.00737	5.76	2.02	-4.05	0.03998	.	.	.	.	.	T	0.00637	0.0021	L	0.44542	1.39	0.09310	N	1	D	0.54772	0.968	B	0.33042	0.157	T	0.50372	-0.8836	9	0.66056	D	0.02	.	6.3633	0.21441	0.0:0.0:0.544:0.456	.	1804	Q8IVF2	AHNK2_HUMAN	W	1804	ENSP00000353114:R1804W	ENSP00000353114:R1804W	R	-	1	2	AHNAK2	104487423	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.288000	0.09051	0.456000	0.33151	CGG		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		5	444	0	0	0	1	0	5	444				
FOXP1	27086	broad.mit.edu	37	3	71096155	71096155	+	Missense_Mutation	SNP	C	C	T			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr3:71096155C>T	ENST00000318789.4	-	10	1127	c.602G>A	c.(601-603)cGc>cAc	p.R201H	FOXP1_ENST00000493089.1_Missense_Mutation_p.R201H|FOXP1_ENST00000498215.1_Missense_Mutation_p.R201H|FOXP1_ENST00000484350.1_Missense_Mutation_p.R125H|FOXP1_ENST00000468577.1_Missense_Mutation_p.R201H|FOXP1_ENST00000491238.1_Missense_Mutation_p.R203H|FOXP1_ENST00000475937.1_Missense_Mutation_p.R201H|FOXP1_ENST00000472382.1_5'UTR	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	201	Gln-rich.				negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		AAGGCCTTGGCGCTGCAAAGA	0.527			T	PAX5	ALL																																	ENST00000318789.4				Dom	yes		3	3p14.1	27086	T	forkhead box P1			L	PAX5		ALL		0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						c.(601-603)cGc>cAc		forkhead box P1							144.0	145.0	144.0					3																	71096155		2203	4300	6503	SO:0001583	missense	27086				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr3:71096155C>T	AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.602G>A	3.37:g.71096155C>T	ENSP00000318902:p.Arg201His					FOXP1_ENST00000498215.1_Missense_Mutation_p.R201H|FOXP1_ENST00000475937.1_Missense_Mutation_p.R201H|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000468577.1_Missense_Mutation_p.R201H|FOXP1_ENST00000491238.1_Missense_Mutation_p.R203H|FOXP1_ENST00000484350.1_Missense_Mutation_p.R125H|FOXP1_ENST00000493089.1_Missense_Mutation_p.R201H	p.R201H	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)	10	1127	-		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)	201			Gln-rich.		A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	ENST00000318789.4	37	c.602G>A	CCDS2914.1	.	.	.	.	.	.	.	.	.	.	C	34	5.384614	0.95967	.	.	ENSG00000114861	ENST00000318789;ENST00000318796;ENST00000475937;ENST00000339693;ENST00000497355;ENST00000491238;ENST00000493089;ENST00000498215;ENST00000484350;ENST00000468577;ENST00000485326;ENST00000497553	T;T;T;T;T;T;T;T;T;T	0.44482	1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;1.49;0.92	6.03	6.03	0.97812	.	0.236203	0.49916	D	0.000132	T	0.66674	0.2813	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.998;0.998	D;D;D;D	0.77004	0.989;0.984;0.964;0.964	T	0.64364	-0.6425	10	0.52906	T	0.07	.	20.5666	0.99351	0.0:1.0:0.0:0.0	.	200;201;125;201	A3KMG1;G5E9V8;Q8NAN6;Q9H334	.;.;.;FOXP1_HUMAN	H	201;101;201;201;97;203;201;201;125;201;101;101	ENSP00000318902:R201H;ENSP00000419393:R201H;ENSP00000418225:R97H;ENSP00000420736:R203H;ENSP00000418524:R201H;ENSP00000418102:R201H;ENSP00000417857:R125H;ENSP00000418883:R201H;ENSP00000417941:R101H;ENSP00000418784:R101H	ENSP00000318902:R201H	R	-	2	0	FOXP1	71178845	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.057000	0.76669	2.854000	0.98071	0.655000	0.94253	CGC		0.527	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352250.1	NM_032682		4	184	0	0	0	1	0	4	184				
NT5C3A	51251	broad.mit.edu	37	7	33057052	33057052	+	Splice_Site	SNP	G	G	A			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr7:33057052G>A	ENST00000242210.7	-	7	783	c.707C>T	c.(706-708)aCt>aTt	p.T236I	NT5C3A_ENST00000405342.1_Splice_Site_p.T197I|AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000409467.1_Splice_Site_p.T185I|NT5C3A_ENST00000610140.1_Splice_Site_p.T231I|NT5C3A_ENST00000381626.2_Splice_Site_p.T185I|NT5C3A_ENST00000409787.1_Missense_Mutation_p.T197I|NT5C3A_ENST00000396152.2_Splice_Site_p.T197I	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	236					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										TATTCTTACAGTTTCATCAAA	0.294																																						ENST00000409787.1																			0											c.(589-591)aCt>aTt		5'-nucleotidase, cytosolic IIIA							54.0	52.0	53.0					7																	33057052		2203	4300	6503	SO:0001630	splice_region_variant	51251							g.chr7:33057052G>A	AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"""lupin"""	606224	"""5'-nucleotidase, cytosolic III"""	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.708+1C>T	7.37:g.33057052G>A						NT5C3A_ENST00000405342.1_Splice_Site_p.T197_splice|NT5C3A_ENST00000396152.2_Splice_Site_p.T197_splice|NT5C3A_ENST00000381626.2_Splice_Site_p.T185_splice|NT5C3A_ENST00000409467.1_Splice_Site_p.T185_splice|NT5C3A_ENST00000242210.7_Splice_Site_p.T236_splice|AVL9_ENST00000404479.1_Intron	p.T197I							7	603	-								A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Missense_Mutation	SNP	ENST00000242210.7	37	c.590C>T	CCDS34616.1	.	.	.	.	.	.	.	.	.	.	G	12.72	2.021096	0.35701	.	.	ENSG00000122643	ENST00000381626;ENST00000396152;ENST00000242210;ENST00000405342;ENST00000409467;ENST00000409787	D;D;D;D;D;D	0.83837	-1.77;-1.77;-1.77;-1.77;-1.77;-1.77	5.15	4.0	0.46444	HAD-like domain (2);	0.099979	0.64402	D	0.000003	T	0.78483	0.4290	L	0.29908	0.895	0.09310	N	0.999993	P;B	0.43477	0.808;0.268	P;B	0.46362	0.514;0.103	T	0.71189	-0.4666	10	0.72032	D	0.01	.	12.0457	0.53479	0.0:0.0:0.1513:0.8487	.	236;197	Q9H0P0;Q9H0P0-1	5NT3_HUMAN;.	I	185;197;236;197;185;197	ENSP00000371039:T185I;ENSP00000379456:T197I;ENSP00000242210:T236I;ENSP00000385261:T197I;ENSP00000387166:T185I;ENSP00000387205:T197I	ENSP00000242210:T236I	T	-	2	0	NT5C3	33023577	0.247000	0.23920	0.996000	0.52242	0.928000	0.56348	0.794000	0.26958	0.812000	0.34326	-0.262000	0.10625	ACT		0.294	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328880.1	NM_016489	Missense_Mutation	26	42	0	0	0	1	0	26	42				
