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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SLCO4C1	353189	broad.mit.edu	37	5	101576431	101576431	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:101576431G>A	uc003knm.3	-	10	2154	c.1867C>T	c.(1867-1869)Cga>Tga	p.R623*		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	623					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CCTAATAATCGAAGGACCATA	0.323000														587			83		0	0	0.014410	0	0
PI4KAP2	375133	broad.mit.edu	37	22	21829555	21829555	+	Missense_Mutation	SNP	T	G	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr22:21829555T>G	uc002zuv.4	-	13	3847	c.1588A>C	c.(1588-1590)Atc>Ctc	p.I530L	PI4KAP2_uc002zuw.3_Intron|PI4KAP2_uc011aid.2_Intron					Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha pseudogene 2 (PI4KAP2), non-coding RNA.									p.I530L(8)		endometrium(3)|urinary_tract(1)	4						TCCAACATGATAGTGACCAGG	0.607000														71			6		0	0	0.001168	0	0
CSK	1445	broad.mit.edu	37	15	75091650	75091650	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr15:75091650C>T	uc010bkb.1	+	5	463	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	CSK_uc002ays.2_Missense_Mutation_p.R94W|CSK_uc010bkc.1_5'UTR	NM_001127190	NP_004374	P41240	CSK_HUMAN	Homo sapiens c-src tyrosine kinase (CSK), transcript variant 2, mRNA.	94	SH2.				T cell costimulation|T cell receptor signaling pathway|blood coagulation|epidermal growth factor receptor signaling pathway	Golgi apparatus|centrosome|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						GCAGGCTGAGCGGCTTCTGTA	0.637000														236			15		0	0	0.003163	0	0
MED1	5469	broad.mit.edu	37	17	37565585	37565585	+	Missense_Mutation	SNP	T	G	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr17:37565585T>G	uc002hrv.4	-	16	3101	c.2889A>C	c.(2887-2889)ttA>ttC	p.L963F	MED1_uc010wee.2_Missense_Mutation_p.L791F|MED1_uc002hru.2_Intron	NM_004774	NP_004765	Q15648	MED1_HUMAN	Homo sapiens mediator complex subunit 1 (MED1), mRNA.	963	Interaction with ESR1.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTTCTTTCCCTAAGTCCCCAG	0.483000										HNSCC(31;0.082)				215			11		0	0	0.008291	0	0
HELQ	113510	broad.mit.edu	37	4	84353360	84353360	+	Silent	SNP	C	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:84353360C>T	uc003hom.3	-	9	2288	c.2109G>A	c.(2107-2109)caG>caA	p.Q703Q	HELQ_uc010ikb.3_Silent_p.Q636Q|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	703	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TGCCAATCATCTGTTTATATT	0.358000								Other identified genes with known or suspected DNA repair function						298			18		0	0	0.006122	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23191911	23191911	+	RNA	SNP	C	T	T	rs147199465	by1000genomes	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr15:23191911C>T	uc001yvg.3	-	8		c.1726G>A			WHAMMP3_uc010ayc.3_Non-coding_Transcript|WHAMMP3_uc010ayd.3_Non-coding_Transcript					Homo sapiens WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3 (WHAMMP3), non-coding RNA.																		TGATTTTCTTCGCACTGATCC	0.408000														162			9		0	0	0.013537	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86279	86279	+	RNA	SNP	G	A	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chrGL000211.1:86279G>A	uc003bnz.1	+	5		c.1027G>A			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CTCTGTTACAGTGGTGAAATC	0.398000														41			6		0	0	0.013537	0	0
NLRP3	114548	broad.mit.edu	37	1	247592989	247592989	+	Silent	SNP	G	A	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:247592989G>A	uc001icr.3	+	5	2397	c.2259G>A	c.(2257-2259)ctG>ctA	p.L753L	NLRP3_uc001ics.3_Silent_p.L753L|NLRP3_uc001icu.3_Silent_p.L753L|NLRP3_uc001icw.3_Intron|NLRP3_uc001icv.3_Intron|NLRP3_uc010pyw.2_Silent_p.L751L	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	753					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACAATTCTCTGGGGGACCCAG	0.527000														385			22		0	0	0.012319	0	0
TRUB1	142940	broad.mit.edu	37	10	116698112	116698112	+	Missense_Mutation	SNP	A	C	C			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr10:116698112A>C	uc001lcd.3	+	0	161	c.100A>C	c.(100-102)Acc>Ccc	p.T34P	TRUB1_uc010qsl.2_Intron	NM_139169	NP_631908	Q8WWH5	TRUB1_HUMAN	Homo sapiens TruB pseudouridine (psi) synthase homolog 1 (E. coli) (TRUB1), mRNA.	34					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity	p.T34P(2)		breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		AATGGCTGCGACCCCGTCAGC	0.637000														78			11		0	0	0.012213	0	0
ATP8A1	10396	broad.mit.edu	37	4	42627669	42627669	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:42627669C>T	uc003gwr.2	-	2	458	c.226G>A	c.(226-228)Gct>Act	p.A76T	ATP8A1_uc003gws.2_Missense_Mutation_p.A76T|ATP8A1_uc011byz.1_Missense_Mutation_p.A76T	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	76					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GAATTAGCAGCTCTTCTGAAC	0.353000														270			21		0	0	0.002780	0	0
BC101079	0	broad.mit.edu	37	15	102292820	102292820	+	Silent	SNP	G	C	C			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr15:102292820G>C	uc010usj.2	+	3	467	c.408G>C	c.(406-408)acG>acC	p.T136T	DQ597539_uc002bxo.3_Non-coding_Transcript|DQ593624_uc002bxp.4_5'Flank|DQ576888_uc021sxy.1_5'Flank|DQ596486_uc002bxz.4_5'Flank|DQ582294_uc021syc.1_5'Flank|DQ595661_uc021sye.1_5'Flank|DQ588439_uc002byd.3_5'Flank|DQ593353_uc002bye.3_5'Flank|DQ597703_uc002byf.1_5'Flank|DQ585237_uc002byg.3_5'Flank|DQ588452_uc021syg.1_5'Flank|DQ586526_uc002byi.3_5'Flank|DQ588428_uc002byk.3_5'Flank|DQ597703_uc002bym.3_5'Flank|DQ571896_uc010usm.2_5'Flank|DQ586526_uc021syh.1_5'Flank|DQ588425_uc002byr.3_5'Flank					Homo sapiens cDNA clone IMAGE:40009338.									p.T136T(2)									GCGTGGGAACGAGAAGACACT	0.592000														72			9		0	0	0.001855	0	0
FOXS1	2307	broad.mit.edu	37	20	30432695	30432695	+	Silent	SNP	C	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr20:30432695C>T	uc002wwt.1	-	0	726	c.651G>A	c.(649-651)gcG>gcA	p.A217A		NM_004118	NP_004109	O43638	FOXS1_HUMAN	Homo sapiens forkhead box S1 (FOXS1), mRNA.	217					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GAAAGCCAAACGCTGGGCATG	0.617000														267			34		0	0	0.013726	0	0
KCNK13	56659	broad.mit.edu	37	14	90650874	90650874	+	Nonsense_Mutation	SNP	G	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:90650874G>T	uc001xye.1	+	1	1196	c.754G>T	c.(754-756)Gag>Tag	p.E252*		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	252						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				CGCCCACTATGAGAGCCAAGG	0.493000														472			31		1.32181e-22	1.42816e-22	0.007291	1	0
CABP5	56344	broad.mit.edu	37	19	48537514	48537514	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:48537514G>A	uc002phu.2	-	4	586	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W		NM_019855	NP_062829	Q9NP86	CABP5_HUMAN	Homo sapiens calcium binding protein 5 (CABP5), mRNA.	152	EF-hand 4.				signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		TCAGCCTCCCGGACAACCTCA	0.617000														211			24		0	0	0.003954	0	0
ANKRD30BL	554226	broad.mit.edu	37	2	132912341	132912341	+	Splice_Site	SNP	C	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:132912341C>T	uc002tti.3	-	4		c.755_splice	c.e4-1		ANKRD30BL_uc002ttj.3_Splice_Site					Homo sapiens ankyrin repeat domain 30B-like (ANKRD30BL), transcript variant 1, non-coding RNA.									p.A170T(2)		endometrium(1)|kidney(3)	4						GTGTGGCCAGCCTGTAAAACA	0.313000														43			4		0	0	0.001168	0	0
PAIP2B	400961	broad.mit.edu	37	2	71417026	71417026	+	Silent	SNP	C	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:71417026C>T	uc002shu.2	-	2	451	c.264G>A	c.(262-264)caG>caA	p.Q88Q		NM_020459	NP_065192	Q9ULR5	PAI2B_HUMAN	Homo sapiens poly(A) binding protein interacting protein 2B (PAIP2B), mRNA.	88					negative regulation of translational initiation		protein binding|translation repressor activity, nucleic acid binding			large_intestine(1)|lung(1)	2						CATTTAACTGCTGTTGCAACT	0.453000														41			4		0	0	0.009096	0	0
CCDC18	343099	broad.mit.edu	37	1	93672842	93672842	+	Nonsense_Mutation	SNP	G	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:93672842G>T	uc021opx.1	+	8	1257	c.1096G>T	c.(1096-1098)Gaa>Taa	p.E366*	CCDC18_uc009wdl.1_Nonsense_Mutation_p.E45*	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA.	366										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TGAAAACCGAGAATTAAAGGT	0.333000														233			14		1.52009e-12	1.60549e-12	0.003163	1	0
PCDHB3	56132	broad.mit.edu	37	5	140482066	140482066	+	Silent	SNP	G	A	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:140482066G>A	uc003lio.3	+	0	1833	c.1833G>A	c.(1831-1833)gaG>gaA	p.E611E	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	611	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.E611D(2)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCCACGGAGCCCGGGCTGT	0.706000														619			29		0	0	0.010818	0	0
PRDM13	59336	broad.mit.edu	37	6	100061823	100061823	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:100061823C>T	uc003pqg.1	+	3	1573	c.1312C>T	c.(1312-1314)Ccc>Tcc	p.P438S		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	Homo sapiens PR domain containing 13 (PRDM13), mRNA.	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CGCGCTGCCGCCCCTCGACCC	0.731000														154			13		0	0	0.002450	0	0
ZNF75A	7627	broad.mit.edu	37	16	3367798	3367798	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr16:3367798A>G	uc002cut.4	+	5	1346	c.820A>G	c.(820-822)Act>Gct	p.T274A	ZNF75A_uc002cuv.4_Non-coding_Transcript	NM_153028	NP_694573	Q96N20	ZN75A_HUMAN	Homo sapiens zinc finger protein 75a (ZNF75A), mRNA.	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						GCAGCCATATACTTGTAGCAT	0.463000														493			27		0	0	0.006320	0	0
KIAA0284	283638	broad.mit.edu	37	14	105346747	105346747	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:105346747C>T	uc001yps.3	+	4	553	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	KIAA0284_uc010axb.3_Missense_Mutation_p.R83W	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	153						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		GAAGGGGGACCGGAGACCAGG	0.667000														100			16		0	0	0.006122	0	0
OBSL1	23363	broad.mit.edu	37	2	220420834	220420834	+	Missense_Mutation	SNP	C	T	T	rs138086602	by1000genomes	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:220420834C>T	uc010fwk.3	-	13	4831	c.4517G>A	c.(4516-4518)cGc>cAc	p.R1506H	OBSL1_uc002vmh.1_Missense_Mutation_p.R405H|OBSL1_uc010zli.1_Missense_Mutation_p.R313H|OBSL1_uc010fwl.2_Missense_Mutation_p.R1506H	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	1506	Ig-like 12.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity	p.R1506H(1)					Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GATGAAGAGGCGGTGGATGTG	0.697000														183			20		0	0	0.014323	0	0
AL117485	0	broad.mit.edu	37	22	18845998	18845998	+	RNA	SNP	G	A	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr22:18845998G>A	uc002zoe.3	+	4		c.2360G>A			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		CCCGTCCTGCGCAGGCCGACA	0.607000														131			17		0	0	0.014323	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86033	86033	+	RNA	SNP	T	C	C			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chrGL000211.1:86033T>C	uc003bnz.1	+	5		c.781T>C			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CCATAGGGAGTTTATAGCTTC	0.403000														49			5		0	0	0.000602	0	0
DDX4	54514	broad.mit.edu	37	5	55059848	55059848	+	Nonsense_Mutation	SNP	C	G	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:55059848C>G	uc003jqg.4	+	5	389	c.290C>G	c.(289-291)tCa>tGa	p.S97*	DDX4_uc010ivz.3_Nonsense_Mutation_p.S97*|DDX4_uc003jqh.4_Nonsense_Mutation_p.S97*|DDX4_uc003jqj.3_5'Flank	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	97	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ATAGGTTTTTCAAACAGCAGG	0.318000														372			14		0	0	0.004007	0	0
IP6K2	51447	broad.mit.edu	37	3	48726088	48726088	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr3:48726088C>T	uc003cuq.3	-	5	1360	c.899G>A	c.(898-900)cGc>cAc	p.R300H	NCKIPSD_uc003cun.3_5'Flank|NCKIPSD_uc003cum.3_5'Flank|NCKIPSD_uc010hkh.2_5'Flank|IP6K2_uc003cup.3_Missense_Mutation_p.R300H	NM_016291	NP_057375	Q9UHH9	IP6K2_HUMAN	Homo sapiens inositol hexakisphosphate kinase 2 (IP6K2), transcript variant 1, mRNA.	300					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						GAGTTCACGGCGCAGGTACCG	0.567000														389			19		0	0	0.007413	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	768	768	+	RNA	SNP	G	A	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chrGL000237.1:768G>A	uc011mgu.1	-	1		c.450C>T								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		AGGAATCAGCGCTGCTGTCAC	0.617000														30			15		0	0	0.004007	0	0
