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
TAS1R1	80835	broad.mit.edu	37	1	6631015	6631015	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:6631015C>T	uc001ant.3	+	1	334	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	TAS1R1_uc001anu.3_Missense_Mutation_p.R80W|TAS1R1_uc021ofp.1_Missense_Mutation_p.R2W	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	80					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CCAGGCTATGCGGCTTGGGGT	0.532												
RERE	473	broad.mit.edu	37	1	8419927	8419927	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:8419927C>T	uc001ape.3	-	19	4325	c.3515G>A	c.(3514-3516)cGc>cAc	p.R1172H	RERE_uc001apf.3_Missense_Mutation_p.R1172H|RERE_uc001apd.3_Missense_Mutation_p.R618H	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1172					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTCAGCCTCGCGCTTGGCCTT	0.662												
MIR34A	407040	broad.mit.edu	37	1	9211835	9211835	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:9211835C>T	uc009vmq.3	-	1	446	c.340G>A	c.(340-342)Gcc>Acc	p.A114T	mir-34_uc021ofw.1_Splice_Site					Homo sapiens microRNA mir-34.																		TCACAGCTGGCCGGTCCACGG	0.542												
HTR6	3362	broad.mit.edu	37	1	19992747	19992747	+	Silent	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:19992747C>T	uc001bcl.3	+	0	968	c.501C>T	c.(499-501)caC>caT	p.H167H		NM_000871	NP_000862	P50406	5HT6R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 6 (HTR6), mRNA.	167					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	TGGGCTGGCACGAGCTGGGCC	0.711												
RNF19B	127544	broad.mit.edu	37	1	33402782	33402782	+	Silent	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:33402782C>T	uc010oho.2	-	8	1824	c.1824G>A	c.(1822-1824)acG>acA	p.T608T	RNF19B_uc001bwm.4_3'UTR|RNF19B_uc010ohp.2_Silent_p.T607T	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	Homo sapiens ring finger protein 19B (RNF19B), transcript variant 1, mRNA.	608						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCGAGTCCTCCGTGCTGCTTC	0.502												
COL9A2	1298	broad.mit.edu	37	1	40770007	40770007	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:40770007G>A	uc001cfh.1	-	23	1384	c.1272C>T	c.(1270-1272)ggC>ggT	p.G424G	COL9A2_uc001cfi.1_Silent_p.G243G	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	424	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CTCCTTTGACGCCTGGCAAGC	0.607												
LRRC7	57554	broad.mit.edu	37	1	70504762	70504762	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:70504762G>C	uc001dep.3	+	18	3171	c.3141G>C	c.(3139-3141)agG>agC	p.R1047S	LRRC7_uc009wbg.3_Missense_Mutation_p.R331S|LRRC7_uc001deq.3_Missense_Mutation_p.R288S	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1047						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCGAAAAGAGGATACCACCCC	0.448												
PTGFR	5737	broad.mit.edu	37	1	78958623	78958623	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:78958623G>A	uc001din.3	+	1	461	c.195G>A	c.(193-195)tcG>tcA	p.S65S	PTGFR_uc001dim.3_Silent_p.S65S	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	65					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.S65S(3)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CCAAGGCATCGTTTCTGCTTT	0.423												
GBP4	115361	broad.mit.edu	37	1	89650937	89650937	+	Nonstop_Mutation	SNP	T	T	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:89650937T>A	uc001dnb.3	-	10	2039	c.1923A>T	c.(1921-1923)taA>taT	p.*641Y		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	Homo sapiens guanylate binding protein 4 (GBP4), mRNA.	0						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		ATTCAGGCTCTTAAATACGTG	0.343												
MAB21L3	126868	broad.mit.edu	37	1	116670945	116670945	+	Silent	SNP	G	G	A	rs148441950		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:116670945G>A	uc001egc.1	+	5	1105	c.840G>A	c.(838-840)acG>acA	p.T280T		NM_152367	NP_689580	Q8N8X9	MB213_HUMAN	Homo sapiens mab-21-like 3 (C. elegans) (MAB21L3), mRNA.	280										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						CGGTTATCACGTCCCACCATC	0.582												
NBPF10	400818	broad.mit.edu	37	1	144823890	144823890	+	Nonsense_Mutation	SNP	C	C	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:144823890C>G	uc009wig.1	+	15	2119	c.1925C>G	c.(1924-1926)tCa>tGa	p.S642*	NBPF10_uc010oxo.1_Intron|NBPF10_uc010oxn.1_Intron|NBPF10_uc021oth.1_Intron|NBPF10_uc021otj.1_Intron|NBPF10_uc021oto.1_Intron|NBPF10_uc021otr.1_Intron|NBPF10_uc021ots.1_Intron|NBPF10_uc021otv.1_Intron|NBPF10_uc001ekk.1_Intron|NBPF10_uc010oyd.1_Intron|NBPF10_uc010oye.2_Nonsense_Mutation_p.S445*|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|NBPF10_uc021ouf.1_Nonsense_Mutation_p.S304*	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	644										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TCAACTCCTTCAGGTTGTCTT	0.483												
FLG	2312	broad.mit.edu	37	1	152283564	152283564	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:152283564C>A	uc001ezu.1	-	2	3834	c.3798G>T	c.(3796-3798)caG>caT	p.Q1266H	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1266	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACTGGATCCCTGGTGCCTGC	0.562									Ichthyosis			
OR6N2	81442	broad.mit.edu	37	1	158746549	158746549	+	Missense_Mutation	SNP	G	G	A	rs144962739		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:158746549G>A	uc010pir.2	-	0	877	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TCCTTGTTACGAAGACTGTAG	0.418												
IGSF8	93185	broad.mit.edu	37	1	160064843	160064843	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:160064843G>A	uc001fva.3	-	1	303	c.258C>T	c.(256-258)ttC>ttT	p.F86F	IGSF8_uc001fuz.3_Silent_p.F86F|IGSF8_uc009wtf.3_Silent_p.F86F	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	Homo sapiens immunoglobulin superfamily, member 8 (IGSF8), transcript variant 1, mRNA.	86	Ig-like C2-type 1.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	p.Q85L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CAGCATAGGAGAACTGGGTAT	0.602												
SEC16B	89866	broad.mit.edu	37	1	177927423	177927423	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:177927423G>A	uc001glj.1	-	14	2078	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	SEC16B_uc001glk.1_Silent_p.P80P|SEC16B_uc001glh.1_Silent_p.P62P|SEC16B_uc001gli.1_Silent_p.P403P|SEC16B_uc009wwz.1_Silent_p.P62P|SEC16B_uc001gll.4_Silent_p.P404P	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	403					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TGGCCACAGGGGGCTGCCGCT	0.587												