CDH16	1014	broad.mit.edu	37	16	66942312	66942312	+	Silent	SNP	G	G	A			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr16:66942312G>A	ENST00000299752.4	-	18	2666	c.2473C>T	c.(2473-2475)Ctg>Ttg	p.L825L	CDH16_ENST00000570262.1_Silent_p.L745L|CDH16_ENST00000565796.1_Silent_p.L786L|CDH16_ENST00000394055.3_Silent_p.L803L|CDH16_ENST00000568632.1_Silent_p.L728L	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	825					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GTCGCCTTCAGGGGCACGCTG	0.592																																						ENST00000299752.4																			0				endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						c.(2473-2475)Ctg>Ttg		cadherin 16, KSP-cadherin							90.0	87.0	88.0					16																	66942312		2200	4300	6500	SO:0001819	synonymous_variant	1014				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:66942312G>A	AF016272	CCDS10823.1, CCDS56002.1, CCDS58471.1, CCDS58472.1	16q22.1	2010-01-26			ENSG00000166589	ENSG00000166589		"""Cadherins / Major cadherins"""	1755	protein-coding gene	gene with protein product		603118				9721215, 7615566	Standard	NM_004062		Approved		uc002eql.3	O75309	OTTHUMG00000137518	ENST00000299752.4:c.2473C>T	16.37:g.66942312G>A						CDH16_ENST00000568632.1_Silent_p.L728L|CDH16_ENST00000565796.1_Silent_p.L786L|CDH16_ENST00000570262.1_Silent_p.L745L|CDH16_ENST00000394055.3_Silent_p.L803L	p.L825L	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)	18	2666	-		Ovarian(137;0.0563)	825					B4DPA8|H3BPD3|Q6UW93	Silent	SNP	ENST00000299752.4	37	c.2473C>T	CCDS10823.1																																																																																				0.592	CDH16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268839.2	NM_004062		14	44	0	0	0	1	0	14	44				
SMG8	55181	broad.mit.edu	37	17	57288930	57288930	+	Missense_Mutation	SNP	G	G	T	rs142667389		TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr17:57288930G>T	ENST00000543872.2	+	2	1782	c.1518G>T	c.(1516-1518)atG>atT	p.M506I	SMG8_ENST00000580498.1_Intron|SMG8_ENST00000578922.1_Missense_Mutation_p.M506I|SMG8_ENST00000300917.5_Missense_Mutation_p.M506I|CTD-2510F5.6_ENST00000577660.1_Intron			Q8ND04	SMG8_HUMAN	SMG8 nonsense mediated mRNA decay factor	506					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of protein kinase activity (GO:0045859)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						CTTTACCCATGGCCCACAGTG	0.398																																						ENST00000543872.2																			0				NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						c.(1516-1518)atG>atT		SMG8 nonsense mediated mRNA decay factor							84.0	77.0	79.0					17																	57288930		2203	4300	6503	SO:0001583	missense	55181				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding	g.chr17:57288930G>T	AL834490	CCDS11615.1	17q23.2	2013-07-02	2013-07-02	2011-06-21					25551	protein-coding gene	gene with protein product		613175	"""chromosome 17 open reading frame 71"", ""smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf71		19417104	Standard	NM_018149		Approved	FLJ10587, FLJ23205	uc002ixi.3	Q8ND04		ENST00000543872.2:c.1518G>T	17.37:g.57288930G>T	ENSP00000438748:p.Met506Ile					SMG8_ENST00000578922.1_Missense_Mutation_p.M506I|SMG8_ENST00000300917.5_Missense_Mutation_p.M506I|CTD-2510F5.6_ENST00000577660.1_Intron|SMG8_ENST00000580498.1_Intron	p.M506I			Q8ND04	SMG8_HUMAN			2	1782	+			506					Q8N5U5|Q8TDN0|Q9H5P5|Q9NVQ1	Missense_Mutation	SNP	ENST00000543872.2	37	c.1518G>T	CCDS11615.1	.	.	.	.	.	.	.	.	.	.	G	14.85	2.659686	0.47572	.	.	ENSG00000167447	ENST00000300917;ENST00000543872	T;T	0.41400	1.0;1.0	5.75	5.75	0.90469	.	0.039411	0.85682	D	0.000000	T	0.36386	0.0965	L	0.36672	1.1	0.80722	D	1	B	0.26547	0.152	B	0.23716	0.048	T	0.08086	-1.0739	10	0.22706	T	0.39	-13.6981	18.9389	0.92597	0.0:0.0:1.0:0.0	.	506	Q8ND04	SMG8_HUMAN	I	506	ENSP00000300917:M506I;ENSP00000438748:M506I	ENSP00000300917:M506I	M	+	3	0	SMG8	54643712	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.899000	0.87370	2.705000	0.92388	0.655000	0.94253	ATG		0.398	SMG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445960.2	NM_018149		25	61	1	0	3.6726e-16	1	3.90214e-16	25	61				