AL117485	0	broad.mit.edu	37	22	18845990	18845990	+	RNA	SNP	C	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr22:18845990C>T	uc002zoe.3	+	4		c.2352C>T			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		ACCTCCATCCCGTCCTGCGCA	0.582000														119			14		0	0	0.006122	0	0
MAP2	4133	broad.mit.edu	37	2	210559008	210559008	+	Missense_Mutation	SNP	C	T	T	rs146432517		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:210559008C>T	uc002vde.1	+	6	2362	c.2114C>T	c.(2113-2115)cCg>cTg	p.P705L	MAP2_uc002vdc.1_Missense_Mutation_p.P705L|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Missense_Mutation_p.P701L	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	705			P -> L (in a colorectal cancer sample; somatic mutation).		central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	p.P705L(2)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	ATCAATTTGCCGATGTCTTGC	0.438000														786			102		0	0	0.014410	0	0
SLCO1C1	53919	broad.mit.edu	37	12	20903757	20903757	+	Silent	SNP	T	C	C	rs10841611	by1000genomes	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr12:20903757T>C	uc010sii.2	+	14	2302	c.1947T>C	c.(1945-1947)caT>caC	p.H649H	SLCO1C1_uc010sij.2_Intron|SLCO1C1_uc009zip.3_Silent_p.H483H|SLCO1C1_uc001rei.3_Intron|SLCO1C1_uc010sik.2_Silent_p.H531H	NM_001145946	NP_001139416	Q9NYB5	SO1C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1C1 (SLCO1C1), transcript variant 1, mRNA.	0					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	p.H649H(1)		NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CCGCATCTCATTGCTACAGCA	0.378000														311			17		0	0	0.004007	0	0
MEGF6	1953	broad.mit.edu	37	1	3415047	3415047	+	Silent	SNP	G	A	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:3415047G>A	uc001akl.3	-	25	3467	c.3240C>T	c.(3238-3240)gaC>gaT	p.D1080D	MEGF6_uc001akk.3_Silent_p.D889D	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	1080						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		CAGCTCTGACGTCCCGGGGGA	0.706000														40			4		0	0	0.009096	0	0
CHST11	50515	broad.mit.edu	37	12	105150940	105150940	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr12:105150940G>A	uc001tkz.3	+	2	916	c.418G>A	c.(418-420)Ggg>Agg	p.G140R	CHST11_uc001tky.3_Missense_Mutation_p.G135R	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 11 (CHST11), transcript variant 1, mRNA.	140					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity	p.T139T(1)		breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GGTCCTGACCGGGCGGGGGAA	0.597000														311			20		0	0	0.003330	0	0
CDH10	1008	broad.mit.edu	37	5	24535262	24535262	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:24535262G>A	uc003jgr.2	-	4	1279	c.773C>T	c.(772-774)aCg>aTg	p.T258M	CDH10_uc011cnu.2_Non-coding_Transcript	NM_006727	NP_006718	Q9Y6N8	CAD10_HUMAN	Homo sapiens cadherin 10, type 2 (T2-cadherin) (CDH10), mRNA.	258	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T258T(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		ATCTGTCAGCGTGATGTTCAC	0.483000										HNSCC(23;0.051)				306			17		0	0	0.006122	0	0
MIA3	375056	broad.mit.edu	37	1	222835427	222835427	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:222835427C>T	uc001hnl.3	+	24	5152	c.5143C>T	c.(5143-5145)Cga>Tga	p.R1715*	MIA3_uc001hnm.3_Nonsense_Mutation_p.R593*	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	1715	Pro-rich.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ACCTCATCCTCGATGGTCAGC	0.443000														309			43		0	0	0.011902	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101834438	101834438	+	Silent	SNP	T	G	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:101834438T>G	uc003knn.3	-	0	283	c.111A>C	c.(109-111)ggA>ggC	p.G37G	SLCO6A1_uc003kno.3_Silent_p.G37G|SLCO6A1_uc003knp.3_Silent_p.G37G|SLCO6A1_uc003knq.3_Silent_p.G37G	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	37						integral to membrane|plasma membrane	transporter activity	p.G37R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ACTTCGGGGTTCCCTTGGCCC	0.602000														779			97		0	0	0.014410	0	0
OR10K1	391109	broad.mit.edu	37	1	158435756	158435756	+	Silent	SNP	C	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:158435756C>T	uc010pij.2	+	0	405	c.405C>T	c.(403-405)ctC>ctT	p.L135L		NM_001004473	NP_001004473	Q8NGX5	O10K1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily K, member 1 (OR10K1), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					ACTCAGTGCTCATGGGACATG	0.547000														752			96		0	0	0.014410	0	0
GIF	2694	broad.mit.edu	37	11	59596985	59596985	+	Missense_Mutation	SNP	T	C	C			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr11:59596985T>C	uc001noi.3	-	8	1274	c.1226A>G	c.(1225-1227)cAc>cGc	p.H409R		NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	409					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GGCTGTGATGTGCTCGTGGTT	0.443000														212			14		0	0	0.004007	0	0
CLEC4M	10332	broad.mit.edu	37	19	7833838	7833838	+	Silent	SNP	C	A	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:7833838C>A	uc010dvt.3	+	6	1282	c.1164C>A	c.(1162-1164)atC>atA	p.I388I	CLEC4M_uc002mih.3_Silent_p.I365I|CLEC4M_uc010xjw.2_Silent_p.I321I|CLEC4M_uc010dvs.3_Silent_p.I364I|CLEC4M_uc010xjx.2_Silent_p.I337I|CLEC4M_uc002mhz.3_3'UTR|CLEC4M_uc002mic.3_3'UTR|CLEC4M_uc002mia.3_Silent_p.I252I	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	388	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	p.W387*(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						ATTACTGGATCTGCAAAAAGC	0.498000														384			24		0.000295444	0.000301866	0.014323	1	0
MTTP	4547	broad.mit.edu	37	4	100512445	100512445	+	Silent	SNP	G	C	C			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:100512445G>C	uc011cej.2	+	4	649	c.636G>C	c.(634-636)gtG>gtC	p.V212V	MTTP_uc003hvc.4_Silent_p.V185V	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	185	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AAGACAAAGTGATCAAAATTA	0.403000														389			47		0	0	0.013114	0	0
DDR2	4921	broad.mit.edu	37	1	162688902	162688902	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:162688902A>G	uc001gcf.3	+	3	514	c.49A>G	c.(49-51)Atc>Gtc	p.I17V	DDR2_uc001gcg.3_Missense_Mutation_p.I17V	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	17					cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GCTGCTGCCTATCTTGAGTTC	0.438000														393			48		0	0	0.014410	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58549468	58549468	+	Silent	SNP	C	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:58549468C>T	uc002qrc.1	+	2	511	c.264C>T	c.(262-264)ggC>ggT	p.G88G	ZSCAN1_uc002qra.1_Silent_p.G88G|ZSCAN1_uc002qrb.1_Silent_p.G88G	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	88	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AGTTCCTGGGCGCGCTGCCCA	0.697000														115			9		0	0	0.006214	0	0
HERC2P9	440248	broad.mit.edu	37	15	28929371	28929371	+	RNA	SNP	G	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr15:28929371G>T	uc010azc.3	+	13		c.2076G>T								Homo sapiens hect domain and RLD 2 pseudogene 9 (HERC2P9), non-coding RNA.																		GGAAGGAAAAGGCACACGCTG	0.453000														59			6		8.12818e-05	8.39615e-05	0.001984	1	0
FLT3	2322	broad.mit.edu	37	13	28622533	28622533	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr13:28622533C>T	uc001urw.3	-	8	1166	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.D362N	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	362					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			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)	TCATATTGGTCAATTTCATAA	0.323000			"""Mis, O"""		"""AML, ALL"""									213			32		0	0	0.008361	0	0
FNDC1	84624	broad.mit.edu	37	6	159653921	159653921	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:159653921G>A	uc010kjv.3	+	10	2577	c.2377G>A	c.(2377-2379)Gat>Aat	p.D793N	FNDC1_uc010kjw.1_Missense_Mutation_p.D678N	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	793						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGGTGACGGCGATAGGGAAGA	0.632000														110			10		0	0	0.008291	0	0
TRMT1	55621	broad.mit.edu	37	19	13227177	13227177	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:13227177G>A	uc002mwj.2	-	0	287	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C	NACC1_uc002mwm.3_5'Flank|TRMT1_uc002mwk.2_Missense_Mutation_p.R13C|TRMT1_uc002mwl.3_Missense_Mutation_p.R13C|TRMT1_uc010xmz.1_5'UTR	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA.	13							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CGGGCGGAGCGGAAAGTGAGG	0.657000														332			17		0	0	0.010504	0	0
SHROOM2	357	broad.mit.edu	37	X	9907312	9907312	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chrX:9907312C>T	uc004csu.1	+	7	4307	c.4217C>T	c.(4216-4218)gCg>gTg	p.A1406V	SHROOM2_uc004csv.2_Missense_Mutation_p.A241V|SHROOM2_uc011mic.1_Missense_Mutation_p.A241V|SHROOM2_uc004csw.1_Missense_Mutation_p.A241V	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1406	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GCCCCCAAGGCGGAGCTGCTG	0.597000														59			9		0	0	0.008291	0	0
CUL9	23113	broad.mit.edu	37	6	43155033	43155033	+	Silent	SNP	G	A	A	rs148427416		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:43155033G>A	uc003ouk.3	+	5	1512	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	CUL9_uc003ouj.1_Intron|CUL9_uc003oul.3_Silent_p.P479P|CUL9_uc010jyk.3_5'UTR|CUL9_uc003oum.1_Intron	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	479					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ACCCTTTGCCGTACCTCCAGC	0.532000														684			41		0	0	0.011902	0	0
MATN4	8785	broad.mit.edu	37	20	43926857	43926857	+	Missense_Mutation	SNP	C	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr20:43926857C>T	uc002xnn.2	-	6	1566	c.1379G>A	c.(1378-1380)cGc>cAc	p.R460H	MATN4_uc002xnp.2_Missense_Mutation_p.R378H|MATN4_uc002xno.2_Missense_Mutation_p.R419H|MATN4_uc010zwr.1_Missense_Mutation_p.R408H|MATN4_uc002xnr.1_Missense_Mutation_p.R460H	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	501	VWFA 2.					extracellular region	protein binding	p.R460C(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				ATCCTGGGAGCGGCCATCCGT	0.672000														380			32		0	0	0.004289	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	86194	86194	+	RNA	SNP	A	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chrGL000211.1:86194A>T	uc003bnz.1	+	5		c.942A>T			FLJ43315_uc003boa.3_Non-coding_Transcript					Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		TTTGGATTTCACCCATTGGTG	0.428000														59			5		0	0	0.001984	0	0
ATL1	51062	broad.mit.edu	37	14	51094836	51094836	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:51094836C>T	uc021rsw.1	+	11	1448	c.1207C>T	c.(1207-1209)Cga>Tga	p.R403*	ATL1_uc001wyd.4_Nonsense_Mutation_p.R403*|ATL1_uc001wyf.4_Nonsense_Mutation_p.R403*|ATL1_uc001wye.4_Nonsense_Mutation_p.R403*|ATL1_uc021rsx.1_Nonsense_Mutation_p.R403*	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN	Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.	403					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	Golgi cis cisterna|Golgi membrane|axon|endoplasmic reticulum membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						GAAGCTATTCCGAGGGGTGAA	0.443000														318			20		0	0	0.012319	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103514870	103514870	+	Silent	SNP	C	T	T	rs149867583	by1000genomes	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr13:103514870C>T	uc001vpu.2	+	15	2855	c.2733C>T	c.(2731-2733)caC>caT	p.H911H	BIVM-ERCC5_uc010tjb.2_Silent_p.H457H|BIVM-ERCC5_uc001vpw.3_Silent_p.H457H|BIVM-ERCC5_uc010tjc.1_Non-coding_Transcript|BIVM-ERCC5_uc010tjd.1_Silent_p.H289H	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	882					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										CAGAGGAGCACGTAGCCAGCA	0.478000														270			19		0	0	0.006122	0	0
CYP4Z2P	163720	broad.mit.edu	37	1	47325354	47325354	+	RNA	SNP	G	A	A	rs4660360	by1000genomes	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:47325354G>A	uc001cqo.1	-	8		c.1214C>T								Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		CATCTGGAAAGGTAATGGGTT	0.438000														386			44		0	0	0.014410	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr15:102515299G>A	uc002cdi.3	+	8	1943	c.523G>A	c.(523-525)Ggc>Agc	p.G175S	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652000														98			6		0	0	0.001984	0	0