GPATCH2	55105	broad.mit.edu	37	1	217688167	217688167	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:217688167T>C	uc001hlf.1	-	5	1259	c.1163A>G	c.(1162-1164)cAt>cGt	p.H388R		NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	Homo sapiens G patch domain containing 2 (GPATCH2), mRNA.	388						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TACTCACTCATGGTGATGAGA	0.353												
NVL	4931	broad.mit.edu	37	1	224514105	224514105	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:224514105T>C	uc001hok.3	-	1	181	c.119A>G	c.(118-120)cAa>cGa	p.Q40R	NVL_uc001hol.3_Intron|NVL_uc010pvd.2_Missense_Mutation_p.Q40R|NVL_uc010pve.2_Intron|NVL_uc010pvf.2_Intron|NVL_uc010pvg.2_Missense_Mutation_p.Q40R	NM_002533	NP_002524	O15381	NVL_HUMAN	Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA.	40						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		GTACACTCTTTGTAAATCAGA	0.318												
OR4P4	81300	broad.mit.edu	37	11	55406513	55406513	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr11:55406513C>T	uc010rij.2	+	0	680	c.680C>T	c.(679-681)tCt>tTt	p.S227F		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S227F(2)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						AGAGCATACTCTGCAGAGAGA	0.393												
OR5D16	390144	broad.mit.edu	37	11	55606713	55606713	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr11:55606713G>A	uc010rio.2	+	0	486	c.486G>A	c.(484-486)gcG>gcA	p.A162A		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A162T(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGACACTCGCGTGCTCTGCTT	0.453												
PVRL1	5818	broad.mit.edu	37	11	119535607	119535607	+	Nonsense_Mutation	SNP	G	G	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr11:119535607G>C	uc001pwv.3	-	5	1576	c.1404C>G	c.(1402-1404)taC>taG	p.Y468*	PVRL1_uc001pwu.1_Intron	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 1, mRNA.	468					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCACGGTGAAGTAGGGCCGCT	0.667												
GPR162	10536	broad.mit.edu	37	12	6939135	6939135	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:6939135G>A	uc001qra.1	+	2	642	c.608G>A	c.(607-609)cGg>cAg	p.R203Q	GPR162_uc001qrb.1_Missense_Mutation_p.R11Q|GPR162_uc001qqy.1_Missense_Mutation_p.R139Q	NM_014262	NP_055077	Q16538	GP162_HUMAN	Homo sapiens leprecan-like 2 (LEPREL2), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TCGGGAGTTCGGCCCCAGAGC	0.602												
C12orf39	80763	broad.mit.edu	37	12	21681996	21681996	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:21681996G>A	uc001rfa.1	+	4	421	c.270G>A	c.(268-270)gcG>gcA	p.A90A	C12orf39_uc009ziv.1_Non-coding_Transcript|C12orf39_uc009ziw.1_Non-coding_Transcript	NM_030572	NP_085049	Q9BT56	SPXN_HUMAN	Homo sapiens chromosome 12 open reading frame 39 (C12orf39), mRNA.	90						extracellular region|nucleus|transport vesicle				endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						TCTTACTGGCGTCCCTTCAGA	0.438												
ITPR2	3709	broad.mit.edu	37	12	26628304	26628304	+	Silent	SNP	A	A	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:26628304A>G	uc001rhg.3	-	44	6684	c.6267T>C	c.(6265-6267)caT>caC	p.H2089H	ITPR2_uc009zjg.1_Silent_p.H240H	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	2089					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CATCATCCCCATGGTCACATT	0.368												
SCAF11	9169	broad.mit.edu	37	12	46321868	46321868	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:46321868G>C	uc001rox.3	-	10	1903	c.1616C>G	c.(1615-1617)aCa>aGa	p.T539R	SCAF11_uc001row.3_Missense_Mutation_p.T224R|SCAF11_uc001roy.1_Missense_Mutation_p.T613R	NM_004719	NP_004710	Q99590	SCAFB_HUMAN	Homo sapiens SR-related CTD-associated factor 11 (SCAF11), mRNA.	539					spliceosome assembly	nucleus	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						ACATACATCTGTCTTTACCTC	0.363												
SPATS2	65244	broad.mit.edu	37	12	49919998	49919998	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:49919998G>A	uc001rud.2	+	13	2587	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	SPATS2_uc001rue.2_Non-coding_Transcript|SPATS2_uc009zli.1_Missense_Mutation_p.R533H|SPATS2_uc001ruf.2_Missense_Mutation_p.R533H	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2 (SPATS2), mRNA.	533						cytoplasm		p.R533H(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						CTCCCCCAGCGCAAACCCAGG	0.522												
MGAT4C	25834	broad.mit.edu	37	12	86373320	86373324	+	Frame_Shift_Del	DEL	TTTAC	TTTAC	-			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:86373320_86373324delTTTAC	uc010sum.2	-	5	1411_1415	c.1252_1256delGTAAA	c.(1252-1257)gtaaatfs	p.V418fs	MGAT4C_uc001tal.4_Frame_Shift_Del_p.V394fs|MGAT4C_uc001taj.4_Frame_Shift_Del_p.V394fs|MGAT4C_uc001tak.4_Frame_Shift_Del_p.V394fs|MGAT4C_uc001tai.4_Frame_Shift_Del_p.V394fs|MGAT4C_uc001tah.4_Frame_Shift_Del_p.V394fs	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	394					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGTTCCAGTATTTACtttaattttt	0.346												
RFX4	5992	broad.mit.edu	37	12	107033171	107033172	+	Splice_Site	INS	-	-	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:107033171_107033172insT	uc001tlt.3	+	3	358	c.218_splice	c.e3+1	p.W73_splice	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Splice_Site_p.W64_splice|RFX4_uc010swv.2_Splice_Site|RFX4_uc001tls.3_Splice_Site_p.W73_splice	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	64					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CTCTGCAATGGTAAGTTTCCAT	0.371												
FLT3	2322	broad.mit.edu	37	13	28592630	28592630	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr13:28592630C>G	uc001urw.3	-	19	2597	c.2515G>C	c.(2515-2517)Gat>Cat	p.D839H	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Intron	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	839	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.D839?(2)|p.D835_S838del(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TAGTTGGAATCACTCATGATA	0.453			"""Mis, O"""		"""AML, ALL"""							
RB1	5925	broad.mit.edu	37	13	48955560	48955563	+	Frame_Shift_Del	DEL	AATC	AATC	-			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr13:48955560_48955563delAATC	uc001vcb.3	+	16	1842_1845	c.1676_1679delAATC	c.(1675-1680)gaatccfs	p.E559fs		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	559	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGAATCATGGAATCCCTTGCATGG	0.328		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)		
CTAGE11P	647288	broad.mit.edu	37	13	75814354	75814354	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr13:75814354C>G	uc010ths.2	-	0	164	c.123G>C	c.(121-123)tgG>tgC	p.W41C						Homo sapiens CTAGE family, member 11, pseudogene (CTAGE11P), non-coding RNA.																		CCACCAGTTCCCATGGAAAAC	0.488												