ATG4D	84971	broad.mit.edu	37	19	10665833	10665833	+	IGR	SNP	G	G	A			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr19:10665833G>A	ENST00000309469.4	+	0	1949				KRI1_ENST00000312962.6_Missense_Mutation_p.R577W|KRI1_ENST00000361821.5_Missense_Mutation_p.R573W|MIR1238_ENST00000408483.1_RNA	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase						apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CTGTACGCCCGCTTGTCCCGC	0.632																																						ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(1729-1731)Cgg>Tgg		KRI1 homolog (S. cerevisiae)							80.0	80.0	80.0					19																	10665833		2203	4300	6503	SO:0001628	intergenic_variant	65095							g.chr19:10665833G>A	AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582		19.37:g.10665833G>A						KRI1_ENST00000361821.5_Missense_Mutation_p.R573W	p.R577W	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		18	1748	-			577					Q969K0	Missense_Mutation	SNP	ENST00000309469.4	37	c.1729C>T	CCDS12241.1	.	.	.	.	.	.	.	.	.	.	G	17.69	3.450976	0.63290	.	.	ENSG00000129347	ENST00000312962;ENST00000361821	T;T	0.10192	3.08;2.9	5.12	0.27	0.15635	Kri1-like, C-terminal (1);	0.172840	0.45126	D	0.000399	T	0.23926	0.0579	L	0.52573	1.65	0.37456	D	0.915024	D;D	0.89917	1.0;1.0	D;D	0.70935	0.971;0.971	T	0.01405	-1.1363	10	0.87932	D	0	-39.3169	13.7973	0.63180	0.0:0.0:0.5408:0.4592	.	577;573	Q8N9T8;D3YTE0	KRI1_HUMAN;.	W	577;573	ENSP00000320917:R577W;ENSP00000355366:R573W	ENSP00000320917:R577W	R	-	1	2	KRI1	10526833	0.243000	0.23878	0.881000	0.34555	0.780000	0.44128	0.030000	0.13688	-0.230000	0.09840	-0.457000	0.05445	CGG		0.632	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452022.1	NM_032885		4	99	0	0	0	1	0	4	99				
IP6K1	9807	broad.mit.edu	37	3	49775711	49775711	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr3:49775711T>C	ENST00000321599.4	-	3	669	c.368A>G	c.(367-369)cAc>cGc	p.H123R	IP6K1_ENST00000460540.1_5'UTR|IP6K1_ENST00000468463.1_Missense_Mutation_p.H123R|IP6K1_ENST00000395238.1_5'UTR	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	123					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol phosphorylation (GO:0046854)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						GCCTGACCGGTGCAGGCTCCG	0.552																																						ENST00000321599.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						c.(367-369)cAc>cGc		inositol hexakisphosphate kinase 1							133.0	109.0	117.0					3																	49775711		2203	4300	6503	SO:0001583	missense	9807				phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity	g.chr3:49775711T>C	D87452	CCDS33760.1, CCDS43092.1	3p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000176095	ENSG00000176095			18360	protein-coding gene	gene with protein product		606991	"""inositol hexaphosphate kinase 1"""	IHPK1			Standard	NM_001242829		Approved	KIAA0263	uc003cxm.1	Q92551	OTTHUMG00000158197	ENST00000321599.4:c.368A>G	3.37:g.49775711T>C	ENSP00000323780:p.His123Arg					IP6K1_ENST00000460540.1_5'UTR|IP6K1_ENST00000468463.1_Missense_Mutation_p.H123R|IP6K1_ENST00000395238.1_5'UTR	p.H123R	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN			3	669	-			123					A8K157|A8MUX4|Q7L3I7|Q96E38	Missense_Mutation	SNP	ENST00000321599.4	37	c.368A>G	CCDS33760.1	.	.	.	.	.	.	.	.	.	.	T	13.81	2.348738	0.41599	.	.	ENSG00000176095	ENST00000321599;ENST00000468463	T;T	0.46451	0.87;0.87	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.35508	0.0934	L	0.40543	1.245	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.14337	-1.0476	10	0.16420	T	0.52	-26.9251	16.3756	0.83387	0.0:0.0:0.0:1.0	.	123;123	C9JNA8;Q92551	.;IP6K1_HUMAN	R	123	ENSP00000323780:H123R;ENSP00000420467:H123R	ENSP00000323780:H123R	H	-	2	0	IP6K1	49750715	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.821000	0.69257	2.270000	0.75569	0.460000	0.39030	CAC		0.552	IP6K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350380.1	NM_153273		4	55	0	0	0	1	0	4	55				
ERCC3	2071	broad.mit.edu	37	2	128050376	128050376	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr2:128050376T>C	ENST00000285398.2	-	3	375	c.281A>G	c.(280-282)aAa>aGa	p.K94R	ERCC3_ENST00000493187.2_Missense_Mutation_p.K30R	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	94					7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		TTGGGCATATTTGTAAACTGG	0.473			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000493187.2			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""Mis, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(88-90)aAa>aGa	Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 3							77.0	73.0	74.0					2																	128050376		2203	4300	6503	SO:0001583	missense	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128050376T>C	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.281A>G	2.37:g.128050376T>C	ENSP00000285398:p.Lys94Arg					ERCC3_ENST00000285398.2_Missense_Mutation_p.K94R	p.K30R			P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	3	552	-	Colorectal(110;0.1)		94					Q53QM0	Missense_Mutation	SNP	ENST00000285398.2	37	c.89A>G	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.850666	0.51270	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.72394	-0.65;-0.65	4.77	3.61	0.41365	.	0.051485	0.85682	N	0.000000	T	0.69296	0.3095	M	0.73962	2.25	0.80722	D	1	B	0.09022	0.002	B	0.23852	0.049	T	0.66260	-0.5968	10	0.48119	T	0.1	-16.4107	10.443	0.44477	0.0:0.0769:0.0:0.9231	.	94	P19447	ERCC3_HUMAN	R	94;30	ENSP00000285398:K94R;ENSP00000444796:K30R	ENSP00000285398:K94R	K	-	2	0	ERCC3	127766846	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.028000	0.64115	0.846000	0.35142	-0.297000	0.09499	AAA		0.473	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		17	43	0	0	0	1	0	17	43				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	284802							g.chr20:29628243T>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	110	0	0	0	1	0	4	110				
