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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
ACSM5	54988	broad.mit.edu	37	16	20430611	20430611	+	Missense_Mutation	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr16:20430611G>C	ENST00000331849.4	+	4	624	c.477G>C	c.(475-477)caG>caC	p.Q159H	ACSM5_ENST00000575584.1_Missense_Mutation_p.Q159H	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	159			Q -> H.		fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ACCGGCTGCAGGCGTCCAGGG	0.572000													32	34					0	0	1	0	0
OR1S1	219959	broad.mit.edu	37	11	57982876	57982876	+	Missense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:57982876C>G	ENST00000309433.6	+	1	660	c.660C>G	c.(658-660)atC>atG	p.I220M		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TATCAGTTATCATCTTCCCCT	0.443000													22	44					0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43244529	43244529	+	Missense_Mutation	SNP	G	G	A	rs144836522	byFrequency	TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:43244529G>A	ENST00000327495.5	-	1	192	c.8C>T	c.(7-9)cCc>cTc	p.P3L	PSG3_ENST00000595140.1_Missense_Mutation_p.P3L	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	3					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GGCTGAGAGGGGCCCCATGGT	0.607000													45	154					0	0	1	0	0
HCLS1	3059	broad.mit.edu	37	3	121350712	121350712	+	Missense_Mutation	SNP	T	T	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:121350712T>A	ENST00000314583.3	-	14	1533	c.1442A>T	c.(1441-1443)tAt>tTt	p.Y481F	HCLS1_ENST00000428394.2_Missense_Mutation_p.Y444F|HCLS1_ENST00000473883.1_5'UTR	NM_005335.4	NP_005326.2	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	481	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		AAGCTTGACATAATTTGCAGG	0.537000													26	89					0	0	1	0	0
KEAP1	9817	broad.mit.edu	37	19	10602328	10602328	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:10602328C>A	ENST00000171111.5	-	3	1797	c.1250G>T	c.(1249-1251)gGg>gTg	p.G417V	KEAP1_ENST00000393623.2_Missense_Mutation_p.G417V	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	p.G417E(2)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GACCCCCACCCCGATGCGGTT	0.667000													8	10					3.09899e-07	3.78055e-07	1	1	0
CYP4F2	8529	broad.mit.edu	37	19	15990655	15990655	+	Missense_Mutation	SNP	G	G	C	rs147843708		TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:15990655G>C	ENST00000221700.5	-	10	1263	c.1168C>G	c.(1168-1170)Cgg>Ggg	p.R390G	CYP4F2_ENST00000592328.1_Missense_Mutation_p.R390G	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2	390					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGATGCAGCCGCAGGCTCTCC	0.607000													52	66					0	0	1	0	0
TACR1	6869	broad.mit.edu	37	2	75280860	75280860	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:75280860G>T	ENST00000305249.4	-	3	1372	c.607C>A	c.(607-609)Ctg>Atg	p.L203M	TACR1_ENST00000409848.3_Missense_Mutation_p.L203M	NM_001058.3	NP_001049.1	P25103	NK1R_HUMAN	tachykinin receptor 1	203					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|detection of abiotic stimulus|mechanosensory behavior	integral to plasma membrane	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(8)|ovary(1)|skin(1)	24					Aprepitant(DB00673)|Ketamine(DB01221)|Vapreotide(DB04894)	AAGTAGATCAGCACAGTCACA	0.443000											OREG0014726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	56					0.000586117	0.000638256	1	1	0
DSCAM	1826	broad.mit.edu	37	21	41711140	41711140	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr21:41711140G>T	ENST00000400454.1	-	7	1890	c.1413C>A	c.(1411-1413)atC>atA	p.I471I		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	471	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGGAGCTGGAGATGTTCAGGT	0.597000													8	68					5.18039e-06	6.00993e-06	1	1	0
TRAIP	10293	broad.mit.edu	37	3	49869403	49869403	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:49869403C>A	ENST00000331456.2	-	11	1096	c.983G>T	c.(982-984)cGg>cTg	p.R328L	TRAIP_ENST00000469027.1_Missense_Mutation_p.R173L	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	328	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCTGGAGGGCCGGGCTGGGGG	0.552000													35	34					1.99505e-19	3.3173e-19	1	1	0
CHGB	1114	broad.mit.edu	37	20	5903516	5903516	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr20:5903516G>T	ENST00000378961.4	+	4	930	c.726G>T	c.(724-726)gaG>gaT	p.E242D		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	242						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GTGGAGAGGAGACAGGGAGCC	0.547000													6	37					0.00198382	0.00211488	1	1	0
LUZP2	338645	broad.mit.edu	37	11	25004779	25004779	+	Silent	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:25004779G>C	ENST00000533227.1	+	9	734	c.447G>C	c.(445-447)cgG>cgC	p.R149R	LUZP2_ENST00000336930.6_Silent_p.R235R	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	235						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						ATCCAACTCGGATGTTACTCC	0.453000													20	90					0	0	1	0	0
KRTAP9-8	83901	broad.mit.edu	37	17	39394374	39394374	+	Missense_Mutation	SNP	T	T	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:39394374T>A	ENST00000254072.6	+	1	78	c.71T>A	c.(70-72)gTg>gAg	p.V24E		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	24	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCCACCACTGTGACCACCTGC	0.612000													49	96					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86369942	86369942	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr13:86369942C>A	ENST00000400286.2	-	2	1300	c.702G>T	c.(700-702)gaG>gaT	p.E234D		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	234	LRRCT 1.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GAGGCATGTTCTCCAACCAAG	0.403000													49	62					3.70713e-34	6.89022e-34	1	1	0
SNTG2	54221	broad.mit.edu	37	2	1094090	1094090	+	Missense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:1094090C>G	ENST00000308624.5	+	4	448	c.319C>G	c.(319-321)Caa>Gaa	p.Q107E	SNTG2_ENST00000407292.1_Intron	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	107	PDZ.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		ATTCGAAGACCAAGCAGGTAA	0.383000													26	68					0	0	1	0	0
CTRC	11330	broad.mit.edu	37	1	15768970	15768970	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:15768970G>T	ENST00000375943.2	+	2	91	c.68G>T	c.(67-69)tGg>tTg	p.W23L	CTRC_ENST00000375949.4_Silent_p.V86V|CTRC_ENST00000483406.1_3'UTR			Q99895	CTRC_HUMAN	chymotrypsin C (caldecrin)	43					proteolysis		serine-type endopeptidase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)	13		Breast(348;0.000207)|all_lung(284;0.00021)|Colorectal(325;0.000257)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)|Hepatocellular(190;0.0634)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGTGGCCGTGGGAAAGAACA	0.612000													8	34					0.000157383	0.00017487	1	1	0
ADCY8	114	broad.mit.edu	37	8	131793007	131793007	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr8:131793007G>T	ENST00000286355.5	-	18	5477	c.3385C>A	c.(3385-3387)Cgg>Agg	p.R1129R	ADCY8_ENST00000377928.3_Silent_p.R998R	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	1129					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACTTGGATCCGGCCACTAACC	0.527000										HNSCC(32;0.087)			134	125					2.02578e-71	3.87683e-71	1	1	0