PSMA3	5684	broad.mit.edu	37	14	58737688	58737688	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr14:58737688T>C	uc001xdj.2	+	9	811	c.695T>C	c.(694-696)aTa>aCa	p.I232T	C14orf37_uc010tro.2_Intron|PSMA3_uc001xdk.2_Missense_Mutation_p.I225T|PSMA3_uc021rtt.1_Missense_Mutation_p.I157T|C14orf37_uc001xdl.3_Intron|C14orf37_uc021rtu.1_Intron	NM_002788	NP_002779	P25788	PSA3_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 3 (PSMA3), transcript variant 1, mRNA.	232					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						CCAAAAGATATAAGAGAAGAA	0.368												
CDCA4	55038	broad.mit.edu	37	14	105477700	105477700	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr14:105477700G>A	uc021sep.1	-	0	567	c.567C>T	c.(565-567)taC>taT	p.Y189Y	CDCA4_uc001yqa.2_Silent_p.Y189Y|CDCA4_uc001yqb.2_Silent_p.Y189Y	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	Homo sapiens cell division cycle associated 4 (CDCA4), transcript variant 2, mRNA.	189						nucleus				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		TGTCCAGGTCGTAGTAGGGGC	0.587												
MKRN3	7681	broad.mit.edu	37	15	23812072	23812072	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:23812072G>A	uc001ywh.4	+	0	1619	c.1143G>A	c.(1141-1143)gaG>gaA	p.E381E	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Silent_p.E381E	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	381						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGGAGGAGGAGGAAGAGAAGC	0.507												
FMN1	342184	broad.mit.edu	37	15	33358855	33358855	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:33358855G>A	uc001zhf.4	-	0	1231	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	FMN1_uc001zhg.2_Missense_Mutation_p.R411W	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	172	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTGGGGGGCCGGATGAATAGG	0.567												
GPR176	11245	broad.mit.edu	37	15	40093624	40093624	+	Silent	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:40093624C>T	uc001zkj.1	-	2	2123	c.1257G>A	c.(1255-1257)gcG>gcA	p.A419A	GPR176_uc010uck.1_Silent_p.A359A	NM_007223	NP_009154	Q14439	GP176_HUMAN	Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA.	419					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GGGCAGAGGGCGCAAACTGTG	0.572												
PLA2G4D	283748	broad.mit.edu	37	15	42364007	42364007	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:42364007C>A	uc001zox.3	-	14	1633	c.1538G>T	c.(1537-1539)aGg>aTg	p.R513M		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	513	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	p.R513G(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CGGGATCCTCCTCATCAGCCG	0.617												
C15orf48	84419	broad.mit.edu	37	15	45724277	45724277	+	Nonsense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:45724277C>T	uc001zvg.3	+	3	248	c.130C>T	c.(130-132)Cga>Tga	p.R44*	C15orf48_uc001zvh.3_Nonsense_Mutation_p.R44*|C15orf48_uc021skp.1_5'Flank	NM_197955	NP_922946	Q9C002	NMES1_HUMAN	Homo sapiens chromosome 15 open reading frame 48 (C15orf48), transcript variant 1, mRNA.	44						nucleus				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		TAGCCTTGATCGAAAAAAAAA	0.313												
UACA	55075	broad.mit.edu	37	15	70970467	70970467	+	Missense_Mutation	SNP	C	C	T	rs145715387		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:70970467C>T	uc002asr.3	-	10	1074	c.970G>A	c.(970-972)Gtc>Atc	p.V324I	UACA_uc010uke.2_Missense_Mutation_p.V215I|UACA_uc002asq.3_Missense_Mutation_p.V311I|UACA_uc010bin.1_Missense_Mutation_p.V310I	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	324						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AAACCATTGACTTTATCCAAA	0.284												
MYH11	4629	broad.mit.edu	37	16	15857677	15857677	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr16:15857677G>A	uc002ddx.3	-	10	1233	c.1126C>T	c.(1126-1128)Cag>Tag	p.Q376*	MYH11_uc002ddv.3_Nonsense_Mutation_p.Q376*|MYH11_uc002ddw.3_Nonsense_Mutation_p.Q369*|MYH11_uc002ddy.3_Nonsense_Mutation_p.Q369*|MYH11_uc010bvg.3_Nonsense_Mutation_p.Q201*|MYH11_uc002dea.1_Nonsense_Mutation_p.Q75*	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	369	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ATGGACGCCTGGTCTGTGTTT	0.507			T	CBFB	AML							
DNAH3	55567	broad.mit.edu	37	16	21145656	21145656	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr16:21145656C>T	uc010vbe.2	-	6	1006	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	DNAH3_uc002die.2_Missense_Mutation_p.A307T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	336	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S335S(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CACTTCTTGGCGCTCCTGTAG	0.527												
ITGAD	3681	broad.mit.edu	37	16	31426282	31426282	+	Silent	SNP	C	C	T	rs144306080	byFrequency	TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr16:31426282C>T	uc010cap.1	+	17	2305	c.2256C>T	c.(2254-2256)gcC>gcT	p.A752A	ITGAD_uc002ebv.1_Silent_p.A751A	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	751					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTGTGCTGGCCGTGGGCTCAC	0.537												
CYLD	1540	broad.mit.edu	37	16	50815179	50815179	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr16:50815179C>T	uc021tib.1	+	7	1664	c.1541C>T	c.(1540-1542)aCg>aTg	p.T514M	CYLD_uc002ego.3_Missense_Mutation_p.T511M|CYLD_uc010cbs.1_Missense_Mutation_p.T511M|CYLD_uc002egp.1_Missense_Mutation_p.T511M|CYLD_uc002egq.1_Missense_Mutation_p.T511M|CYLD_uc002egr.1_Missense_Mutation_p.T511M|CYLD_uc002egs.1_Missense_Mutation_p.T511M	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA.	514	CAP-Gly 3.|Interaction with IKBKG/NEMO.|Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.T514fs*29(2)|p.T514T(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GCAGGCTGTACGGATGGAACC	0.453			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis			
DNAAF1	123872	broad.mit.edu	37	16	84203580	84203580	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr16:84203580C>A	uc002fhl.4	+	7	1327	c.1146C>A	c.(1144-1146)agC>agA	p.S382R	DNAAF1_uc010vnw.2_Missense_Mutation_p.S146R	NM_178452	NP_848547	Q8NEP3	DAAF1_HUMAN	Homo sapiens dynein, axonemal, assembly factor 1 (DNAAF1), mRNA.	382					axonemal dynein complex assembly|cilium morphogenesis	cilium axoneme|cytoplasm|spindle pole	dynein binding			NS(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(4)|urinary_tract(1)	41						TTAAGGAAAGCTTTGAGGCCA	0.577												
NLRP1	22861	broad.mit.edu	37	17	5463322	5463322	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:5463322G>A	uc002gci.3	-	3	1249	c.694C>T	c.(694-696)Ccc>Tcc	p.P232S	NLRP1_uc002gcg.1_Missense_Mutation_p.P232S|NLRP1_uc002gch.4_Missense_Mutation_p.P232S|NLRP1_uc002gck.3_Missense_Mutation_p.P232S|NLRP1_uc002gcj.3_Missense_Mutation_p.P232S|NLRP1_uc002gcl.3_Missense_Mutation_p.P232S|NLRP1_uc010clh.3_Missense_Mutation_p.P232S	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	232					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCCCATGGGGGCCTGCCTTTC	0.507												