ZNF709	163051	broad.mit.edu	37	19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			2	Substitution - Missense(2)	p.T413I(2)	kidney(1)|skin(1)	large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1237-1239)aCt>aTt		zinc finger protein 709							106.0	111.0	109.0					19																	12575498		2202	4299	6501	SO:0001583	missense	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575498G>A	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1238C>T	19.37:g.12575498G>A	ENSP00000380840:p.Thr413Ile					ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN			4	1409	-			413					A8K4E6	Missense_Mutation	SNP	ENST00000397732.3	37	c.1238C>T	CCDS42504.1	.	.	.	.	.	.	.	.	.	.	G	0.031	-1.333208	0.01298	.	.	ENSG00000242852;ENSG00000196826	ENST00000397732;ENST00000428311	T;T	0.06142	3.34;3.34	3.05	-3.79	0.04320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.35067	N	0.003471	T	0.01976	0.0062	N	0.11000	0.08	0.09310	N	1	B	0.28258	0.205	B	0.25884	0.064	T	0.43814	-0.9368	10	0.02654	T	1	.	5.8441	0.18652	0.2644:0.3999:0.3357:0.0	.	413	Q8N972	ZN709_HUMAN	I	413	ENSP00000380840:T413I;ENSP00000404127:T413I	ENSP00000404127:T413I	T	-	2	0	ZNF709;CTD-2192J16.17	12436498	0.000000	0.05858	0.002000	0.10522	0.972000	0.66771	-2.485000	0.00979	-0.610000	0.05716	0.591000	0.81541	ACT		0.418	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		5	150	0	0	0	1	0	5	150				
SIGLEC6	946	broad.mit.edu	37	19	52033997	52033997	+	Missense_Mutation	SNP	C	C	G			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr19:52033997C>G	ENST00000425629.3	-	3	798	c.644G>C	c.(643-645)tGt>tCt	p.C215S	SIGLEC6_ENST00000391797.3_Missense_Mutation_p.C204S|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.C215S|SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.C215S|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.C179S|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.C215S	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	215	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		CGTCACCTGACAGGTGAGGTT	0.652																																						ENST00000346477.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(643-645)tGt>tCt		sialic acid binding Ig-like lectin 6							61.0	68.0	66.0					19																	52033997		2202	4300	6502	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52033997C>G	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.644G>C	19.37:g.52033997C>G	ENSP00000401502:p.Cys215Ser					SIGLEC6_ENST00000425629.3_Missense_Mutation_p.C215S|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.C204S|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.C215S|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.C215S|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.C179S	p.C215S	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	3	712	-		all_neural(266;0.0199)	215			Ig-like C2-type 1.		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.644G>C	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	C	13.51	2.258855	0.39896	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300	T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3	3.47	3.47	0.39725	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.40469	N	0.001088	D	0.90335	0.6976	M	0.91561	3.22	0.37284	D	0.907947	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.92822	0.6273	10	0.87932	D	0	.	10.6184	0.45465	0.0:1.0:0.0:0.0	.	215;179;204;215;215;215	F8WA78;C9JBE5;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;SIGL6_HUMAN	S	204;215;215;215;179;215	ENSP00000401502:C215S;ENSP00000353071:C215S;ENSP00000410679:C179S;ENSP00000345907:C215S	ENSP00000345907:C215S	C	-	2	0	SIGLEC6	56725809	0.961000	0.32948	0.718000	0.30602	0.234000	0.25298	2.685000	0.46959	1.945000	0.56424	0.462000	0.41574	TGT		0.652	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		15	34	0	0	0	1	0	15	34				
EPB42	2038	broad.mit.edu	37	15	43512971	43512971	+	Intron	SNP	G	G	A			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr15:43512971G>A	ENST00000441366.2	-	1	236				EPB42_ENST00000300215.3_Missense_Mutation_p.A18V|EPB42_ENST00000540029.1_Intron	NM_000119.2|NM_001114134.1	NP_000110.2|NP_001107606.1	P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2						cell morphogenesis (GO:0000902)|erythrocyte maturation (GO:0043249)|hemoglobin metabolic process (GO:0020027)|iron ion homeostasis (GO:0055072)|peptide cross-linking (GO:0018149)|regulation of cell shape (GO:0008360)|spleen development (GO:0048536)	cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGCGGGGGCTGCATACAGTCC	0.582																																						ENST00000300215.3																			0				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(52-54)gCa>gTa		erythrocyte membrane protein band 4.2							132.0	128.0	129.0					15																	43512971		2203	4299	6502	SO:0001627	intron_variant	2038				erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	g.chr15:43512971G>A	M60298	CCDS10093.1, CCDS45249.1	15q15-q21	2013-05-02			ENSG00000166947	ENSG00000166947		"""Transglutaminases"""	3381	protein-coding gene	gene with protein product	"""Erythrocyte surface protein band 4.2"""	177070				1284644	Standard	NM_000119		Approved	PA, MGC116735, MGC116737	uc001zrb.4	P16452	OTTHUMG00000130701	ENST00000441366.2:c.10+42C>T	15.37:g.43512971G>A						EPB42_ENST00000441366.2_Intron|EPB42_ENST00000540029.1_Intron	p.A18V			P16452	EPB42_HUMAN		GBM - Glioblastoma multiforme(94;8.7e-07)	1	510	-		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	0					Q4KKX0|Q4VB97	Missense_Mutation	SNP	ENST00000441366.2	37	c.53C>T	CCDS45249.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.856159	0.51376	.	.	ENSG00000166947	ENST00000300215	D	0.85955	-2.05	3.5	2.37	0.29283	.	10.230900	0.00166	N	0.000007	T	0.67869	0.2939	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.62854	-0.6766	9	0.05959	T	0.93	-0.1817	5.0058	0.14288	0.8515:0.0:0.1485:0.0	.	18	P16452-2	.	V	18	ENSP00000300215:A18V	ENSP00000300215:A18V	A	-	2	0	EPB42	41300263	0.004000	0.15560	0.005000	0.12908	0.006000	0.05464	0.829000	0.27449	0.546000	0.28920	-0.379000	0.06801	GCA		0.582	EPB42-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432219.1	NM_000119		4	153	0	0	0	1	0	4	153				