MUC1	4582	broad.mit.edu	37	1	155160807	155160807	+	Silent	SNP	G	A	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:155160807G>A	uc021pap.1	-	3	819	c.747C>T	c.(745-747)agC>agT	p.S249S	MUC1_uc001fhz.3_5'UTR|MUC1_uc001fhy.3_5'UTR|MUC1_uc010pfb.2_Intron|MUC1_uc010pfh.2_Intron|MUC1_uc010pff.2_Intron|MUC1_uc010pfi.2_Intron|MUC1_uc010pfj.2_Silent_p.S115S|MUC1_uc010pfk.2_Intron|MUC1_uc010pfl.2_Intron|MUC1_uc010pfc.2_Intron|MUC1_uc009wph.3_Intron|MUC1_uc010pfe.2_Intron|MUC1_uc009wpi.3_Intron|MUC1_uc010pfg.2_Intron|MUC1_uc010pfd.2_Intron|MUC1_uc009wpy.3_Intron|MUC1_uc009wpu.3_Intron|MUC1_uc010pfm.2_5'UTR|MUC1_uc001fiq.3_5'UTR|MUC1_uc009wqa.3_Silent_p.S103S|MUC1_uc010pfn.2_Intron|MUC1_uc009wpn.3_Intron|MUC1_uc010pfo.2_Intron|MUC1_uc009wpw.3_Intron|MUC1_uc001fim.3_Intron|MUC1_uc001fil.3_Intron|MUC1_uc010pfp.2_Intron|MUC1_uc001fij.3_Intron|MUC1_uc009wqc.3_Intron|MUC1_uc009wqd.3_Silent_p.S41S|MUC1_uc001fia.3_Intron|MUC1_uc009wqb.3_Intron|MUC1_uc009wpx.3_Intron|MUC1_uc010pfq.2_Intron|MUC1_uc001fid.3_Intron|MUC1_uc001fit.3_Intron|MUC1_uc009wpz.3_Intron|MUC1_uc001fii.3_Intron|MUC1_uc001fik.3_Intron|MUC1_uc009wpo.3_Intron|MUC1_uc010pfr.2_Intron|MUC1_uc001fih.3_Intron|MUC1_uc001fio.3_Intron|MUC1_uc009wqe.3_Intron|MUC1_uc009wpl.3_Intron|MUC1_uc009wpp.3_Intron|MUC1_uc009wpm.3_Intron|MUC1_uc009wpk.3_Intron|MUC1_uc010pfs.2_Intron|MUC1_uc001fip.3_Intron|MUC1_uc021paq.1_Silent_p.S240S|MUC1_uc009wqg.3_Intron|MUC1_uc009wqf.3_Intron|MUC1_uc001fic.3_Intron|MUC1_uc009wps.3_Intron|MUC1_uc001fie.3_Intron|MUC1_uc009wpt.3_Intron|MUC1_uc009wpq.3_Intron|MUC1_uc009wpr.3_Intron|MUC1_uc001fig.3_Intron|MUC1_uc001fif.3_Intron|MUC1_uc001fin.3_Intron|MUC1_uc009wpj.3_Intron|MUC1_uc009wpv.3_Intron|MUC1_uc001fib.3_Intron|MUC1_uc001fis.2_Intron|DM075093_uc021par.1_5'Flank	NM_001204286	NP_001191215	P15941	MUC1_HUMAN	Homo sapiens mucin 1, cell surface associated (MUC1), transcript variant 10, mRNA.	1020	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAGGTACCGTGCTATGGTGAG	0.507000			T	IGH@	B-NHL									236			34		0	0	0.012213	0	0
MYO3A	53904	broad.mit.edu	37	10	26243817	26243817	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr10:26243817G>T	uc001isn.2	+	3	543	c.183G>T	c.(181-183)gaG>gaT	p.E61D	MYO3A_uc009xko.1_Missense_Mutation_p.E61D|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.E61D|MYO3A_uc001ism.2_Missense_Mutation_p.E61D	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	61	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	ADP binding|ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TTGACGAAGAGATTGAAGCAG	0.323000														451			43		3.7052e-28	4.04987e-28	0.013114	1	0
UBQLN3	50613	broad.mit.edu	37	11	5529285	5529285	+	Missense_Mutation	SNP	G	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr11:5529285G>T	uc021qcw.1	-	0	1504	c.1504C>A	c.(1504-1506)Caa>Aaa	p.Q502K	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.Q502K	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	502										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCTGTGGTTGTATCTCATCC	0.587000														367			23		2.32416e-17	2.48262e-17	0.014323	1	0
LOC645752	645752	broad.mit.edu	37	15	78211164	78211164	+	Silent	SNP	G	A	A	rs56350880	by1000genomes	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr15:78211164G>A	uc010bky.2	-	10	1367	c.603C>T	c.(601-603)ttC>ttT	p.F201F						Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		TGTGGTTCTGGAAGAGCACGA	0.592000														566			25		0	0	0.003330	0	0
TSC2	7249	broad.mit.edu	37	16	2137908	2137908	+	Silent	SNP	C	T	T	rs45467993		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr16:2137908C>T	uc002con.3	+	38	5140	c.5034C>T	c.(5032-5034)taC>taT	p.Y1678Y	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Silent_p.Y1655Y|TSC2_uc002coo.3_Silent_p.Y1611Y|TSC2_uc010uvv.2_Silent_p.Y1575Y|TSC2_uc010uvw.2_Silent_p.Y1563Y|TSC2_uc002cop.3_Silent_p.Y1434Y|TSC2_uc002coq.3_Silent_p.Y453Y	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1678	Rap-GAP.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|TSC1-TSC2 complex|nucleus|perinuclear region of cytoplasm	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CGCTGGACTACGAGTGCAACC	0.642000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					228			11		0	0	0.010729	0	0
UGP2	7360	broad.mit.edu	37	2	64117306	64117306	+	Missense_Mutation	SNP	A	G	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:64117306A>G	uc010ypx.2	+	8	1440	c.1433A>G	c.(1432-1434)aAt>aGt	p.N478S	UGP2_uc002scl.3_Missense_Mutation_p.N458S|UGP2_uc002scm.3_Missense_Mutation_p.N469S	NM_001001521	NP_001001521	Q16851	UGPA_HUMAN	Homo sapiens UDP-glucose pyrophosphorylase 2 (UGP2), transcript variant 2, mRNA.	469	Oligomerization (By similarity).				UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|glycogen biosynthetic process|phosphorylation|xenobiotic metabolic process	cytosol	UTP:glucose-1-phosphate uridylyltransferase activity|metal ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						TTTGGAAAAAATGTTTCATTA	0.289000														254			29		0	0	0.010818	0	0
WASH2P	375260	broad.mit.edu	37	2	114356221	114356221	+	Silent	SNP	C	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:114356221C>T	uc002tkh.3	+	5	757	c.699C>T	c.(697-699)ccC>ccT	p.P233P	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		GTGAGGGGCCCGGAGGAGCCT	0.657000														23			5		0	0	0.001168	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	36839	36839	+	RNA	SNP	C	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chrGL000241.1:36839C>T	uc011mgv.2	-	0		c.37G>A								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		GTATGTGACCCGGAGCAGCAC	0.577000														67			11		0	0	0.001855	0	0
PABPC3	5042	broad.mit.edu	37	13	25671664	25671664	+	Missense_Mutation	SNP	A	C	C			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr13:25671664A>C	uc001upy.3	+	0	1389	c.1328A>C	c.(1327-1329)aAt>aCt	p.N443T		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	443					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CCATTCCAAAATAAGCCCAGT	0.507000														685			47		0	0	0.014410	0	0
VCAN	1462	broad.mit.edu	37	5	82835841	82835841	+	Missense_Mutation	SNP	G	A	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:82835841G>A	uc003kii.3	+	7	7375	c.7019G>A	c.(7018-7020)gGa>gAa	p.G2340E	VCAN_uc003kij.3_Missense_Mutation_p.G1353E|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.G1004E	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	2340	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGTGACACTGGAGCAGAAGGA	0.468000														375			48		0	0	0.014410	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	G	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr9:20414343A>G	uc003zoe.2	-	4	760	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_uc011lne.1_Silent_p.S135S|MLLT3_uc011lnf.1_Silent_p.S164S|MLLT3_uc003zof.3_5'UTR	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(38)|p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL									228			15		0	0	0.004007	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	T	T	rs121913529		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr12:25398284C>T	uc001rgp.1	-	1	216	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				107			15		0	0	0.004007	0	0
AJAP1	55966	broad.mit.edu	37	1	4772583	4772585	+	In_Frame_Del	DEL	CCA	-	-	rs141981296	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:4772583_4772585delCCA	uc001alm.1	+	1	1034_1036	c.653_655delCCA	c.(652-657)gccacc>gcc	p.T225del	AJAP1_uc001aln.3_In_Frame_Del_p.T225del	NM_001042478	NP_061324	Q9UKB5	AJAP1_HUMAN	Homo sapiens adherens junctions associated protein 1 (AJAP1), transcript variant 2, mRNA.	225	Thr-rich.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		p.T225_A226insT(2)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		ACTGTGGccgccaccaccaccac	0.635													---	157	---	---	10	---					
MST1P2	11209	broad.mit.edu	37	1	16974141	16974141	+	RNA	DEL	G	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:16974141delG	uc009vow.2	+	4		c.951delG			CROCCP2_uc001azg.1_5'Flank|CROCCP2_uc001azi.1_5'Flank|MST1P2_uc010ocg.1_Non-coding_Transcript|MST1P2_uc010och.2_Intron|MST1P2_uc010oci.1_Non-coding_Transcript|MST1P2_uc001azk.2_Intron|MST1P2_uc009vox.3_Intron|MST1P2_uc001azm.4_Intron					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		TGGCTTGGCCGGGGAGGTCAG	0.667													---	38	---	---	9	---					
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:22838561_22838563delAAG	uc001bft.2	+	11	2906_2908	c.2395_2397delAAG	c.(2395-2397)aagdel	p.K803del	ZBTB40_uc001bfu.2_In_Frame_Del_p.K803del|ZBTB40_uc009vqi.1_In_Frame_Del_p.K691del|ZBTB40_uc001bfv.1_In_Frame_Del_p.K432del	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	803					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517													---	405	---	---	13	---					
C1orf94	84970	broad.mit.edu	37	1	34666398	34666398	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:34666398delA	uc001bxt.3	+	2	1873	c.1035delA	c.(1033-1035)ccafs	p.P345fs	C1orf94_uc001bxs.4_Frame_Shift_Del_p.P155fs	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	155							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CCAAGGAGCCAAAAAAGGGTC	0.572													---	491	---	---	9	---					
PTPRF	5792	broad.mit.edu	37	1	44071946	44071948	+	In_Frame_Del	DEL	GCG	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:44071946_44071948delGCG	uc001cjr.3	+	19	3859_3861	c.3519_3521delGCG	c.(3517-3522)cagcgg>cag	p.R1178del	PTPRF_uc001cjs.3_In_Frame_Del_p.R1169del|PTPRF_uc001cju.3_In_Frame_Del_p.R556del|PTPRF_uc009vwt.3_In_Frame_Del_p.R738del|PTPRF_uc001cjv.3_In_Frame_Del_p.R638del|PTPRF_uc001cjw.3_In_Frame_Del_p.R404del	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1178					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGAGGAGCAGCGGCGGCGGCGG	0.631													---	643	---	---	10	---					
CYP4Z2P	163720	broad.mit.edu	37	1	47325313	47325315	+	RNA	DEL	GTT	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:47325313_47325315delGTT	uc001cqo.1	-	8		c.1253_1255delAAC								Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 2 pseudogene (CYP4Z2P), non-coding RNA.																		AAAAAAAAAAGTTGTTTTAAGAC	0.409													---	334	---	---	12	---					
SYCP1	6847	broad.mit.edu	37	1	115537600	115537601	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:115537600_115537601insA	uc001efr.3	+	31	3100_3101	c.2891_2892insA	c.(2890-2892)agafs	p.R964fs	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Frame_Shift_Ins_p.R964fs|SYCP1_uc009wgw.3_Frame_Shift_Ins_p.R939fs	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	964	Arg/Lys-rich (basic).				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAATGGATAGAAAAAAAAAAC	0.356													---	275	---	---	7	---					
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:147091501delC	uc001epq.3	+	7	2280	c.1540delC	c.(1540-1542)cccfs	p.P514fs	BCL9_uc010ozr.1_Frame_Shift_Del_p.P440fs	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	514	Poly-Pro.|Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GGTCCGAGGACCCCCCCCTCC	0.582			T	"""IGH@, IGL@"""	B-ALL								---	819	---	---	15	---					
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	-	-	rs11556342		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:154245864_154245866delGAA	uc010peo.2	+	1	267_269	c.106_108delGAA	c.(106-108)gaadel	p.E40del	HAX1_uc001fet.3_Intron|HAX1_uc001fes.3_In_Frame_Del_p.E40del|HAX1_uc009wou.3_5'UTR	NM_006118	NP_006109	O00165	HAX1_HUMAN	Homo sapiens HCLS1 associated protein X-1 (HAX1), transcript variant 1, mRNA.	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				---	425	---	---	14	---					
KCNN3	3782	broad.mit.edu	37	1	154680586	154680588	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:154680586_154680588delGCT	uc021pah.1	-	8	2419_2421	c.2105_2107delAGC	c.(2104-2109)cagctc>ctc	p.Q702del	KCNN3_uc001ffo.3_In_Frame_Del_p.Q382del|KCNN3_uc001ffp.3_In_Frame_Del_p.Q687del	NM_001204087	NP_001191016	Q9UGI6	KCNN3_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3 (KCNN3), transcript variant 3, mRNA.	692						integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			GCAGACAGGAGCTGCTGCTGCTG	0.640													---	760	---	---	14	---					
CCT3	7203	broad.mit.edu	37	1	156281851	156281852	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:156281851_156281852insC	uc001fol.2	-	10	1366_1367	c.1135_1136insG	c.(1135-1137)gctfs	p.A379fs	CCT3_uc010phj.2_Frame_Shift_Ins_p.A333fs|CCT3_uc010phk.2_Frame_Shift_Ins_p.A333fs|CCT3_uc001fon.2_Frame_Shift_Ins_p.A341fs|CCT3_uc010phl.2_Frame_Shift_Ins_p.A333fs	NM_005998	NP_005989	P49368	TCPG_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 3 (gamma) (CCT3), transcript variant 1, mRNA.	379					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTCTTTGCTAGCCCCCCGGAGG	0.460													---	524	---	---	48	---					
NOS1AP	9722	broad.mit.edu	37	1	162326888	162326890	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:162326888_162326890delCAG	uc001gbv.2	+	7	1288_1290	c.901_903delCAG	c.(901-903)cagdel	p.Q306del	NOS1AP_uc010pkr.1_In_Frame_Del_p.Q301del|NOS1AP_uc001gbw.2_In_Frame_Del_p.Q301del|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	306	Poly-Gln.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			gcagctcctccagcagcAGCAGC	0.611													---	392	---	---	10	---					