TP53	7157	broad.mit.edu	37	17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	rs28934575		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:7577548C>T	uc002gim.2	-	6	927	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.3_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(600)|p.G245C(110)|p.G245D(99)|p.G245V(58)|p.G244D(42)|p.G244C(37)|p.G244S(37)|p.G245R(20)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.G245A(8)|p.G152S(8)|p.0?(8)|p.G245fs*2(5)|p.G244fs*3(5)|p.?(5)|p.G245N(4)|p.G244_M246>V(4)|p.G152C(4)|p.G244R(4)|p.G245G(3)|p.G245H(2)|p.G245L(2)|p.G244fs*17(2)|p.G245F(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.G245fs*22(2)|p.S241_G245delSCMGG(2)|p.G245del(2)|p.G245fs*14(2)|p.G245fs*17(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245E(1)|p.G244fs*4(1)|p.G244fs*19(1)|p.C242fs*98(1)|p.G244del(1)|p.M243fs*18(1)|p.M243_G244>IC(1)|p.G244E(1)|p.G151_M153>V(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
MYH8	4626	broad.mit.edu	37	17	10297588	10297588	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:10297588C>T	uc002gmm.2	-	34	5239	c.5144G>A	c.(5143-5145)cGt>cAt	p.R1715H	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1715					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GAGCTGGACACGCTCACTGGC	0.512									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling			
CCL13	6357	broad.mit.edu	37	17	32685057	32685057	+	Missense_Mutation	SNP	A	A	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:32685057A>C	uc002hic.3	+	2	279	c.204A>C	c.(202-204)aaA>aaC	p.K68N		NM_005408	NP_005399	Q99616	CCL13_HUMAN	Homo sapiens chemokine (C-C motif) ligand 13 (CCL13), mRNA.	68					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity			large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				TCAGAACCAAACTGGGCAAGG	0.512												
KRT25	147183	broad.mit.edu	37	17	38911514	38911514	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:38911514G>A	uc002hve.3	-	0	71	c.10C>T	c.(10-12)Cga>Tga	p.R4*		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	4	Head.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTGGAAAGTCGAAGAGACATG	0.488												
DHX8	1659	broad.mit.edu	37	17	41601142	41601142	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:41601142G>A	uc002idu.1	+	22	3662	c.3590G>A	c.(3589-3591)cGt>cAt	p.R1197H	DHX8_uc010wig.2_Intron	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	1197						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AAGCAACAGCGTCTTGAACCC	0.517												
TBX21	30009	broad.mit.edu	37	17	45822386	45822386	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:45822386G>A	uc002ilv.1	+	5	1473	c.1262G>A	c.(1261-1263)cGa>cAa	p.R421Q		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	Homo sapiens T-box 21 (TBX21), mRNA.	421					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCCTACTACCGAGGCCAGGAG	0.662												
MC2R	4158	broad.mit.edu	37	18	13885081	13885081	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr18:13885081C>T	uc002ksp.1	-	1	614	c.437G>A	c.(436-438)cGc>cAc	p.R146H	MC2R_uc021uhs.1_Missense_Mutation_p.R146H	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	146			R -> H (in GCCD1).		G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	p.R146H(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CACCACAGTGCGGCGCATGGT	0.577												
ATP5A1	498	broad.mit.edu	37	18	43668121	43668121	+	Silent	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr18:43668121T>C	uc002lbr.1	-	5	843	c.753A>G	c.(751-753)caA>caG	p.Q251Q	ATP5A1_uc010dnl.1_Silent_p.Q201Q|ATP5A1_uc002lbs.1_Silent_p.Q201Q|ATP5A1_uc002lbt.1_Silent_p.Q251Q	NM_004046	NP_004037	P25705	ATPA_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle (ATP5A1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	251					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						TGGATCTCTTTTGACCAATAG	0.368												
INSR	3643	broad.mit.edu	37	19	7117197	7117197	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:7117197G>A	uc002mgd.1	-	21	4128	c.4019C>T	c.(4018-4020)gCg>gTg	p.A1340V	INSR_uc002mge.1_Missense_Mutation_p.A1328V	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	1340					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	p.A1340V(5)|p.A1340A(1)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCGGCCCCCCGCCTCCTCCCT	0.592												
FBN3	84467	broad.mit.edu	37	19	8160957	8160957	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:8160957G>A	uc002mjf.3	-	43	5564	c.5547C>T	c.(5545-5547)gaC>gaT	p.D1849D		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1849	EGF-like 29; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGTCACACTCGTCAATGTCTG	0.582												
OR7C1	26664	broad.mit.edu	37	19	14910414	14910414	+	Frame_Shift_Del	DEL	A	A	-			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:14910414delA	uc010xnz.2	-	0	535	c.535delT	c.(535-537)tgtfs	p.C179fs		NM_198944	NP_945182	O76099	OR7C1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 1 (OR7C1), mRNA.	179					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	p.C179fs*7(2)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AGTAGATCACAAAAAAAGTGT	0.478												
UPF1	5976	broad.mit.edu	37	19	18976409	18976409	+	Missense_Mutation	SNP	G	G	A	rs139317612		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:18976409G>A	uc002nkg.3	+	21	3367	c.3092G>A	c.(3091-3093)cGc>cAc	p.R1031H	UPF1_uc002nkf.3_Missense_Mutation_p.R1020H|UPF1_uc002nkh.3_Missense_Mutation_p.R275H	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	1031					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGTGGGGGACGCCAGAAGAAC	0.642												
PLEKHG2	64857	broad.mit.edu	37	19	39908257	39908257	+	Silent	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:39908257T>C	uc010xuz.2	+	7	1132	c.807T>C	c.(805-807)gcT>gcC	p.A269A	PLEKHG2_uc010xuy.2_Silent_p.A210A|PLEKHG2_uc002olj.3_Silent_p.A269A|PLEKHG2_uc010xva.2_Silent_p.A76A	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	269	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGGAGGAAGCTATTGTGTCCA	0.647												
XRCC1	7515	broad.mit.edu	37	19	44057610	44057610	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:44057610C>T	uc002owt.2	-	5	664	c.544G>A	c.(544-546)Gcc>Acc	p.A182T	XRCC1_uc010xwp.1_Missense_Mutation_p.A151T	NM_006297	NP_006288	P18887	XRCC1_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.	182					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				AGAGAGTTGGCGCTCTCATCC	0.577								Other BER factors				