MUC17	140453	broad.mit.edu	37	7	100683180	100683180	+	Missense_Mutation	SNP	G	G	A			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr7:100683180G>A	ENST00000306151.4	+	3	8547	c.8483G>A	c.(8482-8484)gGc>gAc	p.G2828D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2828	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTGAGGCTGGCACCCTTTCA	0.498																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(8482-8484)gGc>gAc		mucin 17, cell surface associated							242.0	250.0	247.0					7																	100683180		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100683180G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.8483G>A	7.37:g.100683180G>A	ENSP00000302716:p.Gly2828Asp						p.G2828D	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	8547	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2828			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.8483G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	5.098	0.203649	0.09704	.	.	ENSG00000169876	ENST00000306151	T	0.03580	3.88	0.911	-0.0885	0.13673	.	.	.	.	.	T	0.05593	0.0147	N	0.19112	0.55	0.09310	N	1	D	0.76494	0.999	D	0.68621	0.959	T	0.42515	-0.9447	9	0.27082	T	0.32	.	3.9399	0.09323	0.4823:0.0:0.5177:0.0	.	2828	Q685J3	MUC17_HUMAN	D	2828	ENSP00000302716:G2828D	ENSP00000302716:G2828D	G	+	2	0	MUC17	100469900	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.278000	0.08490	-0.037000	0.13646	0.134000	0.15878	GGC		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		5	388	0	0	0	1	0	5	388				
SORBS2	8470	broad.mit.edu	37	4	186544636	186544636	+	Silent	SNP	G	G	A	rs267600109		TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr4:186544636G>A	ENST00000284776.7	-	13	2444	c.1935C>T	c.(1933-1935)caC>caT	p.H645H	SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000355634.5_Silent_p.H745H|SORBS2_ENST00000431808.1_Silent_p.H645H|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Silent_p.H549H|SORBS2_ENST00000449407.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	645	His-rich.				actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.H645H(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ggtggtggtggtgatggtggt	0.527																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			1	Substitution - coding silent(1)	p.H645H(1)	endometrium(1)	endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(1933-1935)caC>caT		sorbin and SH3 domain containing 2							54.0	54.0	54.0					4																	186544636		2202	4300	6502	SO:0001819	synonymous_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544636G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.1935C>T	4.37:g.186544636G>A						SORBS2_ENST00000355634.5_Silent_p.H745H|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Silent_p.H549H|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000284776.7_Silent_p.H645H|SORBS2_ENST00000498125.1_Intron	p.H645H			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2498	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	645			His-rich.		A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Silent	SNP	ENST00000284776.7	37	c.1935C>T	CCDS3845.1																																																																																				0.527	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		4	63	0	0	0	1	0	4	63				
SLC35G3	146861	broad.mit.edu	37	17	33520358	33520358	+	Silent	SNP	A	A	G	rs74740601		TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr17:33520358A>G	ENST00000297307.5	-	1	1054	c.969T>C	c.(967-969)atT>atC	p.I323I	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	323	EamA 2.					integral component of membrane (GO:0016021)		p.I323I(1)									TCTGGGCTGTAATGATGGCAA	0.547																																						ENST00000297307.5																			1	Substitution - coding silent(1)	p.I323I(1)	lung(1)								c.(967-969)atT>atC		solute carrier family 35, member G3																																				SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33520358A>G	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.969T>C	17.37:g.33520358A>G							p.I323I	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1054	-			323			DUF6 2.		B9EGE9	Silent	SNP	ENST00000297307.5	37	c.969T>C	CCDS11293.1																																																																																				0.547	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		4	64	0	0	0	1	0	4	64				