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:237024474delA	uc001hyi.4	+	19	2516	c.2093delA	c.(2092-2094)caafs	p.Q698fs	MTR_uc010pxw.2_Frame_Shift_Del_p.Q291fs|MTR_uc010pxx.2_Intron|MTR_uc010pxy.2_Frame_Shift_Del_p.Q552fs	NM_000254	NP_000245	Q99707	METH_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase (MTR), mRNA.	698	B12-binding N-terminal.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	p.N697T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308													---	379	---	---	7	---					
FMN2	56776	broad.mit.edu	37	1	240371335	240371337	+	In_Frame_Del	DEL	CCC	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:240371335_240371337delCCC	uc010pye.2	+	5	3460_3462	c.3235_3237delCCC	c.(3235-3237)cccdel	p.P1083del	FMN2_uc010pyd.2_In_Frame_Del_p.P1079del	NM_020066	NP_064450	Q9NZ56	FMN2_HUMAN	Homo sapiens formin 2 (FMN2), mRNA.	1079	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.G1082R(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AGCGGGCATACCCCCTCCGCCCC	0.729													---	60	---	---	8	---					
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr1:248616705_248616711delTGCTGCG	uc001iek.1	+	0	607_613	c.607_613delTGCTGCG	c.(607-615)tgctgcgtgfs	p.C203fs		NM_001004136	NP_001004136	Q6IF00	OR2T2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 2 (OR2T2), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527													---	368	---	---	7	---					
ATP6V1C2	245973	broad.mit.edu	37	2	10917819	10917820	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:10917819_10917820delAG	uc002ras.3	+	10	1043_1044	c.934_935delAG	c.(934-936)agafs	p.R312fs	ATP6V1C2_uc002rat.3_Intron	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	312					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GCAGACCGACAGAGAGAGAGAG	0.604													---	517	---	---	9	---					
ASXL2	55252	broad.mit.edu	37	2	26022304	26022306	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:26022304_26022306delCTG	uc002rgs.2	-	3	572_574	c.351_353delCAG	c.(349-354)agcagt>agt	p.117_118SS>S		NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	117	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCACCATCACTGCTGCTGCTGC	0.463													---	814	---	---	7	---					
NLRC4	58484	broad.mit.edu	37	2	32475056	32475056	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:32475056delT	uc002roi.3	-	3	2138	c.1877delA	c.(1876-1878)aagfs	p.K626fs	NLRC4_uc021vfq.1_Frame_Shift_Del_p.K626fs|NLRC4_uc002roj.2_Frame_Shift_Del_p.K626fs|NLRC4_uc010ezt.2_Intron	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	626					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTCTGCAGCCTTTTCCCATGA	0.458													---	1164	---	---	7	---					
CEBPZ	10153	broad.mit.edu	37	2	37454908	37454908	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:37454908delT	uc002rpz.3	-	1	1458	c.1428delA	c.(1426-1428)aaafs	p.K476fs		NM_005760	NP_005751	Q03701	CEBPZ_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), zeta (CEBPZ), mRNA.	476					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ATTCAACATCTTTTTTTTTGA	0.368													---	260	---	---	13	---					
RPL23AP32	56969	broad.mit.edu	37	2	54756587	54756588	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:54756587_54756588insA	uc010yot.1	+	0	229_230	c.105_106insA	c.(103-108)cacaaafs	p.H35fs	SPTBN1_uc002rxu.3_Intron|SPTBN1_uc002rxv.1_Intron					Homo sapiens ribosomal protein L23a pseudogene 32 (RPL23AP32), non-coding RNA.																		TCCACGGCCACAAAAAAAAGAA	0.540													---	534	---	---	11	---					
EIF2AK3	9451	broad.mit.edu	37	2	88874269	88874270	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:88874269_88874270delCT	uc002stc.4	-	12	3033_3034	c.2731_2732delAG	c.(2731-2733)aggfs	p.R911fs		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	911	Protein kinase.				ER overload response|activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ACACACGCTCCTCTCTCTCTCC	0.465													---	604	---	---	7	---					
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:96919781_96919783delTGC	uc002svq.3	-	3	756_758	c.480_482delGCA	c.(478-483)cagcat>cat	p.Q160del	TMEM127_uc002svr.3_In_Frame_Del_p.Q160del	NM_017849	NP_060319	O75204	TM127_HUMAN	Homo sapiens transmembrane protein 127 (TMEM127), transcript variant 1, mRNA.	160					negative regulation of TOR signaling cascade|negative regulation of cell proliferation	cytoplasm|integral to membrane|plasma membrane				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557													---	623	---	---	7	---					
RGPD3	653489	broad.mit.edu	37	2	107041534	107041534	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:107041534delA	uc010ywi.1	-	19	2946	c.2889delT	c.(2887-2889)tttfs	p.F963fs		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	963					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTGTTTGGCCAAAAATCACAC	0.398													---	1998	---	---	9	---					
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	-	-	rs112040677		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:131129929_131129934delGACGGG	uc002trc.3	+	12	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_uc002trb.3_In_Frame_Del_p.TG271del|PTPN18_uc002tre.3_In_Frame_Del_p.TG29del	NM_014369	NP_055184	Q99952	PTN18_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA.	378				Missing (in Ref. 1; CAA56105).		cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	p.T378_G379delTG(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777													---	17	---	---	7	---					
CYP20A1	57404	broad.mit.edu	37	2	204150380	204150380	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:204150380delA	uc010zif.2	+	8	1542	c.920delA	c.(919-921)caafs	p.Q307fs	CYP20A1_uc002uzv.4_Frame_Shift_Del_p.Q299fs|CYP20A1_uc002uzx.4_Frame_Shift_Del_p.Q197fs|CYP20A1_uc002uzy.4_Frame_Shift_Del_p.Q197fs|CYP20A1_uc002uzw.4_Non-coding_Transcript|CYP20A1_uc010ftw.3_Frame_Shift_Del_p.Q29fs	NM_177538	NP_803882	Q6UW02	CP20A_HUMAN	Homo sapiens cytochrome P450, family 20, subfamily A, polypeptide 1 (CYP20A1), mRNA.	299						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GAAGAAGTTCAAAAAAAATTA	0.348													---	407	---	---	7	---					
SP140	11262	broad.mit.edu	37	2	231159025	231159025	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:231159025delA	uc002vql.3	+	20	2123	c.2008delA	c.(2008-2010)aaafs	p.K670fs	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqn.3_Frame_Shift_Del_p.K556fs|SP140_uc002vqm.3_Frame_Shift_Del_p.K610fs|SP140_uc010fxl.3_Frame_Shift_Del_p.K643fs	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	670					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K672fs*4(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACGTTACAGGAAAAAAAAGGT	0.373													---	220	---	---	9	---					
UGT1A1	54658	broad.mit.edu	37	2	234526711	234526711	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr2:234526711delT	uc002vup.3	+	0	421	c.358delT	c.(358-360)tttfs	p.F120fs	UGT1A1_uc010zmv.1_Frame_Shift_Del_p.F120fs	NM_019076	NP_061949	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A8 (UGT1A8), mRNA.	123					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTTTAACTTATTTTTTTCGCA	0.373													---	831	---	---	8	---					
SATB1	6304	broad.mit.edu	37	3	18391133	18391135	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr3:18391133_18391135delCTG	uc003cbh.3	-	10	3554_3556	c.1819_1821delCAG	c.(1819-1821)cagdel	p.Q607del	SATB1_uc003cbi.3_In_Frame_Del_p.Q639del|SATB1_uc003cbj.3_In_Frame_Del_p.Q607del	NM_002971	NP_002962	Q01826	SATB1_HUMAN	Homo sapiens SATB homeobox 1 (SATB1), transcript variant 1, mRNA.	607	Poly-Gln.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	PML body|nuclear matrix	double-stranded DNA binding|sequence-specific DNA binding	p.Q606R(1)		NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						GCGGCGGTGCctgctgctgctgc	0.606													---	97	---	---	7	---					
QRICH1	54870	broad.mit.edu	37	3	49094314	49094316	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr3:49094314_49094316delTGC	uc010hkq.3	-	3	1613_1615	c.1317_1319delGCA	c.(1315-1320)cagcaa>caa	p.439_440QQ>Q	QRICH1_uc003cvu.3_In_Frame_Del_p.439_440QQ>Q|QRICH1_uc003cvv.3_In_Frame_Del_p.439_440QQ>Q|QRICH1_uc021wxr.1_In_Frame_Del_p.376_377QQ>Q	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	439	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AACTTGGAgttgctgctgctgct	0.562													---	431	---	---	9	---					
PRKCD	5580	broad.mit.edu	37	3	53220653	53220653	+	Frame_Shift_Del	DEL	G	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr3:53220653delG	uc003dgl.3	+	13	1647	c.1294delG	c.(1294-1296)gggfs	p.G432fs	PRKCD_uc003dgm.3_Frame_Shift_Del_p.G432fs	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	432	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of MAP kinase activity|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GTTCCTCAACGGGGGGGACCT	0.602													---	1811	---	---	10	---					
CACNA1D	776	broad.mit.edu	37	3	53529193	53529195	+	Translation_Start_Site	DEL	GAT	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr3:53529193_53529195delGAT	uc003dgv.4	+	0					CACNA1D_uc003dgu.4_Start_Codon_Del|CACNA1D_uc003dgy.4_Start_Codon_Del	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	aatgttcgtGgatgatgatgatg	0.581													---	525	---	---	13	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr3:100148586_100148588delGAT	uc003dtx.4	+	1	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del		NM_001085451	NP_001078920	A1A4G5	LNP1_HUMAN	Homo sapiens leukemia NUP98 fusion partner 1 (LNP1), mRNA.	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507													---	1167	---	---	11	---					
MUC20	200958	broad.mit.edu	37	3	195447912	195447914	+	In_Frame_Del	DEL	TTC	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr3:195447912_195447914delTTC	uc010hzo.3	+	0	160_162	c.34_36delTTC	c.(34-36)ttcdel	p.F14del		NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA.	14					protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCTGCCCCTTTTCTTCTTCTGCT	0.611													---	26	---	---	21	---					
FGFRL1	53834	broad.mit.edu	37	4	1019055	1019056	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:1019055_1019056delCA	uc003gce.3	+	6	1596_1597	c.1435_1436delCA	c.(1435-1437)cacfs	p.H479fs	FGFRL1_uc003gcf.3_Frame_Shift_Del_p.H479fs|FGFRL1_uc003gcg.3_Frame_Shift_Del_p.H479fs|FGFRL1_uc010ibo.3_Frame_Shift_Del_p.H479fs	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	479	His-rich.				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			cacagacatccacacacacaca	0.584													---	77	---	---	13	---					
LIMCH1	22998	broad.mit.edu	37	4	41648508	41648509	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:41648508_41648509delGA	uc003gvz.4	+	16	2835_2836	c.2418_2419delGA	c.(2416-2421)cggagafs	p.R806fs	LIMCH1_uc003gwe.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvu.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvv.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvw.4_Frame_Shift_Del_p.R421fs|LIMCH1_uc003gvx.4_Frame_Shift_Del_p.R409fs|LIMCH1_uc003gvy.4_Frame_Shift_Del_p.R250fs|LIMCH1_uc003gwa.4_Frame_Shift_Del_p.R262fs|LIMCH1_uc011byu.2_Frame_Shift_Del_p.R255fs|LIMCH1_uc003gwc.4_Frame_Shift_Del_p.R267fs|LIMCH1_uc003gwd.4_Frame_Shift_Del_p.R255fs|LIMCH1_uc011byv.2_Frame_Shift_Del_p.R172fs	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	421	Glu-rich.				actomyosin structure organization		actin binding|zinc ion binding	p.E810fs*3(1)|p.E425fs*3(1)		central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TTAGAGAGCGGAGAGAGAGAGA	0.465													---	629	---	---	9	---					
INTU	27152	broad.mit.edu	37	4	128564917	128564917	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:128564917delA	uc003ifk.2	+	1	491	c.388delA	c.(388-390)aaafs	p.K130fs	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	130										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GCGCTGCAATAAAAAAAATAG	0.358													---	433	---	---	7	---					
ELMOD2	255520	broad.mit.edu	37	4	141446575	141446575	+	Splice_Site	DEL	A	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:141446575delA	uc003iik.3	+	2	124	c.-8_splice	c.e2-1			NM_153702	NP_714913	Q8IZ81	ELMD2_HUMAN	Homo sapiens ELMO/CED-12 domain containing 2 (ELMOD2), mRNA.						phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					CTCCTCCAGGAAAAAAAAATG	0.318													---	605	---	---	13	---					
DUX2	26583	broad.mit.edu	37	4	190989660	190989660	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr4:190989660delC	uc021xvp.1	+	0	794	c.754delC	c.(754-756)cccfs	p.P252fs	DUX4L4_uc021xvq.1_5'Flank	NM_012147	NP_036279			Homo sapiens double homeobox 2 (DUX2), mRNA.																		AACGGGGCTTCCCGCACCCCA	0.786													---	106	---	---	8	---					