OR2A5	393046	broad.mit.edu	37	7	143747922	143747922	+	Missense_Mutation	SNP	T	T	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:143747922T>G	ENST00000408906.2	+	1	462	c.428T>G	c.(427-429)gTc>gGc	p.V143G		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GTGTGCACAGTCCTGGCTGTC	0.527000													114	177					0	0	1	0	0
SSH1	54434	broad.mit.edu	37	12	109185971	109185971	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:109185971C>A	ENST00000326470.5	-	13	2162	c.2017G>T	c.(2017-2019)Ggc>Tgc	p.G673C	SSH1_ENST00000360239.3_Intron|SSH1_ENST00000326495.5_Intron|SSH1_ENST00000551165.1_Missense_Mutation_p.G662C	NM_001161331.1	NP_001154803.1	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	0					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						tggcgggtgcctgtagtccct	0.592000													19	18					8.28177e-16	1.27827e-15	1	1	0
ZNF518A	9849	broad.mit.edu	37	10	97916992	97916992	+	RNA	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr10:97916992G>T	ENST00000534948.1	+	0	1770							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AAAAAGAATGGCAAAGACTTC	0.338000													3	19					1	1	1	1	0
NCF1	653361	broad.mit.edu	37	7	74197867	74197867	+	Splice_Site	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:74197867G>A	ENST00000289473.4	+	7	644		c.e7-1		NCF1_ENST00000443956.3_Splice_Site	NM_000265.4	NP_000256.3	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1						cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						CTCTGGCACAGGTTGGTGGTT	0.612000													15	24					0	0	1	0	0
USP29	57663	broad.mit.edu	37	19	57642670	57642670	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:57642670C>T	ENST00000254181.4	+	4	3081	c.2627C>T	c.(2626-2628)tCt>tTt	p.S876F	USP29_ENST00000598197.1_Missense_Mutation_p.S876F	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	876					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AGGCTTCACTCTGGGTATATC	0.463000													22	66					0	0	1	0	0
S100A5	6276	broad.mit.edu	37	1	153509822	153509822	+	Missense_Mutation	SNP	T	T	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:153509822T>G	ENST00000359215.1	-	4	510	c.283A>C	c.(283-285)Acc>Ccc	p.T95P	S100A5_ENST00000368717.2_Missense_Mutation_p.T77P|S100A5_ENST00000368718.1_Missense_Mutation_p.T77P			P33763	S10A5_HUMAN	S100 calcium binding protein A5	77						nucleus	calcium ion binding|copper ion binding|protein homodimerization activity|zinc ion binding			endometrium(1)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACAGCATGGTCAGGAACACC	0.542000													68	138					0	0	1	0	0
ANO1	55107	broad.mit.edu	37	11	69957863	69957863	+	Missense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:69957863C>G	ENST00000355303.5	+	7	1155	c.850C>G	c.(850-852)Cac>Gac	p.H284D	ANO1_ENST00000530676.1_Missense_Mutation_p.H168D|ANO1_ENST00000538023.1_Missense_Mutation_p.H284D|ANO1_ENST00000398543.2_Missense_Mutation_p.H168D|ANO1_ENST00000531349.1_Missense_Mutation_p.H19D|ANO1_ENST00000316296.5_Missense_Mutation_p.H256D	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	284					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						ATACCCACTGCACGATGTAAG	0.567000													54	101					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38766752	38766752	+	Silent	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:38766752G>A	ENST00000449082.2	-	17	3140	c.3141C>T	c.(3139-3141)agC>agT	p.S1047S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1047					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CAGTGCCTGGGCTCCTGGGTG	0.597000													24	13					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168107617	168107617	+	Missense_Mutation	SNP	A	A	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:168107617A>G	ENST00000409195.1	+	9	9804	c.9715A>G	c.(9715-9717)Aca>Gca	p.T3239A	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T3239A|XIRP2_ENST00000409273.1_Missense_Mutation_p.T3017A|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3064					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACCTACAATCACAATACCAGT	0.418000													38	59					0	0	1	0	0
NIPAL4	348938	broad.mit.edu	37	5	156899460	156899460	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:156899460C>T	ENST00000311946.7	+	6	1009	c.893C>T	c.(892-894)gCc>gTc	p.A298V	NIPAL4_ENST00000435489.2_Missense_Mutation_p.A279V|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	298						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						GTGATCGGGGCCTTCTCTGTG	0.557000											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	59	102					0	0	1	0	0
HOXA9	3205	broad.mit.edu	37	7	27205035	27205035	+	Silent	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:27205035C>T	ENST00000343483.6	-	1	114	c.42G>A	c.(40-42)tcG>tcA	p.S14S	RP1-170O19.20_ENST00000465941.1_Intron|HOXA9_ENST00000497089.1_Intron|RP1-170O19.20_ENST00000470747.4_Intron|HOXA9_ENST00000396345.1_Silent_p.S14S	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	14							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						CCAGCAGGAACGAGTCCACGT	0.711000			T	"""NUP98, MSI2"""	AML*								5	14					0	0	1	0	0
SLC26A11	284129	broad.mit.edu	37	17	78210826	78210826	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:78210826G>T	ENST00000361193.3	+	8	1116	c.836G>T	c.(835-837)gGg>gTg	p.G279V	SLC26A11_ENST00000411502.3_Missense_Mutation_p.G279V|SLC26A11_ENST00000572725.1_Missense_Mutation_p.G279V|SLC26A11_ENST00000546047.2_Missense_Mutation_p.G279V	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	279						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			ACAGCTGAGGGGCTCCCTCCA	0.632000													14	69					3.27435e-08	4.13664e-08	1	1	0
APOB	338	broad.mit.edu	37	2	21236217	21236217	+	Missense_Mutation	SNP	T	T	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:21236217T>A	ENST00000233242.1	-	25	4158	c.4031A>T	c.(4030-4032)aAg>aTg	p.K1344M		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1344					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGATACAACTTGGGAATGGT	0.498000													64	116					0	0	1	0	0
TTLL3	26140	broad.mit.edu	37	3	9862310	9862310	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:9862310G>T	ENST00000547186.1	+	7	826	c.610G>T	c.(610-612)Gag>Tag	p.E204*	TTLL3_ENST00000383827.1_5'UTR|ARPC4-TTLL3_ENST00000397256.1_Nonsense_Mutation_p.E265*|TTLL3_ENST00000427853.3_5'UTR|TTLL3_ENST00000455274.1_5'UTR|TTLL3_ENST00000426895.4_Nonsense_Mutation_p.E347*|TTLL3_ENST00000430793.1_5'UTR|TTLL3_ENST00000397241.1_5'UTR	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	204	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					GTGTGCGTGCGAGGAGTACCT	0.587000													57	79					4.1673e-28	7.47168e-28	1	1	0
WDR1	9948	broad.mit.edu	37	4	10079447	10079447	+	Missense_Mutation	SNP	T	T	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr4:10079447T>A	ENST00000382452.2	-	13	1781	c.1499A>T	c.(1498-1500)gAc>gTc	p.D500V	WDR1_ENST00000382451.2_Missense_Mutation_p.D360V|WDR1_ENST00000499869.2_Missense_Mutation_p.D500V|WDR1_ENST00000502702.1_Missense_Mutation_p.D360V|WDR1_ENST00000515743.1_5'UTR	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	500					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		GAAGGCGCCGTCGTGGGAGTA	0.662000													7	14					0	0	1	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43846210	43846210	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:43846210C>T	ENST00000389420.3	-	14	1945	c.1946G>A	c.(1945-1947)gGc>gAc	p.G649D	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G649D	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	649	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATCCTTTGTGCCAACTGTAAA	0.323000													9	56					0	0	1	0	0