NLRP2	55655	broad.mit.edu	37	19	55501996	55501996	+	Silent	SNP	G	G	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:55501996G>C	uc021vbq.1	+	9	2775	c.2664G>C	c.(2662-2664)ctG>ctC	p.L888L	NLRP2_uc010yfp.2_Silent_p.L865L|NLRP2_uc002qij.3_Silent_p.L888L|NLRP2_uc010esp.3_Silent_p.L866L|NLRP2_uc010esn.3_Silent_p.L864L|NLRP2_uc010eso.3_Silent_p.L885L	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	888					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGAAGTTTCTGTGTGAGGGCT	0.567												
NLRP5	126206	broad.mit.edu	37	19	56539073	56539073	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:56539073G>A	uc002qmj.3	+	6	1474	c.1474G>A	c.(1474-1476)Gcc>Acc	p.A492T	NLRP5_uc002qmi.3_Missense_Mutation_p.A473T	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	492	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGAGAGCGTCGCCCCCTTCAA	0.637												
DYSF	8291	broad.mit.edu	37	2	71909724	71909724	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:71909724C>T	uc010fen.3	+	54	6379	c.6238C>T	c.(6238-6240)Cgg>Tgg	p.R2080W	DYSF_uc010fei.3_Missense_Mutation_p.R2058W|DYSF_uc010feh.3_Missense_Mutation_p.R2048W|DYSF_uc002sig.4_Missense_Mutation_p.R2027W|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R2072W|DYSF_uc010fee.3_Missense_Mutation_p.R2062W|DYSF_uc010fef.3_Missense_Mutation_p.R2079W|DYSF_uc002sie.3_Missense_Mutation_p.R2041W|DYSF_uc010feo.3_Missense_Mutation_p.R2073W|DYSF_uc010fej.3_Missense_Mutation_p.R2049W|DYSF_uc010fel.3_Missense_Mutation_p.R2028W|DYSF_uc010fem.3_Missense_Mutation_p.R2063W|DYSF_uc002sif.3_Missense_Mutation_p.R2042W|DYSF_uc010fek.3_Missense_Mutation_p.R2059W|DYSF_uc010yqy.2_Missense_Mutation_p.R922W|DYSF_uc010yqz.2_Missense_Mutation_p.R802W	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	2041						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CATCCTGTGGCGGCGTTTCCG	0.582												
ASTL	431705	broad.mit.edu	37	2	96798441	96798441	+	Missense_Mutation	SNP	G	G	A	rs145986421		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:96798441G>A	uc010yui.2	-	5	475	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	159					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCTCCACTGCGCCCCACACTC	0.627												
NEB	4703	broad.mit.edu	37	2	152470900	152470900	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:152470900G>A	uc021vrb.1	-	71	10791	c.10762C>T	c.(10762-10764)Cag>Tag	p.Q3588*	NEB_uc002txu.3_Nonsense_Mutation_p.Q3831*|NEB_uc021vrc.1_Nonsense_Mutation_p.Q3831*|NEB_uc010fnx.3_Nonsense_Mutation_p.Q3576*|NEB_uc021vrd.1_Nonsense_Mutation_p.Q3588*	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3588					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACAAGGATCTGACACTTCTTG	0.527												
ZNF804A	91752	broad.mit.edu	37	2	185801478	185801478	+	Nonsense_Mutation	SNP	C	C	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:185801478C>G	uc002uph.3	+	3	1949	c.1355C>G	c.(1354-1356)tCa>tGa	p.S452*		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	452						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACGAAACCATCAATTTCCTAT	0.333												
COL3A1	1281	broad.mit.edu	37	2	189851838	189851838	+	Silent	SNP	A	A	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:189851838A>G	uc002uqj.1	+	4	618	c.501A>G	c.(499-501)ggA>ggG	p.G167G		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	167	Nonhelical region (N-terminal).				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TAGCAGTAGGAGGACTCGCAG	0.403												
COL3A1	1281	broad.mit.edu	37	2	189864035	189864035	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:189864035C>A	uc002uqj.1	+	29	2164	c.2047C>A	c.(2047-2049)Cgt>Agt	p.R683S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	683	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCCTGGTGAACGTGGACCTCC	0.493												
ANKAR	150709	broad.mit.edu	37	2	190571779	190571779	+	Missense_Mutation	SNP	A	A	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:190571779A>C	uc002uqw.2	+	8	2114	c.2026A>C	c.(2026-2028)Atc>Ctc	p.I676L	ANKAR_uc002uqu.3_Non-coding_Transcript	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	676						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAATAATATAATCCATTTATC	0.343												
ZNF142	7701	broad.mit.edu	37	2	219507508	219507508	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:219507508C>T	uc002vin.3	-	7	4167	c.3731G>A	c.(3730-3732)cGc>cAc	p.R1244H	ZNF142_uc002vil.3_Missense_Mutation_p.R1205H|ZNF142_uc010fvt.3_Missense_Mutation_p.R1081H|ZNF142_uc002vim.3_Missense_Mutation_p.R1081H	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCGGTGCAAGCGCAGTTTCGA	0.542												
NYAP2	57624	broad.mit.edu	37	2	226447451	226447451	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:226447451G>A	uc002voe.2	+	3	1493	c.1318G>A	c.(1318-1320)Gtc>Atc	p.V440I	NYAP2_uc010fxa.1_Intron|NYAP2_uc002vof.1_Missense_Mutation_p.V210I	NM_020864	NP_065915	Q9P242	K1486_HUMAN	Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2 (NYAP2), mRNA.	440	Pro-rich.							p.V440I(1)									TCCCTCCCCCGTCAGCATGGG	0.642												
TRPM8	79054	broad.mit.edu	37	2	234891861	234891861	+	Silent	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:234891861C>T	uc002vvh.3	+	19	2794	c.2754C>T	c.(2752-2754)gaC>gaT	p.D918D	TRPM8_uc010fyj.3_Silent_p.D496D|TRPM8_uc010fyk.3_Non-coding_Transcript	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	918						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGCCCAGTGACGTGGATGGTA	0.592												
VPS16	64601	broad.mit.edu	37	20	2843940	2843940	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr20:2843940G>A	uc002whe.3	+	14	1420	c.1372G>A	c.(1372-1374)Gtg>Atg	p.V458M	PTPRA_uc002whj.3_5'Flank|VPS16_uc002whf.3_Missense_Mutation_p.V314M|VPS16_uc002whg.3_Missense_Mutation_p.V144M	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	458					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TACCAGGCTCGTGTTGCGGAG	0.592												
SMOX	54498	broad.mit.edu	37	20	4162543	4162543	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr20:4162543C>T	uc002wkp.2	+	3	730	c.529C>T	c.(529-531)Cgt>Tgt	p.R177C	SMOX_uc010zqo.1_Missense_Mutation_p.R154C|SMOX_uc002wkk.1_Missense_Mutation_p.R177C|SMOX_uc002wkl.1_Missense_Mutation_p.R177C|SMOX_uc002wkm.1_Missense_Mutation_p.R177C|SMOX_uc002wkn.1_Intron|SMOX_uc002wko.1_Missense_Mutation_p.R177C	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	Homo sapiens spermine oxidase (SMOX), transcript variant 1, mRNA.	177					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGAGGAGGTGCGTAACCGCAT	0.537												
ZNF831	128611	broad.mit.edu	37	20	57767832	57767832	+	Silent	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr20:57767832C>T	uc002yan.3	+	0	1758	c.1758C>T	c.(1756-1758)gaC>gaT	p.D586D		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	586						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGGACACAGACGCAAAGAGAA	0.672												