PDZD2	23037	broad.mit.edu	37	5	32090059	32090061	+	In_Frame_Del	DEL	TCC	-	-	rs61744453	by1000genomes	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:32090059_32090061delTCC	uc003jhl.3	+	19	6893_6895	c.6505_6507delTCC	c.(6505-6507)tccdel	p.S2173del	PDZD2_uc003jhm.3_In_Frame_Del_p.S2173del	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2173	Ser-rich.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AAAACTGGCGTCCTCCTCCTCCT	0.527													---	796	---	---	11	---					
IK	3550	broad.mit.edu	37	5	140032593	140032594	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:140032593_140032594delGA	uc003lgq.3	+	4	378_379	c.268_269delGA	c.(268-270)gagfs	p.E90fs	IK_uc011czk.1_Frame_Shift_Del_p.E90fs|IK_uc021yen.1_Frame_Shift_Del_p.E31fs	NM_006083	NP_006074	Q13123	RED_HUMAN	Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA.	90					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAAATTGAGAGAGAGAGA	0.460													---	249	---	---	8	---					
RBM27	54439	broad.mit.edu	37	5	145647319	145647320	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr5:145647319_145647320insA	uc003lnz.4	+	14	2605_2606	c.2439_2440insA	c.(2437-2442)cttaaafs	p.L813fs	RBM27_uc003lny.2_Frame_Shift_Ins_p.L758fs	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	813					mRNA processing	cytoplasm|nuclear speck	RNA binding|nucleotide binding|zinc ion binding	p.K816fs*5(1)		NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGAAGTGCTTAAAAAAAAACA	0.351													---	333	---	---	15	---					
HIST1H4E	8367	broad.mit.edu	37	6	26204947	26204948	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:26204947_26204948insA	uc003ngy.3	+	0	75_76	c.75_76insA	c.(73-78)gataacfs	p.D25fs		NM_003545	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 1, H4e (HIST1H4E), mRNA.	25					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.N26I(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				TCCTGCGAGATAACATCCAGGG	0.584													---	470	---	---	29	---					
NKAPL	222698	broad.mit.edu	37	6	28227796	28227797	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:28227796_28227797insT	uc003nkt.3	+	0	699_700	c.647_648insT	c.(646-648)tctfs	p.S216fs	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	216	Lys-rich.									breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AATTCTGACTCTGATGATGATA	0.302													---	295	---	---	28	---					
MAS1L	116511	broad.mit.edu	37	6	29455156	29455157	+	Frame_Shift_Del	DEL	AC	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:29455156_29455157delAC	uc011dlq.2	-	0	523_524	c.523_524delGT	c.(523-525)gtcfs	p.V175fs		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	175						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGGGAAGAGGACACACACACAC	0.495													---	371	---	---	11	---					
CYP21A1P	1590	broad.mit.edu	37	6	31975223	31975224	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:31975223_31975224insT	uc021yve.1	+	4	1400_1401	c.838_839insT	c.(838-840)gttfs	p.V280fs				Q5ST44	Q5ST44_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene (CYP21A1P), non-coding RNA.	276							electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										CTGGGCCGTGGTTTTTTTTGCT	0.614													---	819	---	---	10	---					
FYN	2534	broad.mit.edu	37	6	111983042	111983042	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr6:111983042delT	uc003pvj.3	-	12	1854	c.1514delA	c.(1513-1515)aagfs	p.K505fs	FYN_uc003pvi.3_Frame_Shift_Del_p.K450fs|FYN_uc003pvk.3_Frame_Shift_Del_p.K505fs|FYN_uc003pvh.3_Frame_Shift_Del_p.K502fs	NM_002037	NP_002028	P06241	FYN_HUMAN	Homo sapiens FYN oncogene related to SRC, FGR, YES (FYN), transcript variant 1, mRNA.	505	Protein kinase.				T cell costimulation|T cell receptor signaling pathway|axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TTCAGGGTCCTTTTTCCAGCA	0.562													---	1167	---	---	7	---					
OGDH	4967	broad.mit.edu	37	7	44684936	44684936	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr7:44684936delT	uc003tln.3	+	2	392	c.233delT	c.(232-234)attfs	p.I78fs	OGDH_uc003tlm.3_Frame_Shift_Del_p.I78fs|OGDH_uc011kbx.2_Frame_Shift_Del_p.I78fs|OGDH_uc011kby.2_Intron|OGDH_uc003tlp.3_Frame_Shift_Del_p.I78fs|OGDH_uc011kbz.2_5'UTR|OGDH_uc003tlo.1_5'UTR	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	78					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.R81fs*19(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TCATGGGACATTTTTTTTCGC	0.577													---	846	---	---	14	---					
DTX2P1-UPK3BP1-PMS2P11	441263	broad.mit.edu	37	7	76610356	76610356	+	RNA	DEL	C	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr7:76610356delC	uc011kgn.1	+	0		c.218delC			DTX2P1-UPK3BP1-PMS2P11_uc003ufw.4_Non-coding_Transcript					Homo sapiens DTX2P1-UPK3BP1-PMS2P11 readthrough (non-protein coding) (DTX2P1-UPK3BP1-PMS2P11), non-coding RNA.																		CCCCCCAGCACCCCCCCCACA	0.647													---	522	---	---	7	---					
PCLO	27445	broad.mit.edu	37	7	82595385	82595385	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr7:82595385delT	uc003uhx.2	-	3	4008	c.3719delA	c.(3718-3720)aagfs	p.K1240fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.K1240fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1179					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGGGTTGGCTTTTTTTCTTC	0.383													---	1727	---	---	9	---					
KRIT1	889	broad.mit.edu	37	7	91870425	91870426	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr7:91870425_91870426insT	uc003ulr.1	-	4	1035_1036	c.143_144insA	c.(142-144)aagfs	p.K48fs	KRIT1_uc010lev.1_5'UTR|KRIT1_uc003ulq.1_Frame_Shift_Ins_p.K48fs|KRIT1_uc003uls.1_Frame_Shift_Ins_p.K48fs|KRIT1_uc003ult.1_Frame_Shift_Ins_p.K48fs|KRIT1_uc003ulu.1_Frame_Shift_Ins_p.K48fs|KRIT1_uc003ulv.1_Frame_Shift_Ins_p.K48fs	NM_004912	NP_919438	O00522	KRIT1_HUMAN	Homo sapiens KRIT1, ankyrin repeat containing (KRIT1), transcript variant 2, mRNA.	48					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTTCTTTCTCTTTTTTTTCTG	0.337													---	209	---	---	7	---					
TMEM229A	730130	broad.mit.edu	37	7	123672480	123672485	+	In_Frame_Del	DEL	TGCTGT	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr7:123672480_123672485delTGCTGT	uc011kob.2	-	0	1039_1044	c.573_578delACAGCA	c.(571-579)caacagcag>cag	p.191_193QQQ>Q	EU233817_uc011koc.2_Intron	NM_001136002	NP_001129474	B2RXF0	T229A_HUMAN	Homo sapiens transmembrane protein 229A (TMEM229A), mRNA.	191						host cell nucleus|integral to membrane	sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(3)	6						ctgctgctgctgctgttgctgctgcc	0.728													---	6	---	---	4	---					
RBM28	55131	broad.mit.edu	37	7	127963635	127963642	+	Frame_Shift_Del	DEL	GCACGAAT	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr7:127963635_127963642delGCACGAAT	uc003vmp.2	-	12	1457_1464	c.1342_1349delATTCGTGC	c.(1342-1350)attcgtgctfs	p.I448fs	RBM28_uc011koj.1_Frame_Shift_Del_p.I307fs	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	448					RNA splicing|mRNA processing	Golgi apparatus|nucleolus|spliceosomal complex	RNA binding|nucleotide binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTTCGTCCCAGCACGAATCACTGCAGAA	0.471													---	571	---	---	26	---					
EXOC4	60412	broad.mit.edu	37	7	133160210	133160210	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr7:133160210delA	uc003vrk.3	+	7	1346	c.1311delA	c.(1309-1311)ccafs	p.P437fs	EXOC4_uc011kpo.2_Frame_Shift_Del_p.P336fs|EXOC4_uc003vri.3_Frame_Shift_Del_p.P437fs|EXOC4_uc003vrj.3_Frame_Shift_Del_p.P437fs	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA.	437					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				CTCAAAGGCCAAAAAATTCTC	0.373													---	632	---	---	7	---					
XRCC2	7516	broad.mit.edu	37	7	152346220	152346220	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr7:152346220delA	uc003wld.3	-	2	436	c.350delT	c.(349-351)ttgfs	p.L117fs		NM_005431	NP_005422	O43543	XRCC2_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 2 (XRCC2), mRNA.	117					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity	p.V118fs*5(1)		NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		GCAGTACACCAAAAAAAATCT	0.393								Homologous recombination					---	512	---	---	7	---					
RAB11FIP1	80223	broad.mit.edu	37	8	37728932	37728933	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr8:37728932_37728933insT	uc003xkm.2	-	3	3443_3444	c.3387_3388insA	c.(3385-3390)aaagccfs	p.K1129fs	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_Frame_Shift_Ins_p.K458fs|RAB11FIP1_uc003xko.1_Frame_Shift_Ins_p.K458fs|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	1129					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCTGCTGTGGCTTTTTTTTGAG	0.545											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	947	---	---	10	---					
KAT6A	7994	broad.mit.edu	37	8	41798420	41798422	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr8:41798420_41798422delCTC	uc010lxb.3	-	15	3521_3523	c.2977_2979delGAG	c.(2977-2979)gagdel	p.E993del	KAT6A_uc010lxc.3_In_Frame_Del_p.E993del|KAT6A_uc003xon.4_In_Frame_Del_p.E993del	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	993	Poly-Glu.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										GGCTTTCCGGCTCCTCCTCCTCC	0.567													---	730	---	---	8	---					
TOX	9760	broad.mit.edu	37	8	59750796	59750798	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr8:59750796_59750798delCTT	uc003xtw.1	-	4	987_989	c.766_768delAAG	c.(766-768)aagdel	p.K256del		NM_014729	NP_055544	O94900	TOX_HUMAN	Homo sapiens thymocyte selection-associated high mobility group box (TOX), mRNA.	256						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CATTGGGATCCTTCTTCTTCTTC	0.453													---	742	---	---	9	---					
BHLHE22	27319	broad.mit.edu	37	8	65494020	65494021	+	In_Frame_Ins	INS	-	GCA	GCA	rs34265378		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr8:65494020_65494021insGCA	uc003xvi.3	+	0	1226_1227	c.673_674insGCA	c.(673-675)ggc>gGCAgc	p.234_235insS	LOC401463_uc003xvh.3_Intron	NM_152414	NP_689627	Q8NFJ8	BHE22_HUMAN	Homo sapiens basic helix-loop-helix family, member e22 (BHLHE22), mRNA.	234	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S234delS(2)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						cggcagcggcggcagcagcagc	0.718													---	19	---	---	13	---					
MYBL1	4603	broad.mit.edu	37	8	67488452	67488453	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr8:67488452_67488453insT	uc003xwj.3	-	9	1666_1667	c.1259_1260insA	c.(1258-1260)aacfs	p.N420fs	MYBL1_uc003xwl.3_Frame_Shift_Ins_p.N420fs|MYBL1_uc003xwk.3_Frame_Shift_Ins_p.N419fs	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 1 (MYBL1), transcript variant 1, mRNA.	420	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CATTACAAGTGTTTTTTTTCCC	0.406													---	876	---	---	11	---					
CSMD3	114788	broad.mit.edu	37	8	113241029	113241029	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr8:113241029delA	uc003ynu.3	-	69	11079	c.10920delT	c.(10918-10920)tttfs	p.F3640fs	CSMD3_uc003yns.3_Frame_Shift_Del_p.F2842fs|CSMD3_uc003ynt.3_Frame_Shift_Del_p.F3600fs|CSMD3_uc011lhx.2_Frame_Shift_Del_p.F3471fs	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3640						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATATAAGTGCAAAAAAAGGCA	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			---	305	---	---	7	---					
WDR67	93594	broad.mit.edu	37	8	124140521	124140521	+	Splice_Site	DEL	T	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr8:124140521delT	uc003ypp.2	+	14	1975	c.1885_splice	c.e14-1	p.F629_splice	WDR67_uc011lig.2_Splice_Site_p.F629_splice|WDR67_uc011lih.2_Splice_Site_p.F519_splice|WDR67_uc003ypq.2_Splice_Site|WDR67_uc003yps.2_Intron|WDR67_uc003ypu.2_Splice_Site_p.F86_splice	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.	629						centrosome	Rab GTPase activator activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TTTCTTACAGTTTTTTTTTCA	0.323													---	301	---	---	7	---					
CDKN2A	1029	broad.mit.edu	37	9	21971003	21971004	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr9:21971003_21971004insA	uc003zpk.3	-	1	660_661	c.354_355insT	c.(352-357)gctgagfs	p.A118fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Frame_Shift_Ins_p.A118fs|CDKN2A_uc003zpl.3_Frame_Shift_Ins_p.*133fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	118			A -> T (in CMM2).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.E119*(7)|p.E119Q(4)|p.A118fs*10(2)|p.A118fs*27(2)|p.L117fs*29(1)|p.A118V(1)|p.0(1)|p.*174L(1)|p.A118P(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCCAGCTCCTCAGCCAGGTCCA	0.728		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			---	169	---	---	30	---					