MEGF10	84466	broad.mit.edu	37	5	126705694	126705694	+	Splice_Site	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:126705694G>T	ENST00000274473.6	+	6	679	c.412_splice	c.e6+1	p.A138_splice	MEGF10_ENST00000508365.1_Splice_Site_p.A138_splice|MEGF10_ENST00000503335.2_Splice_Site_p.A138_splice|MEGF10_ENST00000418761.2_Splice_Site_p.A138_splice	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	138	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTGCTCCAGTGGTAAGTTTCC	0.532000													15	22					4.7546e-09	6.20387e-09	1	1	0
TTN	7273	broad.mit.edu	37	2	179418845	179418845	+	Missense_Mutation	SNP	T	T	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:179418845T>C	ENST00000589042.1	-	333	89217	c.88993A>G	c.(88993-88995)Ata>Gta	p.I29665V	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I20725V|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I27097V|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I28024V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I20600V|TTN_ENST00000342175.6_Missense_Mutation_p.I20792V|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28024							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGCCACTTATATCACTACCG	0.433000													73	144					0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150318555	150318555	+	Missense_Mutation	SNP	T	T	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:150318555T>C	ENST00000324862.6	+	13	1867	c.1702T>C	c.(1702-1704)Tac>Cac	p.Y568H	PRPF3_ENST00000414970.2_Missense_Mutation_p.Y519H|PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000543398.1_3'UTR	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	568					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		TGGGCAACTGTACCTGACAGG	0.483000													94	527					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111343228	111343228	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:111343228C>A	ENST00000352690.4	+	10	1538	c.1298C>A	c.(1297-1299)tCc>tAc	p.S433Y	CD96_ENST00000283285.5_Missense_Mutation_p.S449Y	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	449	Pro/Ser/Thr-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						CCCTGGACCTCCAGTGGGACA	0.408000									Opitz Trigonocephaly syndrome				32	63					2.80507e-11	3.92047e-11	1	1	0
ITGAM	3684	broad.mit.edu	37	16	31309269	31309269	+	Silent	SNP	T	T	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr16:31309269T>C	ENST00000544665.3	+	14	1775	c.1704T>C	c.(1702-1704)caT>caC	p.H568H	ITGAM_ENST00000287497.8_Silent_p.H567H	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	567					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GCCCCTCCCATAGCCAGGTGA	0.552000													15	23					0	0	1	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171901	68171901	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:68171901G>A	ENST00000243457.3	+	2	1104	c.721G>A	c.(721-723)Gag>Aag	p.E241K	KCNJ2_ENST00000535240.1_Missense_Mutation_p.E241K	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	241					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					TTCTGAAGGGGAGTATATCCC	0.448000													19	60					0	0	1	0	0
SRCAP	10847	broad.mit.edu	37	16	30732559	30732559	+	Silent	SNP	G	G	T	rs146926872		TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr16:30732559G>T	ENST00000262518.4	+	21	3688	c.3303G>T	c.(3301-3303)acG>acT	p.T1101T	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Silent_p.T1101T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1101	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGCCTCCCACGCCAACCTTGT	0.602000													64	91					4.46356e-37	8.33981e-37	1	1	0
HERC6	55008	broad.mit.edu	37	4	89311904	89311904	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr4:89311904G>T	ENST00000380265.5	+	4	720	c.537G>T	c.(535-537)gaG>gaT	p.E179D	HERC6_ENST00000264346.7_Missense_Mutation_p.E179D|HERC6_ENST00000273960.3_Missense_Mutation_p.E179D	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	179					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		GGTCCCTGGAGGGGATCCCAC	0.627000													7	34					0.00198382	0.00211488	1	1	0
SAV1	60485	broad.mit.edu	37	14	51111627	51111627	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr14:51111627C>T	ENST00000324679.4	-	3	1004	c.641G>A	c.(640-642)aGa>aAa	p.R214K		NM_021818.3	NP_068590.1	Q9H4B6	SAV1_HUMAN	salvador homolog 1 (Drosophila)	214	WW 1.				hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					ATAATATTTTCTCCCTCTCAT	0.453000													28	70					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129566388	129566388	+	Silent	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:129566388G>A	ENST00000422113.2	-	7	2165	c.1839C>T	c.(1837-1839)ttC>ttT	p.F613F	TMEM132D_ENST00000389441.4_Silent_p.F151F	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	613						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCACCTGCATGAAGTCATTTA	0.572000													12	84					0	0	1	0	0
COL11A1	1301	broad.mit.edu	37	1	103345355	103345355	+	Missense_Mutation	SNP	A	A	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:103345355A>T	ENST00000358392.2	-	66	5511	c.5194T>A	c.(5194-5196)Tgg>Agg	p.W1732R	COL11A1_ENST00000353414.4_Missense_Mutation_p.W1681R|COL11A1_ENST00000370096.3_Missense_Mutation_p.W1720R|COL11A1_ENST00000512756.1_Missense_Mutation_p.W1604R	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1720	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		ACATCATACCAGGCTGCTGAC	0.418000													37	44					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53057985	53057985	+	Nonsense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:53057985C>T	ENST00000359798.4	+	5	1996	c.1816C>T	c.(1816-1818)Cag>Tag	p.Q606*		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AGTTTTTGGTCAGAAATCAGC	0.403000													28	88					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27725871	27725871	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:27725871G>T	ENST00000333743.6	+	6	904	c.650G>T	c.(649-651)cGg>cTg	p.R217L	GABRG3_ENST00000555083.1_Missense_Mutation_p.R217L	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	217					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		AAATCATGGCGGCTTTATCAG	0.428000													6	12					0.00198382	0.00211488	1	1	0
ADAM8	101	broad.mit.edu	37	10	135086333	135086333	+	Missense_Mutation	SNP	C	C	A	rs147537421		TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr10:135086333C>A	ENST00000445355.3	-	8	724	c.674G>T	c.(673-675)cGg>cTg	p.R225L	ADAM8_ENST00000415217.3_Missense_Mutation_p.R225L|ADAM8_ENST00000485491.2_Missense_Mutation_p.R186L	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	186					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	p.R225L(1)		central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		CTCCAGCACCCGATGACGCAC	0.697000													27	28					4.59853e-10	6.19536e-10	1	1	0