IGKV1D-16	28901	broad.mit.edu	37	2	90139477	90139477	+	RNA	SNP	G	G	A	rs2848291		TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr2:90139477G>A	ENST00000492446.1	+	0	275									immunoglobulin kappa variable 1D-16																		GTCCCATCAAGGTTCAGCGGC	0.483																																						ENST00000492446.1																			0																				95.0	98.0	97.0					2																	90139477		1847	4084	5931			28901							g.chr2:90139477G>A	K01323		2p11.2	2012-02-08			ENSG00000241244	ENSG00000241244		"""Immunoglobulins / IGK locus"""	5748	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151569		2.37:g.90139477G>A														0	275	+									RNA	SNP	ENST00000492446.1	37																																																																																						0.483	IGKV1D-16-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323144.2	NG_000833		4	178	0	0	0	1	0	4	178				
FOXP2	93986	broad.mit.edu	37	7	114269973	114269973	+	Silent	SNP	A	A	G	rs576887296|rs398124272	byFrequency	TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr7:114269973A>G	ENST00000393494.2	+	5	789	c.510A>G	c.(508-510)caA>caG	p.Q170Q	FOXP2_ENST00000393500.3_Silent_p.Q95Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q195Q(1)	kidney(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(283-285)caA>caG		forkhead box P2							37.0	35.0	35.0					7																	114269973		2203	4294	6497	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114269973A>G	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.510A>G	7.37:g.114269973A>G						FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|AC020606.1_ENST00000580664.1_RNA	p.Q95Q			O15409	FOXP2_HUMAN			11	1105	+			170			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.285A>G	CCDS5760.1																																																																																				0.502	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		4	68	0	0	0	1	0	4	68				
IL21	59067	broad.mit.edu	37	4	123542015	123542015	+	Missense_Mutation	SNP	T	T	G			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr4:123542015T>G	ENST00000264497.3	-	1	209	c.152A>C	c.(151-153)aAt>aCt	p.N51T	IL21-AS1_ENST00000417927.1_RNA	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	44					cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						ATTCACATAATTTTTCAGCTG	0.338																																						ENST00000264497.3																			0				NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						c.(151-153)aAt>aCt		interleukin 21							106.0	105.0	105.0					4																	123542015		2203	4300	6503	SO:0001583	missense	59067				cell maturation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-17 production|positive regulation of T cell proliferation|signal transduction	extracellular space	cytokine activity|interleukin-2 receptor binding	g.chr4:123542015T>G	AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684		"""Interleukins and interleukin receptors"""	6005	protein-coding gene	gene with protein product		605384				11081504, 17947662	Standard	NM_001207006		Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.152A>C	4.37:g.123542015T>G	ENSP00000264497:p.Asn51Thr					IL21-AS1_ENST00000417927.1_RNA	p.N51T	NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN			1	209	-			44					A5J0L4	Missense_Mutation	SNP	ENST00000264497.3	37	c.152A>C	CCDS3727.1	.	.	.	.	.	.	.	.	.	.	T	9.370	1.070280	0.20147	.	.	ENSG00000138684	ENST00000264497	.	.	.	5.63	-0.0293	0.13918	.	0.576020	0.16688	N	0.203643	T	0.27765	0.0683	L	0.51422	1.61	0.20638	N	0.999876	B;B	0.06786	0.001;0.001	B;B	0.12837	0.005;0.008	T	0.13899	-1.0492	9	0.18710	T	0.47	-0.0805	2.7492	0.05275	0.1146:0.1923:0.1121:0.581	.	44;44	Q9HBE4-2;Q9HBE4	.;IL21_HUMAN	T	51	.	ENSP00000264497:N51T	N	-	2	0	IL21	123761465	0.005000	0.15991	0.996000	0.52242	0.992000	0.81027	0.041000	0.13927	0.364000	0.24374	0.533000	0.62120	AAT		0.338	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256713.1	NM_021803		36	47	0	0	0	1	0	36	47				
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		5	Substitution - coding silent(5)	p.S168S(5)	lung(2)|urinary_tract(1)|endometrium(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(502-504)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							9.0	16.0	13.0					9																	20414340		1646	3412	5058	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414340G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.504C>T	9.37:g.20414340G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S	p.S168S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	790	-			168			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.504C>T	CCDS6494.1																																																																																				0.537	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	64	0	0	0	1	0	4	64				
LRRN1	57633	broad.mit.edu	37	3	3888472	3888472	+	Missense_Mutation	SNP	G	G	T			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr3:3888472G>T	ENST00000319331.3	+	2	2908	c.2147G>T	c.(2146-2148)tGg>tTg	p.W716L	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	716						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TATTACATGTGGTAACTCAGA	0.423																																						ENST00000319331.3																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26						c.(2146-2148)tGg>tTg		leucine rich repeat neuronal 1							49.0	52.0	51.0					3																	3888472		2203	4300	6503	SO:0001583	missense	57633					integral to membrane		g.chr3:3888472G>T	AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.2147G>T	3.37:g.3888472G>T	ENSP00000314901:p.Trp716Leu					SUMF1_ENST00000534863.1_Intron	p.W716L	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN		Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)	2	2908	+			716					Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	ENST00000319331.3	37	c.2147G>T	CCDS33685.