ASTN2	23245	broad.mit.edu	37	9	119976989	119976991	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr9:119976989_119976991delCAG	uc004bjt.2	-	2	762_764	c.661_663delCTG	c.(661-663)ctgdel	p.L221del	ASTN2_uc022bml.1_5'UTR|ASTN2_uc022bmm.1_5'UTR	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	221						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CGGTGAACACCAGCAGCAGCAGC	0.601													---	269	---	---	8	---					
ANK3	288	broad.mit.edu	37	10	61828745	61828747	+	In_Frame_Del	DEL	GTG	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr10:61828745_61828747delGTG	uc001jky.3	-	36	12230_12232	c.11892_11894delCAC	c.(11890-11895)accact>act	p.3964_3965TT>T	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3964	Thr-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ggtggtggcagtggtggtggtgg	0.498													---	567	---	---	9	---					
CCAR1	55749	broad.mit.edu	37	10	70509285	70509286	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr10:70509285_70509286delGA	uc001joo.3	+	9	1080_1081	c.961_962delGA	c.(961-963)gagfs	p.E321fs	CCAR1_uc001jol.1_Non-coding_Transcript|CCAR1_uc001jom.1_Frame_Shift_Del_p.E126fs|CCAR1_uc009xpx.1_Frame_Shift_Del_p.E295fs|CCAR1_uc001jon.1_Frame_Shift_Del_p.E267fs|CCAR1_uc010qiz.1_Frame_Shift_Del_p.E306fs|CCAR1_uc010qja.1_Frame_Shift_Del_p.E306fs|CCAR1_uc010qjb.2_Non-coding_Transcript	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	321	Arg-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						TTTCAGTCGTGAGAGAGAGAGA	0.391													---	243	---	---	8	---					
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr10:81070787_81070789delCTC	uc001kaf.2	+	23	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_uc001kag.2_In_Frame_Del_p.P862del|ZMIZ1_uc010qlq.1_Intron	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	986	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635													---	810	---	---	7	---					
C10orf82	143379	broad.mit.edu	37	10	118424338	118424338	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr10:118424338delT	uc001lcr.3	-	3	450	c.395delA	c.(394-396)aacfs	p.N132fs	C10orf82_uc001lcs.1_3'UTR	NM_144661	NP_653262	Q8WW14	CJ082_HUMAN	Homo sapiens chromosome 10 open reading frame 82 (C10orf82), mRNA.	132										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CTTGTAGCAGTTTTTGGCCAT	0.567													---	776	---	---	8	---					
TSPAN4	7106	broad.mit.edu	37	11	864443	864445	+	In_Frame_Del	DEL	CTG	-	-	rs61867552	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr11:864443_864445delCTG	uc001lsd.1	+	4	471_473	c.262_264delCTG	c.(262-264)ctgdel	p.L92del	TSPAN4_uc001lse.1_In_Frame_Del_p.L28del|TSPAN4_uc001lsf.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsg.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsh.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsi.1_In_Frame_Del_p.L92del|TSPAN4_uc001lsj.1_In_Frame_Del_p.L92del	NM_003271	NP_001020410	O14817	TSN4_HUMAN	Homo sapiens tetraspanin 4 (TSPAN4), transcript variant 5, mRNA.	92					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACAGTTCTTCCTGCTGCTGCTGC	0.650													---	549	---	---	12	---					
NUP98	4928	broad.mit.edu	37	11	3720389	3720389	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr11:3720389delT	uc001lyh.3	-	24	4353	c.3932delA	c.(3931-3933)aacfs	p.N1311fs	NUP98_uc001lyi.3_Frame_Shift_Del_p.N1311fs|NUP98_uc001lyg.3_Frame_Shift_Del_p.N276fs	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	1328					DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CACAGGGCTGTTTTTTTGGGT	0.512			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML								---	1195	---	---	8	---					
SPON1	10418	broad.mit.edu	37	11	14276276	14276277	+	Splice_Site	DEL	GT	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr11:14276276_14276277delGT	uc001mle.3	+	9	1357	c.1089_splice	c.e9+1	p.E363_splice		NM_006108	NP_006099	Q9HCB6	SPON1_HUMAN	Homo sapiens spondin 1, extracellular matrix protein (SPON1), mRNA.	364	Spondin.				cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GACCTATGAGGTGTGTGTGTGT	0.594													---	256	---	---	11	---					
RASGRP2	10235	broad.mit.edu	37	11	64507637	64507638	+	Splice_Site	INS	-	G	G			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr11:64507637_64507638insG	uc009ypu.3	-	6	599	c.372_splice	c.e6-1	p.V124_splice	RASGRP2_uc001oat.3_Frame_Shift_Ins_p.P25fs|RASGRP2_uc001oau.3_Splice_Site|RASGRP2_uc009ypv.3_Splice_Site_p.V124_splice|RASGRP2_uc009ypw.3_Splice_Site_p.V124_splice	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	124	N-terminal Ras-GEF.				Ras protein signal transduction|platelet activation|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TAGGTAGGGCTGGGGGGGCAGG	0.569													---	450	---	---	7	---					
SIK3	23387	broad.mit.edu	37	11	116729011	116729013	+	In_Frame_Del	DEL	TGT	-	-	rs539858	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr11:116729011_116729013delTGT	uc001ppy.3	-	19	2886_2888	c.2850_2852delACA	c.(2848-2853)caacag>cag	p.950_951QQ>Q	SIK3_uc001ppz.3_In_Frame_Del_p.789_790QQ>Q|SIK3_uc001pqa.3_In_Frame_Del_p.890_891QQ>Q|SIK3_uc001ppw.3_In_Frame_Del_p.307_308QQ>Q|SIK3_uc001ppx.3_In_Frame_Del_p.328_329QQ>Q|SIK3_uc001pqb.3_In_Frame_Del_p.253_254QQ>Q	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	950	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ctgttgctgctgttgctgctgct	0.596													---	200	---	---	8	---					
CBL	867	broad.mit.edu	37	11	119077232	119077233	+	In_Frame_Ins	INS	-	CAC	CAC			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr11:119077232_119077233insCAC	uc001pwe.3	+	0	243_244	c.105_106insCAC	c.(103-108)insCAC	p.42_43insH		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	42					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	SH3 domain binding|calcium ion binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CCTTCCAGCCGcaccaccacca	0.673			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				---	17	---	---	7	---					
C1QTNF5	114902	broad.mit.edu	37	11	119210190	119210190	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr11:119210190delC	uc001pwj.2	-	14	3379	c.583delG	c.(583-585)gccfs	p.A195fs		NM_015645	NP_056460	Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	147	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CTCACCATGGCCCCCCCCGAG	0.587													---	542	---	---	7	---					
ATN1	1822	broad.mit.edu	37	12	7045880	7045885	+	In_Frame_Del	DEL	CAGCAA	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr12:7045880_7045885delCAGCAA	uc001qrw.1	+	4	1687_1692	c.1450_1455delCAGCAA	c.(1450-1455)cagcaadel	p.QQ500del	ATN1_uc001qrx.1_In_Frame_Del_p.QQ500del|ATN1_uc001qry.1_In_Frame_Del_p.QQ485del	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	500	Poly-Gln.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCATCACCACcagcaacagcaacagc	0.626													---	1305	---	---	7	---					
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	-	-	rs66529359	by1000genomes	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	uc001sau.1	-	8	1715_1735	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tatggctccggaggtagcagctac>tac	p.552_559YGSGGSSY>Y	KRT1_uc001sav.1_Splice_Site_p.G556_splice	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.S557_G563delSSYGSGG(6)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688													---	55	---	---	25	---					
MARS	4141	broad.mit.edu	37	12	57883053	57883053	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr12:57883053delT	uc001sog.3	+	2	358	c.204delT	c.(202-204)tatfs	p.Y68fs	ARHGAP9_uc001sod.3_5'Flank|ARHGAP9_uc001soe.1_5'Flank|MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Intron|MARS_uc010srq.1_5'UTR	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	68					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TGGGCAGATATTTTTTTTTGT	0.488													---	326	---	---	8	---					
ZFC3H1	196441	broad.mit.edu	37	12	72057256	72057258	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr12:72057256_72057258delGCT	uc001swo.2	-	0	492_494	c.133_135delAGC	c.(133-135)agcdel	p.S45del	ZFC3H1_uc010sts.2_In_Frame_Del_p.S45del|ZFC3H1_uc001swp.3_In_Frame_Del_p.S45del|THAP2_uc001swq.3_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	45	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCCGCCGCCGCTGCTGCTGCTG	0.631											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	728	---	---	10	---					
TMEM19	55266	broad.mit.edu	37	12	72094757	72094757	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr12:72094757delT	uc001sws.3	+	5	1576	c.993delT	c.(991-993)ggtfs	p.G331fs		NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	331						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CTGCTTGGGGTTTTTGGCCCA	0.433													---	877	---	---	7	---					
TPTE2	93492	broad.mit.edu	37	13	20041394	20041394	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr13:20041394delA	uc001umd.3	-	7	694	c.483delT	c.(481-483)tttfs	p.F161fs	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Intron|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	161						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACTTAATGTCAAAAAAAATGT	0.303													---	303	---	---	7	---					
KIAA1704	55425	broad.mit.edu	37	13	45580365	45580367	+	In_Frame_Del	DEL	GAT	-	-	rs138421508		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr13:45580365_45580367delGAT	uc001uzq.3	+	2	353_355	c.250_252delGAT	c.(250-252)gatdel	p.D88del	KIAA1704_uc010tfo.1_Non-coding_Transcript|KIAA1704_uc001uzr.1_In_Frame_Del_p.D88del|KIAA1704_uc001uzs.3_5'UTR|KIAA1704_uc001uzt.3_5'UTR	NM_018559	NP_061029	Q8IXQ4	K1704_HUMAN	Homo sapiens KIAA1704 (KIAA1704), mRNA.	88	Poly-Asp.									breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|prostate(2)|skin(1)	12		Lung NSC(96;0.00143)|Prostate(109;0.0137)|Breast(139;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.133)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000313)|BRCA - Breast invasive adenocarcinoma(63;0.126)		Ggatgatgacgatgatgatgatg	0.335													---	919	---	---	7	---					
DIS3	22894	broad.mit.edu	37	13	73337684	73337684	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr13:73337684delT	uc001vix.4	-	15	2406	c.2032delA	c.(2032-2034)attfs	p.I678fs	DIS3_uc001viy.4_Frame_Shift_Del_p.I648fs|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	678					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TCCTCATGAATTTTTTTTGCA	0.358										Multiple Myeloma(4;0.011)			---	314	---	---	7	---					
PIBF1	10464	broad.mit.edu	37	13	73357634	73357634	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr13:73357634delA	uc001vjc.3	+	1	332	c.27delA	c.(25-27)tcafs	p.S9fs	PIBF1_uc010aeo.1_Non-coding_Transcript|PIBF1_uc001vjb.3_Frame_Shift_Del_p.S9fs|PIBF1_uc010aep.3_Intron|DIS3_uc001viy.4_5'Flank|DIS3_uc001vix.4_5'Flank|DIS3_uc001viz.3_5'Flank	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.	9						centrosome		p.E8K(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CAAAGGAGTCAAAAAAAGTGA	0.303													---	361	---	---	7	---					
MMP14	4323	broad.mit.edu	37	14	23312996	23312996	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:23312996delA	uc001whc.3	+	5	1162	c.928delA	c.(928-930)aaafs	p.K310fs		NM_004995	NP_004986	P50281	MMP14_HUMAN	Homo sapiens matrix metallopeptidase 14 (membrane-inserted) (MMP14), mRNA.	310						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TGATAAACCCAAAAACCCCAC	0.577													---	939	---	---	7	---					
ACIN1	22985	broad.mit.edu	37	14	23528502	23528503	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:23528502_23528503delTC	uc001wit.4	-	18	4208_4209	c.3880_3881delGA	c.(3880-3882)gaafs	p.E1294fs	CDH24_uc001wil.3_5'Flank|CDH24_uc010akf.3_5'Flank|CDH24_uc001win.3_5'Flank|ACIN1_uc001wio.4_Non-coding_Transcript|ACIN1_uc001wip.4_Frame_Shift_Del_p.E536fs|ACIN1_uc001wiq.4_Frame_Shift_Del_p.E536fs|ACIN1_uc001wir.4_Frame_Shift_Del_p.E567fs|ACIN1_uc001wis.4_Frame_Shift_Del_p.E975fs|ACIN1_uc010akg.3_Frame_Shift_Del_p.E1281fs|ACIN1_uc010tnj.2_Frame_Shift_Del_p.E1254fs	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	1294	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ccgctccctttctctctctctc	0.629											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	296	---	---	9	---					
BAZ1A	11177	broad.mit.edu	37	14	35331422	35331423	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:35331422_35331423insT	uc001wsk.3	-	2	787_788	c.219_220insA	c.(217-222)aaagcafs	p.K73fs	BAZ1A_uc001wsl.3_Frame_Shift_Ins_p.K73fs|BAZ1A_uc001wsm.1_Frame_Shift_Ins_p.K73fs	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	73	Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		TTCTGTCTTGCTTTTTTTTCTG	0.426													---	976	---	---	13	---					