PCDHB10	56126	broad.mit.edu	37	5	140574266	140574266	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:140574266G>T	ENST00000239446.4	+	1	2325	c.2141G>T	c.(2140-2142)cGg>cTg	p.R714L		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		714					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGGCGGTGCGGCTGTGCAGG	0.687000													59	83					1.1794e-34	2.19784e-34	1	1	0
OSBPL11	114885	broad.mit.edu	37	3	125279256	125279256	+	Silent	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:125279256C>T	ENST00000296220.5	-	8	1411	c.1122G>A	c.(1120-1122)ttG>ttA	p.L374L		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	374					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TAAGCTGTGACAAGAGATGTA	0.408000													40	102					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57328076	57328076	+	Silent	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:57328076C>T	ENST00000326441.9	-	10	2097	c.1734G>A	c.(1732-1734)ctG>ctA	p.L578L	ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000593695.1_Silent_p.L452L|PEG3_ENST00000598410.1_Silent_p.L454L|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000423103.2_Silent_p.L578L|ZIM2_ENST00000599935.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	578					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGTGCTCAATCAGGGCAGAAC	0.478000													32	92					0	0	1	0	0
DGKB	1607	broad.mit.edu	37	7	14378206	14378206	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:14378206C>A	ENST00000403951.2	-	23	2478	c.2059G>T	c.(2059-2061)Gag>Tag	p.E687*	DGKB_ENST00000444700.2_Nonsense_Mutation_p.E668*|DGKB_ENST00000407950.1_Nonsense_Mutation_p.E679*|DGKB_ENST00000399322.3_Nonsense_Mutation_p.E687*|DGKB_ENST00000406247.3_Nonsense_Mutation_p.E687*|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Nonsense_Mutation_p.E686*|DGKB_ENST00000258767.5_Nonsense_Mutation_p.E687*			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	687					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CCTTTTTTCTCTATTCGTCGA	0.403000													11	70					0.00010058	0.000112637	1	1	0
CEP350	9857	broad.mit.edu	37	1	180062000	180062000	+	Missense_Mutation	SNP	A	A	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:180062000A>G	ENST00000367607.3	+	34	7178	c.6760A>G	c.(6760-6762)Aaa>Gaa	p.K2254E	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2254						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGAATCTAGTAAAAAATCAGA	0.303000													5	6					0	0	1	0	0
GABRA6	2559	broad.mit.edu	37	5	161118972	161118972	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:161118972C>A	ENST00000523217.1	+	8	1064	c.822C>A	c.(820-822)acC>acA	p.T274T	GABRA6_ENST00000274545.5_Silent_p.T284T	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	284					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TAACTATGACCACTTTGAGCA	0.408000										TCGA Ovarian(5;0.080)			33	56					2.46105e-21	4.22064e-21	1	1	0
PSG2	5670	broad.mit.edu	37	19	43579660	43579660	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:43579660C>A	ENST00000406487.1	-	3	653	c.555G>T	c.(553-555)caG>caT	p.Q185H		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	185	Ig-like C2-type 1.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				TAGGGAGGCTCTGACCATTCA	0.488000													170	419					5.04192e-100	9.67503e-100	1	1	0
PIK3R5	23533	broad.mit.edu	37	17	8808216	8808216	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:8808216G>T	ENST00000447110.1	-	5	414	c.290C>A	c.(289-291)cCa>cAa	p.P97Q	PIK3R5_ENST00000581552.1_Missense_Mutation_p.P97Q|PIK3R5_ENST00000584803.1_Missense_Mutation_p.P97Q	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	97	Heterodimerization (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						ATCCGAGTCTGGTGGGAAGTG	0.547000													25	64					4.7796e-09	6.20387e-09	1	1	0
ZNF761	388561	broad.mit.edu	37	19	53960338	53960338	+	RNA	SNP	A	A	G	rs2708740	by1000genomes	TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:53960338A>G	ENST00000454407.1	+	0	3030							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CAGTGTAATGAGTGTGGCAAA	0.423000													5	56					0	0	1	0	0
FTSJ1	24140	broad.mit.edu	37	X	48339589	48339589	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chrX:48339589G>T	ENST00000019019.2	+	7	841	c.412G>T	c.(412-414)Gct>Tct	p.A138S	FTSJ1_ENST00000496365.1_3'UTR|FTSJ1_ENST00000456787.1_Missense_Mutation_p.A138S|FTSJ1_ENST00000396894.4_Intron|FTSJ1_ENST00000348411.2_Missense_Mutation_p.A138S	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)	138					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						GCTCCTCCTAGCTGTGAGTAA	0.592000													11	9					4.68919e-08	5.89261e-08	1	1	0
HFM1	164045	broad.mit.edu	37	1	91816429	91816429	+	Splice_Site	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:91816429C>T	ENST00000370425.3	-	18	2171		c.e18-1		HFM1_ENST00000370424.3_Splice_Site|HFM1_ENST00000462405.1_Intron|HFM1_ENST00000294696.5_Splice_Site	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)								ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TCTGTGCAAACTAATGAAAAA	0.313000													11	59					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23722322	23722322	+	Silent	SNP	T	T	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr16:23722322T>A	ENST00000256797.4	-	2	423	c.255A>T	c.(253-255)ccA>ccT	p.P85P	ERN2_ENST00000457008.2_Silent_p.P37P	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	37					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GGAGGTTCTCTGGCCTGAGAG	0.577000													21	28					0	0	1	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124206996	124206996	+	Splice_Site	SNP	G	G	A	rs80356751		TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:124206996G>A	ENST00000330342.3	+	3	542		c.e3+1			NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2						ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		AGAAATGCAGGTAACTTGCTT	0.453000													34	30					0	0	1	0	0
YIPF7	285525	broad.mit.edu	37	4	44631448	44631448	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr4:44631448C>A	ENST00000332990.5	-	4	486	c.470G>T	c.(469-471)tGc>tTc	p.C157F		NM_182592.2	NP_872398.2	Q8N8F6	YIPF7_HUMAN	Yip1 domain family, member 7	157						endoplasmic reticulum membrane|integral to membrane				breast(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(1)	12						CAGGGCTACGCAAAAAAGAAT	0.443000													3	9					0.000602214	0.000650795	1	1	0
ABCA6	23460	broad.mit.edu	37	17	67081325	67081325	+	Splice_Site	SNP	T	T	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:67081325T>G	ENST00000284425.2	-	32	4204		c.e32-2		ABCA6_ENST00000446604.2_Splice_Site	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6						transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CAGTTCCACCTAAAAAAATAA	0.448000													14	8					0	0	1	0	0
CLIP2	7461	broad.mit.edu	37	7	73771660	73771660	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:73771660C>A	ENST00000223398.6	+	6	1395	c.1068C>A	c.(1066-1068)gcC>gcA	p.A356A	CLIP2_ENST00000361545.5_Silent_p.A356A|CLIP2_ENST00000395060.1_Silent_p.A356A	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	356						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCACCACGGCCTTGCAGGAGG	0.612000													7	55					0.00198382	0.00211488	1	1	0