SAMSN1	64092	broad.mit.edu	37	21	15889263	15889263	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr21:15889263T>C	uc002yju.1	-	2	311	c.229A>G	c.(229-231)Atg>Gtg	p.M77V	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.M145V	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	77					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TTTTTCTTCATTGTCCATGAA	0.338												
CAND2	23066	broad.mit.edu	37	3	12858462	12858462	+	Silent	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr3:12858462C>T	uc003bxk.2	+	9	2080	c.2031C>T	c.(2029-2031)gaC>gaT	p.D677D	CAND2_uc003bxj.2_Silent_p.D584D	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	677					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.D584D(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAGCCCTGGACGCCCTGGCCC	0.662												
SCN10A	6336	broad.mit.edu	37	3	38748876	38748876	+	Splice_Site	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr3:38748876T>C	uc003ciq.3	-	25	4282	c.4282_splice	c.e25-1	p.L1428_splice		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1428					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCCCCCTAAGTGCAGAGAGGG	0.512												
PCOLCE2	26577	broad.mit.edu	37	3	142557612	142557612	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr3:142557612G>A	uc003evd.3	-	5	1017	c.710_splice	c.e5+1	p.A237_splice		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA.	237	CUB 2.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TGCTACTTACGCAGGTGGACT	0.378												
GPR78	27201	broad.mit.edu	37	4	8582980	8582980	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:8582980T>C	uc003glk.3	+	0	764	c.271T>C	c.(271-273)Tcc>Ccc	p.S91P	GPR78_uc021xlj.1_Intron|CPZ_uc003gll.3_Non-coding_Transcript	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	91					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CTTCCTGGCGTCCAACGCGGC	0.706												
NCAPG	64151	broad.mit.edu	37	4	17816578	17816578	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:17816578G>A	uc003gpp.3	+	3	823	c.647G>A	c.(646-648)cGc>cAc	p.R216H	NCAPG_uc011bxj.2_5'UTR	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	Homo sapiens non-SMC condensin I complex, subunit G (NCAPG), mRNA.	216					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		ATTGTAGGGCGCACCAAGGAT	0.398												
LGI2	55203	broad.mit.edu	37	4	25014103	25014103	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:25014103G>T	uc003grf.2	-	6	773	c.674C>A	c.(673-675)aCt>aAt	p.T225N		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	225						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GTAGGGTAAAGTCTGATGAAC	0.473												
GABRG1	2565	broad.mit.edu	37	4	46043100	46043100	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:46043100G>A	uc003gxb.3	-	8	1455	c.1303C>T	c.(1303-1305)Cgc>Tgc	p.R435C		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	435					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.R435C(4)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TTGGCAATGCGTATGTGTATC	0.403												
UGT2B4	7363	broad.mit.edu	37	4	70361563	70361563	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:70361563G>A	uc003hek.4	-	0	64	c.17C>T	c.(16-18)aCt>aTt	p.T6I	UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Missense_Mutation_p.T6I	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	6					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AAGAGCTGAAGTCCATTTCAT	0.443												
PF4	5196	broad.mit.edu	37	4	74847163	74847163	+	Silent	SNP	G	G	A	rs144253863		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:74847163G>A	uc003hhi.2	-	1	234	c.189C>T	c.(187-189)gcC>gcT	p.A63A		NM_002619	NP_002610	P02776	PLF4_HUMAN	Homo sapiens platelet factor 4 (PF4), mRNA.	63					cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	AGTGGGGTCCGGCCTTGATCA	0.612												
MEPE	56955	broad.mit.edu	37	4	88766796	88766796	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:88766796G>A	uc021xpx.1	+	3	881	c.869G>A	c.(868-870)gGc>gAc	p.G290D	MEPE_uc021xpu.1_Missense_Mutation_p.G259D|MEPE_uc021xpv.1_Missense_Mutation_p.G146D|MEPE_uc021xpw.1_Missense_Mutation_p.G146D|MEPE_uc010ikn.3_Missense_Mutation_p.G146D|MEPE_uc003hqy.3_Missense_Mutation_p.G259D|MEPE_uc021xpy.1_Missense_Mutation_p.G146D	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	259					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGTGGGGACGGCCAACCTTTT	0.453												
FAM13A	10144	broad.mit.edu	37	4	89668975	89668975	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:89668975T>C	uc003hse.1	-	17	2397	c.2189A>G	c.(2188-2190)gAc>gGc	p.D730G	FAM13A_uc003hsa.1_Missense_Mutation_p.D201G|FAM13A_uc003hsb.1_Missense_Mutation_p.D404G|FAM13A_uc003hsd.1_Missense_Mutation_p.D404G|FAM13A_uc003hsc.1_Missense_Mutation_p.D390G|FAM13A_uc011cdq.1_Missense_Mutation_p.D376G|FAM13A_uc003hsf.1_Missense_Mutation_p.D316G|FAM13A_uc003hsg.1_Missense_Mutation_p.D201G	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	730					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GGGAGTTAGGTCCTCTTCAGA	0.398												
CDH18	1016	broad.mit.edu	37	5	19747074	19747074	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr5:19747074G>A	uc003jgd.3	-	3	1034	c.500C>T	c.(499-501)aCt>aTt	p.T167I	CDH18_uc011cnm.2_Missense_Mutation_p.T167I|CDH18_uc003jgc.3_Missense_Mutation_p.T167I|CDH18_uc021xwu.1_Missense_Mutation_p.T167I	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	167	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V166A(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTCAGGCACAGTAACAATGTA	0.338												
HEATR7B2	133558	broad.mit.edu	37	5	41012778	41012778	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr5:41012778G>A	uc003jmj.4	-	29	3532	c.3042C>T	c.(3040-3042)gaC>gaT	p.D1014D	HEATR7B2_uc003jmi.4_Silent_p.D569D	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1014							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TCTCCAGACCGTCCAGCATTT	0.478												
TTC37	9652	broad.mit.edu	37	5	94834176	94834176	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr5:94834176T>A	uc003klb.3	-	32	3758	c.3461A>T	c.(3460-3462)cAc>cTc	p.H1154L		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	1154							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ACTGTCTTTGTGTTTGATGTG	0.448												
SPOCK1	6695	broad.mit.edu	37	5	136476318	136476318	+	Nonsense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr5:136476318G>A	uc003lbo.3	-	2	489	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	SPOCK1_uc003lbp.3_Nonsense_Mutation_p.Q100*	NM_004598	NP_004589	Q08629	TICN1_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.	100					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGGTAGTCCTGGGTCACACAC	0.617												