CTAGE5	4253	broad.mit.edu	37	14	39746242	39746243	+	Frame_Shift_Ins	INS	-	T	T	rs75842899	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:39746242_39746243insT	uc001wvi.4	+	1	504_505	c.168_169insT	c.(166-171)ctctttfs	p.L56fs	CTAGE5_uc010tqe.1_Frame_Shift_Ins_p.L44fs|CTAGE5_uc001wuy.4_5'UTR|CTAGE5_uc001wuz.4_Frame_Shift_Ins_p.L44fs|CTAGE5_uc001wva.4_Frame_Shift_Ins_p.L27fs|CTAGE5_uc001wvb.4_Frame_Shift_Ins_p.L27fs|CTAGE5_uc001wvc.4_Frame_Shift_Ins_p.L27fs|CTAGE5_uc001wve.1_Frame_Shift_Ins_p.L27fs|CTAGE5_uc001wvf.4_Intron|CTAGE5_uc001wvg.4_Frame_Shift_Ins_p.L56fs|CTAGE5_uc001wvh.4_Frame_Shift_Ins_p.L56fs|CTAGE5_uc010amz.3_5'UTR|CTAGE5_uc001wvj.4_Frame_Shift_Ins_p.L27fs	NM_001247989	NP_001234918	O15320	CTGE5_HUMAN	Homo sapiens CTAGE family, member 5 (CTAGE5), transcript variant 6, mRNA.	56							enzyme activator activity|protein binding		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TTGCTGTTCTCTTTTTTTTGTG	0.371													---	386	---	---	9	---					
C14orf43	91748	broad.mit.edu	37	14	74205926	74205928	+	In_Frame_Del	DEL	CTG	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:74205926_74205928delCTG	uc010tud.1	-	0	1031_1033	c.784_786delCAG	c.(784-786)cagdel	p.Q262del	C14orf43_uc001xot.3_In_Frame_Del_p.Q262del|C14orf43_uc001xou.3_In_Frame_Del_p.Q262del|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	262	Gln-rich.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GTAGGgctgcctgctgctgctgc	0.650													---	155	---	---	7	---					
FOXN3	1112	broad.mit.edu	37	14	89629149	89629151	+	In_Frame_Del	DEL	GAG	-	-	rs139532153		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:89629149_89629151delGAG	uc001xxo.4	-	6	1217_1219	c.1080_1082delCTC	c.(1078-1083)tcctca>tca	p.360_361SS>S	FOXN3_uc001xxn.4_In_Frame_Del_p.338_339SS>S|FOXN3_uc010atk.3_In_Frame_Del_p.338_339SS>S	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.	360					DNA damage checkpoint|G2 phase of mitotic cell cycle|embryo development|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCGTCGGCTGAGGAGGAGGAGG	0.650													---	223	---	---	7	---					
BTBD7	55727	broad.mit.edu	37	14	93761192	93761193	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr14:93761192_93761193insT	uc001ybo.3	-	2	499_500	c.173_174insA	c.(172-174)aagfs	p.K58fs	BTBD7_uc010aur.3_5'UTR|BTBD7_uc010two.2_5'UTR|BTBD7_uc001ybp.3_Intron|BTBD7_uc001ybq.4_5'UTR|BTBD7_uc001ybr.3_Frame_Shift_Ins_p.K58fs	NM_001002860	NP_001002860	Q9P203	BTBD7_HUMAN	Homo sapiens BTB (POZ) domain containing 7 (BTBD7), transcript variant 1, mRNA.	58								p.K58fs*44(3)|p.R59fs*14(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		CAGAGGTTCTCTTTTTTTTGTC	0.441													---	788	---	---	7	---					
C15orf24	56851	broad.mit.edu	37	15	34393991	34393993	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr15:34393991_34393993delAGC	uc001zhm.3	-	0	61_63	c.48_50delGCT	c.(46-51)ctgcta>cta	p.16_17LL>L	PGBD4_uc001zho.3_5'Flank	NM_020154	NP_064539	Q9NPA0	CO024_HUMAN	Homo sapiens chromosome 15 open reading frame 24 (C15orf24), mRNA.	16						cytoplasm|integral to membrane	carbohydrate binding|carboxypeptidase activity|purine nucleotide binding			large_intestine(1)|lung(5)|skin(1)	7		all_lung(180;1.76e-08)		all cancers(64;2.02e-17)|GBM - Glioblastoma multiforme(113;2.15e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)		ATCCCCCGATAGCAGCAGCAGCA	0.665													---	828	---	---	7	---					
MAPKBP1	23005	broad.mit.edu	37	15	42105892	42105892	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr15:42105892delT	uc001zok.4	+	9	1197	c.911delT	c.(910-912)cttfs	p.L304fs	MAPKBP1_uc010bci.3_Frame_Shift_Del_p.L298fs|MAPKBP1_uc010udb.2_Frame_Shift_Del_p.L186fs|MAPKBP1_uc001zoj.4_Frame_Shift_Del_p.L298fs|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Intron	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	304										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ACCGTGCGCCTTTTCAACCCC	0.587													---	818	---	---	7	---					
MTFMT	123263	broad.mit.edu	37	15	65312612	65312613	+	Splice_Site	INS	-	A	A			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr15:65312612_65312613insA	uc002aof.4	-	5	672	c.646_splice	c.e5-1	p.L216_splice		NM_139242	NP_640335	Q96DP5	FMT_HUMAN	Homo sapiens mitochondrial methionyl-tRNA formyltransferase (MTFMT), nuclear gene encoding mitochondrial protein, mRNA.	216						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	TGAAATGAGCTACAAAAAAAAA	0.381													---	87	---	---	9	---					
RAB40C	57799	broad.mit.edu	37	16	677579	677580	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr16:677579_677580insC	uc021szt.1	+	6	1025_1026	c.803_804insC	c.(802-804)agcfs	p.S268fs	RAB40C_uc021szu.1_Frame_Shift_Ins_p.S268fs|RAB40C_uc021szv.1_Frame_Shift_Ins_p.S268fs|RAB40C_uc002chq.3_Frame_Shift_Ins_p.S249fs|RAB40C_uc002chr.3_Frame_Shift_Ins_p.S268fs|AK128777_uc002chs.1_5'Flank	NM_001172663	NP_066991	Q96S21	RB40C_HUMAN	Homo sapiens RAB40C, member RAS oncogene family (RAB40C), transcript variant 1, mRNA.	268					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.Q271fs*7(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				CCACCCCAGAGCCCCCCCCAGA	0.678													---	377	---	---	9	---					
NTAN1	123803	broad.mit.edu	37	16	15131930	15131931	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr16:15131930_15131931insT	uc002ddd.3	-	9	895_896	c.890_891insA	c.(889-891)aatfs	p.N297fs	PDXDC1_uc002ddc.3_Intron|NTAN1_uc010uzo.2_Frame_Shift_Ins_p.N192fs	NM_173474	NP_775745	Q96AB6	NTAN1_HUMAN	Homo sapiens N-terminal asparagine amidase (NTAN1), mRNA.	297						cytoplasm				endometrium(1)|large_intestine(4)|lung(3)	8						AGCCATCTTCATTTTTTTTGTA	0.386													---	559	---	---	7	---					
C16orf7	9605	broad.mit.edu	37	16	89778932	89778933	+	Splice_Site	INS	-	G	G	rs143123169	by1000genomes	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr16:89778932_89778933insG	uc002fom.1	-	6	669	c.544_splice	c.e6-1	p.T182_splice	C16orf7_uc002fol.1_Splice_Site_p.T112_splice|LOC100128881_uc002fon.1_Intron	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	182					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		AGAGAGGGTCTGGGGGGGGAGG	0.668													---	339	---	---	10	---					
TP53	7157	broad.mit.edu	37	17	7577035	7577036	+	Frame_Shift_Ins	INS	-	G	G	rs72661120		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr17:7577035_7577036insG	uc002gim.2	-	7	1096_1097	c.902_903insC	c.(901-903)ccafs	p.P301fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Ins_p.P301fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Ins_p.P169fs|TP53_uc010cnf.1_Frame_Shift_Ins_p.P169fs|TP53_uc002gii.1_Frame_Shift_Ins_p.P169fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P301fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.P301fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P301fs|DL476366_uc021tpf.1_5'Flank|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.	301	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P301fs*44(11)|p.0?(8)|p.P300L(6)|p.G302fs*4(5)|p.P301fs*5(4)|p.P301P(4)|p.P301S(3)|p.P300S(3)|p.?(3)|p.P300A(2)|p.H296_S303delHHELPPGS(2)|p.P301_S303delPGS(2)|p.L265_K305del41(2)|p.P301Q(2)|p.P301L(2)|p.E298_P301delELPP(2)|p.P300P(1)|p.P300fs*44(1)|p.P300R(1)|p.G293fs*1(1)|p.P300fs*6(1)|p.L299fs*2(1)|p.P301fs*45(1)|p.P301fs*?(1)|p.P301T(1)|p.P301A(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)		TAGTGCTCCCTGGGGGCAGCTC	0.559		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)			---	393	---	---	69	---					
MYH10	4628	broad.mit.edu	37	17	8415820	8415822	+	In_Frame_Del	DEL	TTC	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr17:8415820_8415822delTTC	uc002glm.3	-	23	2995_2997	c.2899_2901delGAA	c.(2899-2901)gaadel	p.E967del	MYH10_uc002gll.3_In_Frame_Del_p.E936del|MYH10_uc010cnx.3_In_Frame_Del_p.E945del	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	936					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTTGGTTTCTTTCTTCTTCTTCT	0.350													---	284	---	---	8	---					
WDR16	146845	broad.mit.edu	37	17	9503387	9503389	+	In_Frame_Del	DEL	GAT	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr17:9503387_9503389delGAT	uc010coc.3	+	6	899_901	c.670_672delGAT	c.(670-672)gatdel	p.D227del	WDR16_uc002gly.3_In_Frame_Del_p.D217del|WDR16_uc002glz.3_In_Frame_Del_p.D149del			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	217						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TCTTCAGGTGGATGATGATGATA	0.502													---	579	---	---	7	---					
DHRS7B	25979	broad.mit.edu	37	17	21094331	21094333	+	In_Frame_Del	DEL	GAA	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr17:21094331_21094333delGAA	uc002gyo.3	+	6	887_889	c.843_845delGAA	c.(841-846)gggaag>ggg	p.K285del		NM_015510	NP_056325	Q6IAN0	DRS7B_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7B (DHRS7B), mRNA.	285						integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						CTGCTGTGGGGAAGAAGAAGAAA	0.507													---	966	---	---	7	---					
KIAA0100	9703	broad.mit.edu	37	17	26971123	26971123	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr17:26971123delA	uc002hbu.3	-	1	254	c.151delT	c.(151-153)tggfs	p.W51fs	KIAA0100_uc002hbv.3_Frame_Shift_Del_p.W51fs|KIAA0100_uc010crr.2_5'UTR	NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	51						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TTCTGGATCCAAAAAAAGCGG	0.478											OREG0024280	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	608	---	---	12	---					
SUPT6H	6830	broad.mit.edu	37	17	27001303	27001305	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr17:27001303_27001305delGAG	uc010crt.3	+	3	304_306	c.112_114delGAG	c.(112-114)gagdel	p.E43del	SUPT6H_uc002hby.3_In_Frame_Del_p.E43del	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	43	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|hydrolase activity, acting on ester bonds|sequence-specific DNA binding transcription factor activity	p.E42D(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCTTCCAGATGAGGAGGAGGAGG	0.453													---	273	---	---	8	---					
NUFIP2	57532	broad.mit.edu	37	17	27620990	27620992	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr17:27620990_27620992delGCT	uc002hdy.4	-	0	175_177	c.86_88delAGC	c.(85-90)cagccg>ccg	p.Q29del	NUFIP2_uc002hdx.4_In_Frame_Del_p.Q29del	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.	29	His-rich.					nucleus|polysomal ribosome	RNA binding|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			tggtggtgcggctgctgctgctg	0.591													---	397	---	---	7	---					
KRTAP9-1	728318	broad.mit.edu	37	17	39346425	39346427	+	In_Frame_Del	DEL	GTG	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr17:39346425_39346427delGTG	uc021txf.1	+	0	287_289	c.287_289delGTG	c.(286-291)tgtggc>tgc	p.G97del	KRTAP4-1_uc010cxm.1_Intron	NM_001190460	NP_001177389	A8MXZ3	KRA91_HUMAN	Homo sapiens keratin associated protein 9-1 (KRTAP9-1), mRNA.	97	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament				breast(1)|lung(3)	4						TCCAGCTGCTGTGGCCAAACCAG	0.606													---	133	---	---	8	---					
CDC27	996	broad.mit.edu	37	17	45219612	45219612	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr17:45219612delA	uc002ile.4	-	10	1506	c.1379delT	c.(1378-1380)ctafs	p.L460fs	CDC27_uc002ild.4_Frame_Shift_Del_p.L454fs|CDC27_uc002ilf.4_Frame_Shift_Del_p.L454fs|CDC27_uc010wkp.2_Frame_Shift_Del_p.L393fs|CDC27_uc010wkq.1_Intron	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	454				Missing (in Ref. 1; AAA60471).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TGCTTTTTGTAGATTAAAGGC	0.308													---	147	---	---	13	---					
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr18:12986927_12986929delTCC	uc002krq.3	+	8	1275_1277	c.1137_1139delTCC	c.(1135-1140)cttcct>ctt	p.P385del	SEH1L_uc002krr.3_3'UTR	NM_001013437	NP_001013455	Q96EE3	SEH1_HUMAN	Homo sapiens SEH1-like (S. cerevisiae) (SEH1L), transcript variant 1, mRNA.	0					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mRNA transport|mitotic metaphase plate congression|mitotic prometaphase|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522													---	292	---	---	7	---					
RTTN	25914	broad.mit.edu	37	18	67697248	67697249	+	Splice_Site	INS	-	T	T			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr18:67697248_67697249insT	uc002lkp.2	-	42	5813	c.5745_splice	c.e42+1	p.K1915_splice	RTTN_uc002lko.2_Splice_Site|RTTN_uc010xfb.1_Splice_Site_p.K1003_splice|RTTN_uc010dqp.2_Splice_Site_p.K167_splice	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1915							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AGAATGTTACCTTTTTTTTCAA	0.401													---	483	---	---	8	---					
TNFSF9	8744	broad.mit.edu	37	19	6531149	6531151	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:6531149_6531151delGCT	uc002mfh.2	+	0	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	41	Poly-Leu.				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768													---	271	---	---	7	---					