ACVRL1	94	broad.mit.edu	37	12	52314607	52314607	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:52314607C>A	ENST00000550683.1	+	9	1585	c.1484C>A	c.(1483-1485)aCc>aAc	p.T495N	ACVRL1_ENST00000388922.4_Missense_Mutation_p.T481N|ACVRL1_ENST00000419526.2_Missense_Mutation_p.T307N	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	481					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GCCCGACTCACCGCGCTGCGG	0.557000													16	25					1.3612e-06	1.61345e-06	1	1	0
ANGPT4	51378	broad.mit.edu	37	20	870938	870938	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr20:870938G>T	ENST00000381922.3	-	2	485	c.383C>A	c.(382-384)aCg>aAg	p.T128K	ANGPT4_ENST00000546022.1_Missense_Mutation_p.T128K	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	128					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CATGGGGGCCGTCTGATTCTG	0.602000													18	64					1.45105e-14	2.18273e-14	1	1	0
MYPN	84665	broad.mit.edu	37	10	69959218	69959218	+	Missense_Mutation	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr10:69959218G>C	ENST00000358913.5	+	17	3867	c.3379G>C	c.(3379-3381)Gga>Cga	p.G1127R	MYPN_ENST00000540630.1_Missense_Mutation_p.G1127R|MYPN_ENST00000354393.2_Missense_Mutation_p.G852R	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1127	Ig-like 4.|Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						CAGGGAGACCGGAGTCCACTC	0.542000													23	39					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129558697	129558697	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:129558697G>T	ENST00000422113.2	-	9	3349	c.3023C>A	c.(3022-3024)tCc>tAc	p.S1008Y	TMEM132D_ENST00000389441.4_Missense_Mutation_p.S546Y	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1008						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCTTTTTTGGGAGTTTGTGCT	0.458000													83	86					1.59627e-33	2.95143e-33	1	1	0
PRAMEF12	390999	broad.mit.edu	37	1	12837211	12837211	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:12837211G>T	ENST00000357726.4	+	3	948	c.921G>T	c.(919-921)tcG>tcT	p.S307S		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	307								p.S307S(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCAGAGTCGGACCTGAAGC	0.562000													62	166					1.20869e-33	2.24066e-33	1	1	0
SPAG7	9552	broad.mit.edu	37	17	4863163	4863163	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:4863163C>A	ENST00000573366.1	-	6	1171	c.313G>T	c.(313-315)Gtg>Ttg	p.V105L	SPAG7_ENST00000575142.1_Missense_Mutation_p.V145L|SPAG7_ENST00000206020.3_Missense_Mutation_p.V156L			O75391	SPAG7_HUMAN	sperm associated antigen 7	156	R3H.					nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						GGGCTCACCACCACAGGCCCC	0.632000													21	80					1.9806e-07	2.44136e-07	1	1	0
OTUD7A	161725	broad.mit.edu	37	15	31776661	31776661	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:31776661C>A	ENST00000382902.1	-	11	1730	c.1638G>T	c.(1636-1638)gtG>gtT	p.V546V	OTUD7A_ENST00000307050.4_Silent_p.V539V			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	539						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TCTTGCCGTGCACCAGGCCGC	0.652000													7	25					2.0095e-06	2.36216e-06	1	1	0
IRS4	8471	broad.mit.edu	37	X	107978161	107978161	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chrX:107978161C>A	ENST00000372129.2	-	1	1490	c.1414G>T	c.(1414-1416)Ggc>Tgc	p.G472C		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	472						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|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						TGGGGATTGCCTTCCTCCCCA	0.592000													71	45					1.64915e-30	3.01002e-30	1	1	0
TAF1L	138474	broad.mit.edu	37	9	32630210	32630210	+	Nonsense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr9:32630210G>A	ENST00000242310.4	-	1	5457	c.5368C>T	c.(5368-5370)Cag>Tag	p.Q1790*		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1790					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCACTCAGCTGGATAGCAGAG	0.463000													49	63					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152325046	152325046	+	Missense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:152325046C>G	ENST00000388718.5	-	3	5288	c.5216G>C	c.(5215-5217)gGa>gCa	p.G1739A	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1739							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTGAGACTCCTGAGTACCC	0.483000													73	1173					0	0	1	0	0
GRIA4	2893	broad.mit.edu	37	11	105836689	105836689	+	Silent	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:105836689C>G	ENST00000393127.2	+	15	2756	c.2310C>G	c.(2308-2310)ctC>ctG	p.L770L	GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000530497.1_Intron|GRIA4_ENST00000525187.1_Silent_p.L770L|GRIA4_ENST00000282499.5_Intron	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	770					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CTGTTAACCTCGCAGTTTTAA	0.398000													19	24					0	0	1	0	0
KNSTRN	90417	broad.mit.edu	37	15	40675101	40675101	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:40675101G>A	ENST00000416151.2	+	1	180	c.65G>A	c.(64-66)tGc>tAc	p.C22Y	KNSTRN_ENST00000249776.8_Missense_Mutation_p.C22Y|KNSTRN_ENST00000448395.2_Missense_Mutation_p.C22Y	NM_001142761.1	NP_001136233.1			kinetochore-localized astrin/SPAG5 binding protein																		TCTACAGAGTGCGATTCCCAC	0.572000													10	36					0	0	1	0	0
KIAA1377	57562	broad.mit.edu	37	11	101786118	101786118	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:101786118G>T	ENST00000263468.8	+	1	373	c.103G>T	c.(103-105)Ggg>Tgg	p.G35W	ANGPTL5_ENST00000334289.3_Intron	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	35							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GGAGAGCGGCGGGCATCACCG	0.637000													74	167					1.8615e-32	3.424e-32	1	1	0
WBP11P1	441818	broad.mit.edu	37	18	30092896	30092896	+	RNA	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr18:30092896C>A	ENST00000567636.1	+	0	1271					NR_003558.1																						AGCAGAAAAACAATCACAAAA	0.468000													6	32					5.9392e-07	7.17148e-07	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141128827	141128827	+	Missense_Mutation	SNP	T	T	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:141128827T>A	ENST00000389484.3	-	70	11767	c.10796A>T	c.(10795-10797)tAt>tTt	p.Y3599F		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3599	LDL-receptor class A 28.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCACATATATATTCACGTGA	0.289000										TSP Lung(27;0.18)			8	32					0	0	1	0	0
TBC1D9	23158	broad.mit.edu	37	4	141607590	141607590	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr4:141607590G>A	ENST00000442267.2	-	3	342	c.268C>T	c.(268-270)Cac>Tac	p.H90Y		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	90						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CATTCCCAGTGTTCAGTGATT	0.368000													51	59					0	0	1	0	0
CDA	978	broad.mit.edu	37	1	20915692	20915692	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:20915692G>T	ENST00000375071.3	+	1	252	c.70G>T	c.(70-72)Gag>Tag	p.E24*	CDA_ENST00000461985.1_3'UTR	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase	24					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	TTGCTCCCAGGAGGCCAAGAA	0.622000													23	51					7.41877e-09	9.52588e-09	1	1	0