GTF2H4	2968	broad.mit.edu	37	6	30876944	30876944	+	Missense_Mutation	SNP	T	T	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr6:30876944T>G	uc003nsa.1	+	1	338	c.131T>G	c.(130-132)gTc>gGc	p.V44G	GTF2H4_uc010jsf.2_Missense_Mutation_p.V44G|GTF2H4_uc011dmv.1_Intron	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 4, 52kDa (GTF2H4), mRNA.	44					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|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	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TGTCTGGCTGTCTTCAGGTGA	0.527								Nucleotide excision repair (NER)				
Unknown	653639	broad.mit.edu	37	6	33333333	33333333	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr6:33333333G>A								DAXX (42540 upstream) : KIFC1 (25980 downstream)																							AGTTAGACAGGAGGCAGCAGC	0.577												
Unknown	653639	broad.mit.edu	37	6	33333342	33333342	+	Silent	SNP	G	G	A	rs140475230	by1000genomes	TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr6:33333342G>A								DAXX (42549 upstream) : KIFC1 (25971 downstream)																							GGAGGCAGCAGCTTCTCAAGA	0.562												
AARS2	57505	broad.mit.edu	37	6	44268962	44268962	+	Silent	SNP	G	G	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr6:44268962G>C	uc010jza.1	-	20	2727	c.2724C>G	c.(2722-2724)ccC>ccG	p.P908P	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	908					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CAGACGTGCTGGGGGCCTGCT	0.647												
LGSN	51557	broad.mit.edu	37	6	63991036	63991036	+	Silent	SNP	G	G	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr6:63991036G>T	uc003peh.3	-	3	454	c.420C>A	c.(418-420)gcC>gcA	p.A140A	LGSN_uc003pei.3_Silent_p.A140A	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	140					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TAAAACATGTGGCTCTTATGT	0.408												
SLC22A2	6582	broad.mit.edu	37	6	160679391	160679391	+	Silent	SNP	C	C	T	rs112210325	byFrequency	TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr6:160679391C>T	uc003qtf.3	-	0	573	c.399G>A	c.(397-399)tcG>tcA	p.S133S	SLC22A2_uc003qth.2_Silent_p.S133S	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	133					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TGACGATGGACGAGCCAGGCG	0.627												
MLLT4	4301	broad.mit.edu	37	6	168317900	168317900	+	Frame_Shift_Del	DEL	T	T	-			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr6:168317900delT	uc021zik.1	+	18	2872	c.2553delT	c.(2551-2553)cctfs	p.P851fs	MLLT4_uc003qwb.1_Frame_Shift_Del_p.P876fs|MLLT4_uc003qwc.2_Frame_Shift_Del_p.P892fs|MLLT4_uc021zij.1_Frame_Shift_Del_p.P876fs|MLLT4_uc021zim.1_Frame_Shift_Del_p.P438fs|MLLT4_uc003qwg.1_Frame_Shift_Del_p.P201fs	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	892	Dilute.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTGATGAGCCTTTTATCCCAA	0.398			T	MLL	AL							
MAD1L1	8379	broad.mit.edu	37	7	2269722	2269722	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:2269722G>A	uc003slh.1	-	2	313	c.47C>T	c.(46-48)tCt>tTt	p.S16F	MAD1L1_uc003slf.1_Missense_Mutation_p.S16F|MAD1L1_uc003slg.1_Missense_Mutation_p.S16F|MAD1L1_uc010ksh.1_Missense_Mutation_p.S16F|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Missense_Mutation_p.S16F|MAD1L1_uc010ksj.3_Missense_Mutation_p.S16F	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	16					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GTTGTTCAAAGATCTCAGGGT	0.537												
SDK1	221935	broad.mit.edu	37	7	4009042	4009042	+	Missense_Mutation	SNP	C	C	T	rs145189416		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:4009042C>T	uc003smx.3	+	10	1839	c.1700C>T	c.(1699-1701)aCg>aTg	p.T567M		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	567	Ig-like C2-type 5.				cell adhesion	integral to membrane		p.T567T(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCATCGGCCACGCTCACTGTG	0.587												
POM121L12	285877	broad.mit.edu	37	7	53103741	53103741	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:53103741G>A	uc003tpz.3	+	0	393	c.377G>A	c.(376-378)cGt>cAt	p.R126H		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	126										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGGCTGTGTCGTGCCTGGAAC	0.701												
DGKI	9162	broad.mit.edu	37	7	137363356	137363356	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:137363356C>T	uc003vtt.3	-	2	554	c.553G>A	c.(553-555)Gtc>Atc	p.V185I	DGKI_uc003vtu.3_5'UTR	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	185					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TCTCCCGAGACGTTGGTCTCC	0.507												
HTR5A	3361	broad.mit.edu	37	7	154863096	154863096	+	Missense_Mutation	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:154863096G>A	uc003wlu.1	+	0	551	c.487G>A	c.(487-489)Gcg>Acg	p.A163T	LOC100128264_uc003wlt.2_5'UTR|LOC100128264_uc011kvt.1_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	163						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CGTCATGATCGCGCTCACCTG	0.627												
EN2	2020	broad.mit.edu	37	7	155251752	155251752	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:155251752C>T	uc003wmb.3	+	0	929	c.680C>T	c.(679-681)tCt>tTt	p.S227F		NM_001427	NP_001418	P19622	HME2_HUMAN	Homo sapiens engrailed homeobox 2 (EN2), mRNA.	227						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACCGGCCTTCTTCAGGTGAG	0.726												
LMBR1	64327	broad.mit.edu	37	7	156521400	156521400	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:156521400C>G	uc010lqn.3	-	11	1191	c.976G>C	c.(976-978)Gct>Cct	p.A326P	LMBR1_uc003wmv.4_Missense_Mutation_p.A133P|LMBR1_uc003wmw.4_Missense_Mutation_p.A285P|LMBR1_uc003wmx.4_Missense_Mutation_p.A133P|LMBR1_uc011kvx.2_Missense_Mutation_p.A264P	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.	285						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		CATGCTGAAGCCTTTTTTCGC	0.299												
TUSC3	7991	broad.mit.edu	37	8	15508246	15508246	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr8:15508246C>T	uc003wwt.3	+	2	693	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	TUSC3_uc003wwu.3_Missense_Mutation_p.R117C	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	117					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.R117C(2)|p.R117H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GAACTCCTGGCGCTATTCATC	0.398												