ZNF358	140467	broad.mit.edu	37	19	7585344	7585370	+	In_Frame_Del	DEL	GCCGCGGCCGCTGCAGCTGCAGCAGCG	-	-	rs71752719		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:7585344_7585370delGCCGCGGCCGCTGCAGCTGCAGCAGCG	uc002mgn.2	+	1	1386_1412	c.1216_1242delGCCGCGGCCGCTGCAGCTGCAGCAGCG	c.(1216-1242)gccgcggccgctgcagctgcagcagcgdel	p.AAAAAAAAA406del	ZNF358_uc021unu.1_In_Frame_Del_p.AAAAAAAAA406del|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	Homo sapiens zinc finger protein 358 (ZNF358), mRNA.	406	Poly-Ala.				embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						tgctgcagctgccgcggccgctgcagctgcagcagcggccgccgGCC	0.692													---	59	---	---	12	---					
OR7C1	26664	broad.mit.edu	37	19	14910638	14910638	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:14910638delA	uc010xnz.2	-	0	311	c.311delT	c.(310-312)ttcfs	p.F104fs		NM_198944	NP_945182	O76099	OR7C1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 1 (OR7C1), mRNA.	104					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AAATGAAGTGAAAAAAAAAAT	0.443													---	413	---	---	22	---					
CHERP	10523	broad.mit.edu	37	19	16640581	16640583	+	In_Frame_Del	DEL	TGC	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:16640581_16640583delTGC	uc002nei.1	-	7	1079_1081	c.1005_1007delGCA	c.(1003-1008)cagcaa>caa	p.335_336QQ>Q	MED26_uc002nee.2_Intron	NM_006387	NP_006378	Q8IWX8	CHERP_HUMAN	Homo sapiens calcium homeostasis endoplasmic reticulum protein (CHERP), mRNA.	335	Gln-rich.				RNA processing|cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	p.Q336Q(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						ctgctgctgttgctgctgctgct	0.670													---	172	---	---	8	---					
PRX	57716	broad.mit.edu	37	19	40900180	40900182	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:40900180_40900182delTCC	uc002onr.3	-	6	4346_4348	c.4077_4079delGGA	c.(4075-4080)gaggaa>gaa	p.1359_1360EE>E	PRX_uc002onq.3_In_Frame_Del_p.1220_1221EE>E|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	1359	Poly-Glu.		Missing.		axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTGCcctcttcctcctcctcct	0.695													---	177	---	---	7	---					
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	-	-	rs141441894	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:43969653_43969655delAGC	uc002owl.1	-	0	177_179	c.69_71delGCT	c.(67-72)ctgctt>ctt	p.23_24LL>L	LYPD3_uc002owm.3_In_Frame_Del_p.23_24LL>L	NM_014400	NP_055215	O95274	LYPD3_HUMAN	Homo sapiens LY6/PLAUR domain containing 3 (LYPD3), mRNA.	23						anchored to plasma membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675													---	681	---	---	14	---					
PLAUR	5329	broad.mit.edu	37	19	44174235	44174237	+	In_Frame_Del	DEL	AGC	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:44174235_44174237delAGC	uc002oxf.2	-	0	262_264	c.36_38delGCT	c.(34-39)ctgctc>ctc	p.12_13LL>L	PLAUR_uc002oxd.2_In_Frame_Del_p.12_13LL>L|PLAUR_uc002oxg.2_In_Frame_Del_p.12_13LL>L	NM_002659	NP_002650	Q03405	UPAR_HUMAN	Homo sapiens plasminogen activator, urokinase receptor (PLAUR), transcript variant 1, mRNA.	12					C-terminal protein lipidation|attachment of GPI anchor to protein|blood coagulation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	U-plasminogen activator receptor activity|enzyme binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)	GCAGGTGTGGagcagcagcagca	0.660													---	631	---	---	7	---					
RSPH6A	81492	broad.mit.edu	37	19	46299165	46299167	+	In_Frame_Del	DEL	CCT	-	-	rs62639328	byFrequency	TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:46299165_46299167delCCT	uc002pdm.3	-	5	2285_2287	c.2114_2116delAGG	c.(2113-2118)gagggc>ggc	p.E705del	RSPH6A_uc002pdl.3_In_Frame_Del_p.E441del	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	705	Glu-rich.					intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						tcctcctcgccctcctcctcctc	0.586													---	856	---	---	8	---					
RSPH6A	81492	broad.mit.edu	37	19	46307971	46307972	+	In_Frame_Ins	INS	-	CTCCTGGTC	CTCCTGGTC			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:46307971_46307972insCTCCTGGTC	uc002pdm.3	-	2	1362_1363	c.1191_1192insGACCAGGAG	c.(1189-1194)insGACCAGGAG	p.397_398insDQE	RSPH6A_uc002pdl.3_In_Frame_Ins_p.133_134insDQE	NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	397	Glu-rich.					intracellular		p.E396*(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						TCCACGGccttctcctcgtcct	0.644													---	167	---	---	15	---					
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:47935681_47935683delTCC	uc010ele.3	-	7	2146_2148	c.2130_2132delGGA	c.(2128-2133)gaggac>gac	p.E710del	SLC8A2_uc002pgx.3_In_Frame_Del_p.E710del|SLC8A2_uc010xyq.2_In_Frame_Del_p.E466del|SLC8A2_uc010xyr.2_In_Frame_Del_p.E173del			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	710					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616													---	602	---	---	7	---					
FUZ	80199	broad.mit.edu	37	19	50310483	50310485	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:50310483_50310485delCAG	uc002ppq.2	-	10	1384_1386	c.1180_1182delCTG	c.(1180-1182)ctgdel	p.L394del	FUZ_uc002ppt.2_Non-coding_Transcript|FUZ_uc002ppu.2_In_Frame_Del_p.L358del	NM_025129	NP_079405	Q9BT04	FUZZY_HUMAN	Homo sapiens fuzzy homolog (Drosophila) (FUZ), transcript variant 1, mRNA.	394	Leu-rich.				cilium assembly|embryonic body morphogenesis|embryonic skeletal system morphogenesis|establishment of planar polarity|hair follicle development|neural tube closure|protein transport|regulation of smoothened signaling pathway	cytoplasm|cytoskeleton				endometrium(1)|lung(3)	4		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00793)|GBM - Glioblastoma multiforme(134;0.0116)		TCTGGGGAGACAGCAGCAGCAGC	0.635													---	270	---	---	8	---					
NAPSA	9476	broad.mit.edu	37	19	50868836	50868838	+	In_Frame_Del	DEL	GCA	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:50868836_50868838delGCA	uc002prx.3	-	0	94_96	c.41_43delTGC	c.(40-45)ctgcct>cct	p.L14del	NR1H2_uc002prv.4_Intron	NM_004851	NP_004842	O96009	NAPSA_HUMAN	Homo sapiens napsin A aspartic peptidase (NAPSA), mRNA.	14					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TTcagcagaggcagcagcagcag	0.596													---	176	---	---	8	---					
SIGLEC8	27181	broad.mit.edu	37	19	51961617	51961619	+	In_Frame_Del	DEL	GCA	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:51961617_51961619delGCA	uc002pwt.3	-	0	90_92	c.23_25delTGC	c.(22-27)ctgccc>ccc	p.L8del	SIGLEC8_uc010yda.2_In_Frame_Del_p.L8del|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_In_Frame_Del_p.L8del	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	8					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGagcaggggcagcagcagcag	0.596													---	497	---	---	19	---					
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:54675747_54675749delTCC	uc010erf.3	-	1	333_335	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_uc002qdo.3_In_Frame_Del_p.E61del	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	Homo sapiens transmembrane channel-like 4 (TMC4), transcript variant 1, mRNA.	67	Poly-Glu.					integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645													---	491	---	---	12	---					
LILRB2	10288	broad.mit.edu	37	19	54780707	54780709	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr19:54780707_54780709delGAG	uc002qfb.3	-	9	1701_1703	c.1435_1437delCTC	c.(1435-1437)ctcdel	p.L479del	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_In_Frame_Del_p.L479del|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_In_Frame_Del_p.L478del|LILRB2_uc010yet.2_In_Frame_Del_p.L363del	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	479					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.L479L(2)|p.L478F(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ggatgaggaagaggaggaggagg	0.611													---	693	---	---	15	---					
CD93	22918	broad.mit.edu	37	20	23065523	23065523	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr20:23065523delC	uc002wsv.3	-	0	1455	c.1307delG	c.(1306-1308)ggcfs	p.G436fs		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	436	EGF-like 5; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCAGAGGGGGCCCCCCGGGCC	0.637													---	658	---	---	7	---					
GZF1	64412	broad.mit.edu	37	20	23345921	23345923	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr20:23345921_23345923delGAG	uc010gdb.3	+	2	1075_1077	c.901_903delGAG	c.(901-903)gagdel	p.E306del	GZF1_uc002wsy.3_In_Frame_Del_p.E306del|GZF1_uc010zsq.2_Intron|GZF1_uc010zsr.2_Intron|GZF1_uc002wsz.3_In_Frame_Del_p.E306del	NM_022482	NP_071927	Q9H116	GZF1_HUMAN	Homo sapiens GDNF-inducible zinc finger protein 1 (GZF1), mRNA.	306					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					ggaggaggaagaggaggaggagg	0.532													---	401	---	---	10	---					
KIF3B	9371	broad.mit.edu	37	20	30898763	30898765	+	In_Frame_Del	DEL	GAG	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr20:30898763_30898765delGAG	uc002wxq.3	+	1	1363_1365	c.1183_1185delGAG	c.(1183-1185)gagdel	p.E399del	KIF3B_uc010ztv.2_Intron|KIF3B_uc010ztw.2_Intron	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	399	Poly-Glu.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGTGGggaagaggaggaggagg	0.571													---	239	---	---	7	---					
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr21:34799292delT	uc002yrp.4	+	3	1162	c.514delT	c.(514-516)tttfs	p.F172fs		NM_005534	NP_005525	P38484	INGR2_HUMAN	Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA.	172	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458													---	1734	---	---	10	---					
PTTG1IP	754	broad.mit.edu	37	21	46276194	46276196	+	In_Frame_Del	DEL	GCA	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr21:46276194_46276196delGCA	uc002zgb.2	-	3	648_650	c.361_363delTGC	c.(361-363)tgcdel	p.C121del	PTTG1IP_uc011afk.2_Intron	NM_004339	NP_004330	P53801	PTTG_HUMAN	Homo sapiens pituitary tumor-transforming 1 interacting protein (PTTG1IP), mRNA.	121	Poly-Cys.				protein import into nucleus	cytoplasm|integral to membrane|nucleus				ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCTTCCTCCTGCAGCAGCAGCAG	0.616													---	420	---	---	8	---					
MED15	51586	broad.mit.edu	37	22	20920814	20920816	+	In_Frame_Del	DEL	CAG	-	-	rs71769813		TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr22:20920814_20920816delCAG	uc002zsp.3	+	6	831_833	c.751_753delCAG	c.(751-753)cagdel	p.Q262del	MED15_uc002zso.2_In_Frame_Del_p.Q191del|MED15_uc002zsq.3_In_Frame_Del_p.Q262del|MED15_uc010gso.3_In_Frame_Del_p.Q262del|MED15_uc002zsr.3_In_Frame_Del_p.Q236del|MED15_uc011ahs.2_In_Frame_Del_p.Q236del|MED15_uc002zss.3_In_Frame_Del_p.Q181del|MED15_uc011ahu.2_5'UTR	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	262	Poly-Gln.		Missing.	Missing (in Ref. 3; BAB85034).	regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	p.Q250_Q251insQ(4)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			acaacagcaacagcagcagcagc	0.591													---	261	---	---	21	---					
ZNRF3	84133	broad.mit.edu	37	22	29445819	29445821	+	In_Frame_Del	DEL	CAG	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr22:29445819_29445821delCAG	uc003aeg.3	+	7	1650_1652	c.1650_1652delCAG	c.(1648-1653)gacagc>gac	p.S557del	ZNRF3_uc021wnq.1_In_Frame_Del_p.S457del	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	557						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CAGgcagcgacagcagcagcagc	0.660													---	268	---	---	9	---					
BIK	638	broad.mit.edu	37	22	43525245	43525247	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chr22:43525245_43525247delGCT	uc003bdk.3	+	4	480_482	c.417_419delGCT	c.(415-420)gcgctg>gcg	p.L144del		NM_001197	NP_001188	Q13323	BIK_HUMAN	Homo sapiens BCL2-interacting killer (apoptosis-inducing) (BIK), mRNA.	144	Leucine-zipper (Potential).				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				tgctgctggcgctgctgctgctg	0.724													---	435	---	---	8	---					
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	C	C			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chrX:107977802_107977803insC	uc004eoc.2	-	0	1805_1806	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	591						plasma membrane	SH3/SH2 adaptor activity|insulin receptor binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													---	965	---	---	9	---					
MAMLD1	10046	broad.mit.edu	37	X	149639633	149639635	+	In_Frame_Del	DEL	GCA	-	-			TCGA-HZ-7926-01A-11D-2154-08	TCGA-HZ-7926-10A-01D-2154-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a320eb-4f2e-435f-911d-75790f855b96	65e65329-48f3-452a-aa5c-f9c26692b9f4	g.chrX:149639633_149639635delGCA	uc011mxu.2	+	2	2023_2025	c.1713_1715delGCA	c.(1711-1716)ctgcag>ctg	p.Q581del	MAMLD1_uc011mxt.1_In_Frame_Del_p.Q568del|MAMLD1_uc004fee.2_In_Frame_Del_p.Q606del|MAMLD1_uc011mxv.2_In_Frame_Del_p.Q581del|MAMLD1_uc011mxw.2_In_Frame_Del_p.Q533del	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	606					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611													---	375	---	---	7	---					