BMP7	655	broad.mit.edu	37	20	55840829	55840829	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr20:55840829G>T	ENST00000395863.3	-	1	855	c.350C>A	c.(349-351)cCt>cAt	p.P117H	BMP7_ENST00000450594.2_Missense_Mutation_p.P117H|BMP7_ENST00000395864.3_Missense_Mutation_p.P117H	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	117					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			GCTGGCCAGAGGGGGGCCCTG	0.657000													5	12					0.0215528	0.0223068	1	1	0
CAMKV	79012	broad.mit.edu	37	3	49899271	49899271	+	Silent	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:49899271C>T	ENST00000477224.1	-	4	733	c.255G>A	c.(253-255)ctG>ctA	p.L85L	CAMKV_ENST00000463537.1_Silent_p.L85L|CAMKV_ENST00000488336.1_Silent_p.L85L|CAMKV_ENST00000466940.1_Silent_p.L85L|CAMKV_ENST00000467248.1_Silent_p.L10L|CAMKV_ENST00000296471.7_Silent_p.L85L|CAMKV_ENST00000498324.1_5'UTR			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	85	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ACACATCCACCAGCTGTAGGA	0.592000													13	20					0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99319930	99319930	+	Silent	SNP	T	T	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:99319930T>C	ENST00000336374.2	-	3	209	c.207A>G	c.(205-207)agA>agG	p.R69R		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	69					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CCCAGACTTTTCTATACTTTT	0.398000													32	58					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9071639	9071639	+	Missense_Mutation	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:9071639G>C	ENST00000397910.4	-	3	16010	c.15807C>G	c.(15805-15807)atC>atG	p.I5269M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5271	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTGGGTGGTGATCGTCATTT	0.512000													48	63					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	875333	875333	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr10:875333G>A	ENST00000316157.3	-	10	1157	c.1117C>T	c.(1117-1119)Cca>Tca	p.P373S		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	373							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						ACCAAGGGTGGGTCAAGATAG	0.463000													16	29					0	0	1	0	0
LGR5	8549	broad.mit.edu	37	12	71977624	71977624	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:71977624G>A	ENST00000266674.5	+	18	2145	c.1834G>A	c.(1834-1836)Gtg>Atg	p.V612M	RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000536515.1_Missense_Mutation_p.V540M|LGR5_ENST00000540815.2_Missense_Mutation_p.V588M			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	612						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CTCCAGTGCCGTGCTGGCTGG	0.507000													16	106					0	0	1	0	0
C3orf67	200844	broad.mit.edu	37	3	58855172	58855172	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:58855172C>A	ENST00000472469.1	-	8	1120	c.282G>T	c.(280-282)ccG>ccT	p.P94P	RP11-147N17.1_ENST00000492031.1_RNA|C3orf67_ENST00000482387.1_Silent_p.P174P|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000482372.1_RNA|C3orf67_ENST00000295966.7_Silent_p.P174P|RP11-147N17.1_ENST00000463703.1_RNA			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	174										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		CTACAGTGGACGGCTGGCATG	0.373000													42	30					7.63091e-17	1.20132e-16	1	1	0
ASIC3	9311	broad.mit.edu	37	7	150747241	150747241	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:150747241G>A	ENST00000357922.4	+	2	1177	c.583G>A	c.(583-585)Ggg>Agg	p.G195R	ASIC3_ENST00000349064.5_Missense_Mutation_p.G195R|ASIC3_ENST00000297512.8_Missense_Mutation_p.G195R	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	195					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										TGGCGCTGATGGGGCAGAGCT	0.587000													25	84					0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45905408	45905408	+	Missense_Mutation	SNP	A	A	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr20:45905408A>C	ENST00000311275.7	-	11	1323	c.1070T>G	c.(1069-1071)tTt>tGt	p.F357C	ZMYND8_ENST00000355972.4_Missense_Mutation_p.F357C|ZMYND8_ENST00000536340.1_Missense_Mutation_p.F384C|ZMYND8_ENST00000458360.2_Missense_Mutation_p.F352C|ZMYND8_ENST00000262975.4_Missense_Mutation_p.F357C|ZMYND8_ENST00000540497.1_Missense_Mutation_p.F352C|ZMYND8_ENST00000446994.2_Missense_Mutation_p.F294C|ZMYND8_ENST00000471951.2_Missense_Mutation_p.F377C|ZMYND8_ENST00000372023.3_Missense_Mutation_p.F352C|ZMYND8_ENST00000352431.2_Missense_Mutation_p.F377C|ZMYND8_ENST00000360911.3_Missense_Mutation_p.F352C|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000396281.4_Missense_Mutation_p.F357C|ZMYND8_ENST00000461685.1_Missense_Mutation_p.F377C			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	357							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			AAAAACCCCAAACTTCCTGCG	0.468000													77	102					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64619502	64619502	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:64619502C>A	ENST00000498707.1	-	13	2252	c.1910G>T	c.(1909-1911)tGc>tTc	p.C637F	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.C609F	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	637	TSP type-1 1.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTCCGTGTTGCAGGACTTAAA	0.413000													46	75					1.06522e-23	1.86742e-23	1	1	0
SLIT2	9353	broad.mit.edu	37	4	20259527	20259527	+	Silent	SNP	A	A	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr4:20259527A>G	ENST00000504154.1	+	3	540	c.288A>G	c.(286-288)agA>agG	p.R96R	SLIT2_ENST00000273739.5_Silent_p.R96R|SLIT2_ENST00000503837.1_Silent_p.R96R|SLIT2_ENST00000503823.1_Silent_p.R96R	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	96					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCATTGAAAGAGGAGCATTCC	0.303000													27	113					0	0	1	0	0
SLC39A11	201266	broad.mit.edu	37	17	70732843	70732843	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:70732843C>T	ENST00000542342.2	-	7	726	c.638G>A	c.(637-639)gGa>gAa	p.G213E	SLC39A11_ENST00000255559.3_Missense_Mutation_p.G206E	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	213					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AAATCCAACTCCAACAGCGAG	0.488000													12	103					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159820381	159820381	+	RNA	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:159820381G>T	ENST00000497452.1	-	0	517																											GCATCTTGCTGAACAAGTGAC	0.463000													10	58					2.74318e-10	3.73114e-10	1	1	0
FAM66D	100132923	broad.mit.edu	37	8	11985996	11985996	+	RNA	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr8:11985996G>A	ENST00000434078.2	+	0	608					NR_027425.1																						TGGCAGAAGTGGGTAAAGTTA	0.488000													30	36					0	0	1	0	0
RPS2	6187	broad.mit.edu	37	16	2012152	2012152	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr16:2012152G>T	ENST00000343262.4	-	7	885	c.829C>A	c.(829-831)Cac>Aac	p.H277N	RPS2_ENST00000529806.1_3'UTR|RPS2_ENST00000530225.1_3'UTR|RPS2_ENST00000526522.1_Missense_Mutation_p.H219N	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	277					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						ACTCTGGTGTGGGTCTTGACG	0.478000													5	49					0.184627	0.186201	1	1	0