MSR1	4481	broad.mit.edu	37	8	16021625	16021625	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr8:16021625G>C	uc010lsu.3	-	4	884	c.820C>G	c.(820-822)Ctg>Gtg	p.L274V	MSR1_uc003wwz.3_Missense_Mutation_p.L256V|MSR1_uc003wxa.3_Missense_Mutation_p.L256V|MSR1_uc003wxb.3_Missense_Mutation_p.L256V|MSR1_uc011kxz.2_Missense_Mutation_p.L30V	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	256	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CAATCTTTCAGTCTGAGATCA	0.308												
EFCAB1	79645	broad.mit.edu	37	8	49643175	49643175	+	Silent	SNP	A	A	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr8:49643175A>G	uc003xqo.2	-	2	403	c.243T>C	c.(241-243)gaT>gaC	p.D81D	EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Silent_p.D29D|EFCAB1_uc010lxx.2_Non-coding_Transcript|EFCAB1_uc011ldk.1_Non-coding_Transcript	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	Homo sapiens EF-hand calcium binding domain 1 (EFCAB1), transcript variant 1, mRNA.	81	EF-hand 1.						calcium ion binding			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TTACACAGCCATCATTATCTT	0.368												
COLEC10	10584	broad.mit.edu	37	8	120118082	120118082	+	Silent	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr8:120118082C>T	uc003yoo.3	+	5	583	c.486C>T	c.(484-486)atC>atT	p.I162I		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	162	C-type lectin.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			TCTACTACATCGTGCAGGAAG	0.458												
CYP11B1	1584	broad.mit.edu	37	8	143956451	143956451	+	Silent	SNP	G	G	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr8:143956451G>A	uc010mey.3	-	9	1540	c.1533C>T	c.(1531-1533)caC>caT	p.H511H	CYP11B1_uc010mex.3_Silent_p.H139H|CYP11B1_uc003yxh.3_Intron|CYP11B1_uc003yxi.3_Silent_p.H440H|CYP11B1_uc003yxj.3_Intron	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	440					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CAAAGGGCACGTGGTAGAAGT	0.652									Familial Hyperaldosteronism type I			
TAF1L	138474	broad.mit.edu	37	9	32633905	32633905	+	Missense_Mutation	SNP	C	C	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:32633905C>A	uc003zrg.1	-	0	1763	c.1673G>T	c.(1672-1674)cGa>cTa	p.R558L	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	558					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CAAGAGAATTCGACTCTTCTT	0.458												
NOL6	65083	broad.mit.edu	37	9	33465223	33465223	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:33465223T>C	uc003zsz.3	-	19	2764	c.2663A>G	c.(2662-2664)gAg>gGg	p.E888G	NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Intron|NOL6_uc010mjv.3_Missense_Mutation_p.E885G|NOL6_uc011lob.2_Missense_Mutation_p.E836G|NOL6_uc003ztb.1_Missense_Mutation_p.E888G	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	888					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GGTGAAGGGCTCAGGGTGCAG	0.602												
TRPM3	80036	broad.mit.edu	37	9	73167906	73167906	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:73167906C>T	uc004aid.3	-	22	3636	c.3392G>A	c.(3391-3393)aGg>aAg	p.R1131K	TRPM3_uc004ahu.3_Missense_Mutation_p.R973K|TRPM3_uc004ahv.3_Missense_Mutation_p.R933K|TRPM3_uc004ahw.3_Missense_Mutation_p.R1003K|TRPM3_uc004ahx.3_Missense_Mutation_p.R990K|TRPM3_uc004ahy.3_Missense_Mutation_p.R993K|TRPM3_uc004ahz.3_Missense_Mutation_p.R980K|TRPM3_uc004aia.3_Missense_Mutation_p.R978K|TRPM3_uc004aib.3_Missense_Mutation_p.R968K|TRPM3_uc004aic.3_Missense_Mutation_p.R1131K	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1156						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAGCTGATACCTCTGAAACTT	0.423												
IKBKAP	8518	broad.mit.edu	37	9	111658909	111658909	+	Missense_Mutation	SNP	T	T	A			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:111658909T>A	uc004bdm.4	-	24	3123	c.2603A>T	c.(2602-2604)gAt>gTt	p.D868V	IKBKAP_uc004bdl.3_Missense_Mutation_p.D519V|IKBKAP_uc011lwc.2_Missense_Mutation_p.D754V|IKBKAP_uc010mtq.3_Missense_Mutation_p.D519V	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	868					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGCATCAGGATCAGAGGGAGC	0.368												
SPTAN1	6709	broad.mit.edu	37	9	131371470	131371470	+	Missense_Mutation	SNP	G	G	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:131371470G>C	uc004bvl.4	+	35	4807	c.4665G>C	c.(4663-4665)caG>caC	p.Q1555H	SPTAN1_uc004bvm.4_Missense_Mutation_p.Q1555H|SPTAN1_uc004bvn.4_Missense_Mutation_p.Q1535H	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	1555					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCCTCCAACAGTTCAGCCGGG	0.473												
LHX3	8022	broad.mit.edu	37	9	139092592	139092592	+	Silent	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:139092592C>T	uc004cgz.3	-	1	221	c.102G>A	c.(100-102)ccG>ccA	p.P34P	LHX3_uc022bpm.1_5'UTR|LHX3_uc004cha.3_Silent_p.P29P	NM_014564	NP_055379	Q9UBR4	LHX3_HUMAN	Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA.	29	LIM zinc-binding 1.			C -> R (in Ref. 2; AAF17291).	inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CAGCGCACAGCGGGATCTCTG	0.632												
PCYT1B	9468	broad.mit.edu	37	X	24580418	24580418	+	Missense_Mutation	SNP	C	C	G			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chrX:24580418C>G	uc004dbi.3	-	7	1335	c.1102G>C	c.(1102-1104)Gaa>Caa	p.E368Q	PCYT1B_uc004dbk.4_Intron|PCYT1B_uc004dbj.3_Missense_Mutation_p.E350Q	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 1, mRNA.	368						endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	p.E368G(1)		breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	CTCTACTTTTCATCCTCATCC	0.577												
DMD	1756	broad.mit.edu	37	X	32563337	32563337	+	Missense_Mutation	SNP	G	G	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chrX:32563337G>T	uc004dda.1	-	16	2351	c.2107C>A	c.(2107-2109)Ctt>Att	p.L703I	DMD_uc004dcz.2_Missense_Mutation_p.L580I|DMD_uc004dcy.1_Missense_Mutation_p.L699I|DMD_uc004ddb.1_Missense_Mutation_p.L695I|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Missense_Mutation_p.L695I	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	703					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGTGGTGGAAGTTCCTCTTGA	0.448												
CXorf22	170063	broad.mit.edu	37	X	35989828	35989828	+	Missense_Mutation	SNP	C	C	T			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chrX:35989828C>T	uc004ddj.3	+	11	2162	c.2096C>T	c.(2095-2097)gCg>gTg	p.A699V	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	699										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TCAATTAGAGCGAATCGATTG	0.448												
THOC2	57187	broad.mit.edu	37	X	122799597	122799597	+	Missense_Mutation	SNP	T	T	C			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chrX:122799597T>C	uc004etu.3	-	11	1314	c.1282A>G	c.(1282-1284)Agg>Ggg	p.R428G	THOC2_uc011muh.1_Missense_Mutation_p.R349G|THOC2_uc011mui.1_Missense_Mutation_p.R313G	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	428					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ACGTCTCTCCTCAAATCTTCA	0.403												