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380575	0.61845	.	.	ENSG00000175928	ENST00000319331	T	0.59083	0.29	5.9	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.73210	0.3558	M	0.62723	1.935	0.53688	D	0.999977	D	0.89917	1.0	D	0.83275	0.996	T	0.75184	-0.3407	10	0.87932	D	0	.	15.4639	0.75384	0.0672:0.0:0.9328:0.0	.	716	Q6UXK5	LRRN1_HUMAN	L	716	ENSP00000314901:W716L	ENSP00000314901:W716L	W	+	2	0	LRRN1	3863472	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.934000	0.87649	2.788000	0.95919	0.650000	0.86243	TGG		0.423	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337704.2	NM_020873		4	23	1	0	0.00024832	1	0.00024832	4	23				
OBSCN	84033	broad.mit.edu	37	1	228526563	228526563	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr1:228526563delC	ENST00000422127.1	+	69	17138	c.17094delC	c.(17092-17094)atcfs	p.I5698fs	OBSCN_ENST00000284548.11_Frame_Shift_Del_p.I5698fs|OBSCN_ENST00000366707.4_Frame_Shift_Del_p.I3332fs|OBSCN_ENST00000366709.4_Frame_Shift_Del_p.I2817fs|OBSCN_ENST00000570156.2_Frame_Shift_Del_p.I6655fs	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5698	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCTCTGTGATCCAGGAGCTGC	0.672																																						ENST00000570156.2																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223						c.(19963-19965)atfs		obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF																																				SO:0001589	frameshift_variant	84033				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	g.chr1:228526563delC	AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.17094delC	1.37:g.228526563delC	ENSP00000409493:p.Ile5698fs					OBSCN_ENST00000422127.1_Frame_Shift_Del_p.I5698fs|OBSCN_ENST00000366707.4_Frame_Shift_Del_p.I3332fs|OBSCN_ENST00000284548.11_Frame_Shift_Del_p.I5698fs|OBSCN_ENST00000366709.4_Frame_Shift_Del_p.I2817fs	p.I6655fs	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN			80	20039	+		Prostate(94;0.0405)	5698			Protein kinase 1.		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Frame_Shift_Del	DEL	ENST00000422127.1	37	c.19965delC	CCDS58065.1																																																																																				0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_052843		2	4						2	4	---	---	---	---
LOC730100	730100	broad.mit.edu	37	2	51737448	51737452	+	lincRNA	DEL	AGGTA	AGGTA	-			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr2:51737448_51737452delAGGTA	ENST00000440698.1	+	0	694																											GTCCAAGGGTAGGTACCTGAGATGC	0.424																																						ENST00000440698.1																			0																																																			730100							g.chr2:51737448_51737452delAGGTA																													2.37:g.51737448_51737452delAGGTA														0	694	+									RNA	DEL	ENST00000440698.1	37																																																																																						0.424	AC007682.1-001	KNOWN	mRNA_start_NF|basic	lincRNA	lincRNA	OTTHUMT00000291399.3			2	4						2	4	---	---	---	---
HHATL	57467	broad.mit.edu	37	3	42741312	42741312	+	Frame_Shift_Del	DEL	C	C	-	rs369606015		TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr3:42741312delC	ENST00000441594.1	-	3	373	c.112delG	c.(112-114)gccfs	p.A38fs	HHATL-AS1_ENST00000600839.1_RNA|HHATL_ENST00000310417.5_Frame_Shift_Del_p.A38fs|HHATL-AS1_ENST00000423165.1_RNA	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	38					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		TTCCTGTGGGCCCCATCTGAG	0.662																																						ENST00000441594.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19						c.(112-114)ccfs		hedgehog acyltransferase-like							31.0	25.0	27.0					3																	42741312		2188	4273	6461	SO:0001589	frameshift_variant	57467				negative regulation of N-terminal protein palmitoylation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm		g.chr3:42741312delC	AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"""membrane bound O-acyltransferase domain containing 3"""	608116	"""chromosome 3 open reading frame 3"", ""GUP1, glycerol uptake/transporter homolog (yeast)"""	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.112delG	3.37:g.42741312delC	ENSP00000405423:p.Ala38fs					HHATL_ENST00000310417.5_Frame_Shift_Del_p.A38fs	p.A38fs	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.215)	3	373	-			38					Q8TBG3|Q9ULP7	Frame_Shift_Del	DEL	ENST00000441594.1	37	c.112delG	CCDS2704.1																																																																																				0.662	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1	NM_020707		2	4						2	4	---	---	---	---