MMADHC	27249	broad.mit.edu	37	2	150426645	150426645	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:150426645G>A	ENST00000428879.1	-	7	1238	c.734C>T	c.(733-735)aCt>aTt	p.T245I	MMADHC_ENST00000303319.5_Missense_Mutation_p.T245I|MMADHC_ENST00000422782.2_Missense_Mutation_p.T279I			Q9H3L0	MMAD_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria	245						mitochondrion				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(2)	11						GCGTTCATCAGTTTCAAAAAG	0.353000													25	34					0	0	1	0	0
OR4K1	79544	broad.mit.edu	37	14	20404741	20404741	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr14:20404741G>T	ENST00000285600.4	+	1	975	c.916G>T	c.(916-918)Gtg>Ttg	p.V306L		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		AAACCGTCATGTGAACTCCTG	0.433000													12	58					4.93089e-13	7.17404e-13	1	1	0
ADAMTS3	9508	broad.mit.edu	37	4	73188762	73188762	+	Missense_Mutation	SNP	A	A	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr4:73188762A>G	ENST00000286657.4	-	6	950	c.914T>C	c.(913-915)cTg>cCg	p.L305P	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	305	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CATGCGCACCAGGACCACATT	0.363000													54	111					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98529064	98529064	+	Missense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:98529064C>G	ENST00000359863.4	+	26	3837	c.3628C>G	c.(3628-3630)Ctg>Gtg	p.L1210V	TRRAP_ENST00000446306.3_Missense_Mutation_p.L1209V|TRRAP_ENST00000355540.3_Missense_Mutation_p.L1210V	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1210					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAAGACCACGCTGGAGCAGCT	0.557000													25	39					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100453950	100453950	+	Missense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:100453950C>G	ENST00000317233.4	-	7	1145	c.910G>C	c.(910-912)Gaa>Caa	p.E304Q	AFF3_ENST00000409579.1_Missense_Mutation_p.E329Q|AFF3_ENST00000409236.1_Missense_Mutation_p.E304Q|AFF3_ENST00000356421.2_Missense_Mutation_p.E329Q	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	304					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGGATTATTTCTTCAACACAG	0.393000													16	54					0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150491119	150491119	+	Missense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:150491119C>G	ENST00000447204.2	-	3	617	c.245G>C	c.(244-246)gGa>gCa	p.G82A	TMEM176B_ENST00000429904.2_Missense_Mutation_p.G82A|TMEM176B_ENST00000434545.1_Missense_Mutation_p.G82A|TMEM176B_ENST00000326442.5_Missense_Mutation_p.G82A|TMEM176B_ENST00000450753.2_Intron|TMEM176B_ENST00000492607.1_Missense_Mutation_p.G82A	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	82					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGACACACTCCAAGAACACA	0.592000													26	128					0	0	1	0	0
CCDC65	85478	broad.mit.edu	37	12	49312603	49312603	+	Missense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:49312603C>G	ENST00000266984.5	+	6	1170	c.943C>G	c.(943-945)Cgg>Ggg	p.R315G	ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Missense_Mutation_p.R315G			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	315										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AACTCAGGCCCGGGCAGCATC	0.493000													22	60					0	0	1	0	0
OR2T33	391195	broad.mit.edu	37	1	248436446	248436446	+	Missense_Mutation	SNP	A	A	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:248436446A>C	ENST00000318021.2	-	1	692	c.671T>G	c.(670-672)cTg>cGg	p.L224R		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			GCGCATGTGCAGAACAGCAGC	0.512000													27	41					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100677014	100677014	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:100677014G>A	ENST00000306151.4	+	3	2381	c.2317G>A	c.(2317-2319)Gac>Aac	p.D773N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	773	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.D773N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTCCTCTTGACACAAGCAC	0.478000													212	534					0	0	1	0	0
TTC32	130502	broad.mit.edu	37	2	20101527	20101527	+	Missense_Mutation	SNP	A	A	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:20101527A>T	ENST00000333610.3	-	1	220	c.89T>A	c.(88-90)cTg>cAg	p.L30Q	TTC32_ENST00000402414.1_Missense_Mutation_p.L30Q	NM_001008237.1	NP_001008238.1	Q5I0X7	TTC32_HUMAN	tetratricopeptide repeat domain 32	30							identical protein binding			kidney(2)|large_intestine(1)|lung(1)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGCGGAGTACAGTGCCTCGGC	0.642000													36	81					0	0	1	0	0
ZNF787	126208	broad.mit.edu	37	19	56599581	56599581	+	Silent	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:56599581C>G	ENST00000270459.3	-	3	1078	c.960G>C	c.(958-960)gtG>gtC	p.V320V		NM_001002836.2	NP_001002836.2	Q6DD87	ZN787_HUMAN	zinc finger protein 787	320					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CCCCGCACTCCACGCAGATGT	0.761000													3	13					0	0	1	0	0
OR5AS1	219447	broad.mit.edu	37	11	55798115	55798115	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:55798115C>A	ENST00000313555.1	+	1	221	c.221C>A	c.(220-222)tCt>tAt	p.S74Y		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ATCAGCTGTTCTACAGCAATC	0.343000													21	43					1.64113e-05	1.8824e-05	1	1	0
SLC28A2	9153	broad.mit.edu	37	15	45554276	45554276	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:45554276G>T	ENST00000347644.3	+	4	299	c.234G>T	c.(232-234)aaG>aaT	p.K78N	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	78					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		GCTTGTTCAAGAAGATCCTGT	0.393000													19	67					6.33239e-15	9.54564e-15	1	1	0
FCHO1	23149	broad.mit.edu	37	19	17886849	17886849	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:17886849C>A	ENST00000594202.1	+	16	1340	c.1061C>A	c.(1060-1062)cCc>cAc	p.P354H	FCHO1_ENST00000600676.1_Missense_Mutation_p.P354H|FCHO1_ENST00000596536.1_Missense_Mutation_p.P354H|FCHO1_ENST00000389133.4_Missense_Mutation_p.P354H|FCHO1_ENST00000595033.1_Missense_Mutation_p.P304H|FCHO1_ENST00000596951.1_Missense_Mutation_p.P354H|FCHO1_ENST00000597512.1_Missense_Mutation_p.P361H|FCHO1_ENST00000539407.1_Missense_Mutation_p.P354H|FCHO1_ENST00000252771.7_Missense_Mutation_p.P354H	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	354										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						GATGAAGAGCCCCGCAAGTTC	0.662000													46	56					1.41504e-22	2.44446e-22	1	1	0
MUC17	140453	broad.mit.edu	37	7	100683643	100683643	+	Silent	SNP	T	T	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:100683643T>C	ENST00000306151.4	+	3	9010	c.8946T>C	c.(8944-8946)ccT>ccC	p.P2982P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2982	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TCTCAACTCCTGGCGAAAGAA	0.507000													314	467					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23523455	23523455	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:23523455C>A	ENST00000296682.3	+	9	1120	c.938C>A	c.(937-939)gCc>gAc	p.A313D		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	313	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AAATCCTGGGCCAACTGGATG	0.433000										HNSCC(3;0.000094)			26	66					4.7796e-09	6.20387e-09	1	1	0
CHRNA5	1138	broad.mit.edu	37	15	78882622	78882622	+	Silent	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:78882622C>T	ENST00000299565.5	+	5	1089	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	RP11-650L12.2_ENST00000567141.1_RNA|CHRNA5_ENST00000559554.1_Intron	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	297					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						TGTCTTCCTTCTGGTTATTGA	0.358000													17	62					0	0	1	0	0