GRIN1	2902	broad.mit.edu	37	9	140056433	140056433	+	Frame_Shift_Del	DEL	C	C	-			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr9:140056433delC	ENST00000371561.3	+	11	2622	c.1525delC	c.(1525-1527)cagfs	p.Q509fs	GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371555.4_Frame_Shift_Del_p.Q530fs|GRIN1_ENST00000371546.4_Frame_Shift_Del_p.Q530fs|GRIN1_ENST00000371553.3_Frame_Shift_Del_p.Q530fs|GRIN1_ENST00000315048.3_Frame_Shift_Del_p.Q509fs|GRIN1_ENST00000371559.4_Frame_Shift_Del_p.Q509fs|GRIN1_ENST00000371560.3_Frame_Shift_Del_p.Q530fs|GRIN1_ENST00000350902.5_Frame_Shift_Del_p.Q509fs|GRIN1_ENST00000371550.4_Frame_Shift_Del_p.Q509fs	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	509					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GCTCAGCGGGCAGGCAGACAT	0.592																																					NSCLC(113;717 1653 2089 20474 37618)	ENST00000371561.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1525-1527)agfs		glutamate receptor, ionotropic, N-methyl D-aspartate 1	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						41.0	33.0	36.0					9																	140056433		2178	4263	6441	SO:0001589	frameshift_variant	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140056433delC		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.1525delC	9.37:g.140056433delC	ENSP00000360616:p.Gln509fs					GRIN1_ENST00000371560.3_Frame_Shift_Del_p.Q530fs|GRIN1_ENST00000350902.5_Frame_Shift_Del_p.Q509fs|GRIN1_ENST00000315048.3_Frame_Shift_Del_p.Q509fs|GRIN1_ENST00000371550.4_Frame_Shift_Del_p.Q509fs|GRIN1_ENST00000371559.4_Frame_Shift_Del_p.Q509fs|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Frame_Shift_Del_p.Q530fs|GRIN1_ENST00000371555.4_Frame_Shift_Del_p.Q530fs|GRIN1_ENST00000371553.3_Frame_Shift_Del_p.Q530fs	p.Q509fs	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	11	2622	+	all_cancers(76;0.0926)		509					A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Frame_Shift_Del	DEL	ENST00000371561.3	37	c.1525delC	CCDS7031.1																																																																																				0.592	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		2	4						2	4	---	---	---	---
NUDT5	11164	broad.mit.edu	37	10	12211282	12211282	+	Intron	DEL	A	A	-			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr10:12211282delA	ENST00000491614.1	-	9	946				SEC61A2_ENST00000304267.8_Frame_Shift_Del_p.K424fs|NUDT5_ENST00000378952.3_Intron|NUDT5_ENST00000537776.1_Intron|SEC61A2_ENST00000495368.1_3'UTR|NUDT5_ENST00000378937.3_Intron			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5						D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				AAGAAGGTGGAAGGGAGAAGG	0.443																																						ENST00000304267.8																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(1270-1272)agfs		Sec61 alpha 2 subunit (S. cerevisiae)							58.0	48.0	51.0					10																	12211282		1556	3538	5094	SO:0001627	intron_variant	55176					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr10:12211282delA	AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"""Nudix motif containing"""	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.550+1433T>-	10.37:g.12211282delA						NUDT5_ENST00000491614.1_Intron|NUDT5_ENST00000378937.3_Intron|NUDT5_ENST00000537776.1_Intron|SEC61A2_ENST00000495368.1_3'UTR|NUDT5_ENST00000378952.3_Intron	p.K424fs	NM_001142627.1	NP_001136099.1	Q9H9S3	S61A2_HUMAN			12	1357	+		Renal(717;0.228)	0					A8K516|Q6IAG0|Q9UH49	Frame_Shift_Del	DEL	ENST00000491614.1	37	c.1270delA	CCDS7089.1																																																																																				0.443	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046811.1			2	4						2	4	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23312380	23312380	+	RNA	DEL	T	T	-			TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr15:23312380delT	ENST00000560464.1	-	0	3118									hect domain and RLD 2 pseudogene 2																		TGTTAttttcttttttttttt	0.398																																						ENST00000560464.1																			0																																																			400322							g.chr15:23312380delT	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23312380delT														0	3118	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.398	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			3	4						3	4	---	---	---	---
MVD	4597	broad.mit.edu	37	16	88721768	88721768	+	Frame_Shift_Del	DEL	C	C	-	rs541624153		TCGA-WB-A80N-01A-11D-A35I-08	TCGA-WB-A80N-10A-01D-A35G-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e276efa-a716-467d-9ef1-aeaae0a1e1af	9ad87214-6a8b-4246-a8b5-151dcef4fbd7	g.chr16:88721768delC	ENST00000301012.3	-	7	765	c.736delG	c.(736-738)gagfs	p.E246fs	MVD_ENST00000568709.1_5'Flank	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	246					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		AAGTCTCGCTCCCGGATGCAG	0.657																																						ENST00000301012.3																			0				endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12						c.(736-738)agfs		mevalonate (diphospho) decarboxylase							191.0	145.0	161.0					16																	88721768		2191	4295	6486	SO:0001589	frameshift_variant	4597				cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity	g.chr16:88721768delC	U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"""mevalonate pyrophosphate decarboxylase"""	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.736delG	16.37:g.88721768delC	ENSP00000301012:p.Glu246fs						p.E246fs	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	7	765	-			246					Q53Y65	Frame_Shift_Del	DEL	ENST00000301012.3	37	c.736delG	CCDS10968.1																																																																																				0.657	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269547.2	NM_002461		2	4						2	4	---	---	---	---