BSPRY	54836	broad.mit.edu	37	9	116132330	116132330	+	Missense_Mutation	SNP	G	G	T	rs62636612		TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr9:116132330G>T	ENST00000374183.4	+	6	1156	c.1117G>T	c.(1117-1119)Ggc>Tgc	p.G373C	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	373	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GCCAGCCTCCGGCACAGTGCT	0.637000													18	73					4.75885e-15	7.20423e-15	1	1	0
EN1	2019	broad.mit.edu	37	2	119604508	119604508	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:119604508G>T	ENST00000295206.6	-	1	746	c.236C>A	c.(235-237)cCg>cAg	p.P79Q		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	79					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						cggcgggggcggggggtgtgg	0.751000													5	5					0.000602214	0.000650795	1	1	0
POTEA	340441	broad.mit.edu	37	8	43197329	43197329	+	RNA	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr8:43197329G>C	ENST00000522175.2	+	0	1082							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A									p.?(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTATCTTACAGGTCAAAAGCC	0.318000													85	80					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16267033	16267033	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr22:16267033G>T	ENST00000343518.6	-	9	1467	c.1416C>A	c.(1414-1416)aaC>aaA	p.N472K		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	472										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CAGTGGCACCGTTAGTCAGGT	0.408000													28	592					9.39395e-14	1.39534e-13	1	1	0
VGF	7425	broad.mit.edu	37	7	100807676	100807676	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:100807676C>T	ENST00000249330.2	-	2	688	c.449G>A	c.(448-450)aGc>aAc	p.S150N	VGF_ENST00000445482.2_Missense_Mutation_p.S150N	NM_003378.3	NP_003369.2	O15240	VGF_HUMAN	VGF nerve growth factor inducible	150					response to cAMP	extracellular space|transport vesicle	growth factor activity			cervix(1)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	9	Lung NSC(181;0.168)|all_lung(186;0.215)					GGAGGGATCGCTCGCCTCGGG	0.706000													20	45					0	0	1	0	0
PPT1	5538	broad.mit.edu	37	1	40557016	40557016	+	Missense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:40557016C>G	ENST00000433473.3	-	4	882	c.418G>C	c.(418-420)Ggg>Cgg	p.G140R	PPT1_ENST00000449045.2_Intron	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	140					brain development|cofactor metabolic process|cofactor transport|DNA fragmentation involved in apoptotic nuclear change|lysosomal lumen acidification|membrane raft organization|negative regulation of cell growth|negative regulation of neuron apoptosis|neuron development|pinocytosis|positive regulation of pinocytosis|positive regulation of receptor-mediated endocytosis|protein depalmitoylation|protein transport|receptor-mediated endocytosis|regulation of synapse structure and activity|sphingolipid catabolic process|visual perception	axon|cytosol|Golgi apparatus|lysosome|membrane fraction|membrane raft|nucleus|synaptic vesicle	palmitoyl-(protein) hydrolase activity|palmitoyl-CoA hydrolase activity			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTTGTCCCCCAACCGAGATC	0.423000													9	25					0	0	1	0	0
CYP26C1	340665	broad.mit.edu	37	10	94828255	94828255	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr10:94828255G>A	ENST00000285949.5	+	6	1370	c.1370G>A	c.(1369-1371)cGc>cAc	p.R457H		NM_183374.2	NP_899230.2	Q6V0L0	CP26C_HUMAN	cytochrome P450, family 26, subfamily C, polypeptide 1	457					anterior/posterior pattern formation|central nervous system development|negative regulation of retinoic acid receptor signaling pathway|neural crest cell development|organelle fusion|retinoic acid catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			central_nervous_system(1)|lung(3)|ovary(1)	5		Colorectal(252;0.122)				GGCGGTGCGCGCAGCTGCCTC	0.706000													3	25					0	0	1	0	0
ARMC6	93436	broad.mit.edu	37	19	19166182	19166182	+	Missense_Mutation	SNP	A	A	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:19166182A>T	ENST00000535612.1	+	7	1564	c.1132A>T	c.(1132-1134)Acc>Tcc	p.T378S	ARMC6_ENST00000546344.1_Missense_Mutation_p.T285S|ARMC6_ENST00000392336.3_Missense_Mutation_p.T378S|ARMC6_ENST00000392335.2_Missense_Mutation_p.T353S|ARMC6_ENST00000269932.6_Missense_Mutation_p.T353S	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	378							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GGCTGCTATGACCCAGCATCT	0.597000													18	30					0	0	1	0	0
ITGAE	3682	broad.mit.edu	37	17	3649080	3649080	+	Missense_Mutation	SNP	A	A	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:3649080A>G	ENST00000263087.4	-	18	2395	c.2297T>C	c.(2296-2298)cTg>cCg	p.L766P		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	766					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GGGCATGAGCAGGAGGTCCTC	0.567000													14	56					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198721774	198721774	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:198721774G>A	ENST00000367376.2	+	31	3547	c.3376G>A	c.(3376-3378)Gag>Aag	p.E1126K	PTPRC_ENST00000594404.1_Missense_Mutation_p.E965K|PTPRC_ENST00000352140.3_Missense_Mutation_p.E1078K|PTPRC_ENST00000442510.2_Missense_Mutation_p.E1128K|PTPRC_ENST00000348564.6_Missense_Mutation_p.E967K	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1126	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CTGGAGTGTGGAGCAGCTTCC	0.413000													23	49					0	0	1	0	0
TMPRSS3	64699	broad.mit.edu	37	21	43802268	43802268	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr21:43802268C>A	ENST00000291532.3	-	9	1813	c.858G>T	c.(856-858)ttG>ttT	p.L286F	TMPRSS3_ENST00000398397.3_Missense_Mutation_p.L286F|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.L284F|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.L370F|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.L286F	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	286	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						TCTTCTCCACCAAGTGGGATG	0.522000													19	85					4.63292e-17	7.35878e-17	1	1	0
GMEB1	10691	broad.mit.edu	37	1	29040698	29040698	+	Missense_Mutation	SNP	A	A	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:29040698A>T	ENST00000373816.1	+	10	1243	c.1105A>T	c.(1105-1107)Agg>Tgg	p.R369W	GMEB1_ENST00000480454.1_3'UTR|GMEB1_ENST00000294409.2_Missense_Mutation_p.R379W|GMEB1_ENST00000361872.4_Missense_Mutation_p.R369W	NM_024482.2	NP_077808.1	Q9Y692	GMEB1_HUMAN	glucocorticoid modulatory element binding protein 1	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCCAAAAAGGCCCCGGCT	0.562000													15	93					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139908662	139908662	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:139908662C>T	ENST00000297183.6	+	29	6255	c.6131C>T	c.(6130-6132)cCa>cTa	p.P2044L	ANKHD1_ENST00000544120.1_Missense_Mutation_p.P427L|ANKHD1_ENST00000360839.2_Missense_Mutation_p.P2044L|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.P2044L	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATGTACCCCATCTTCAACT	0.517000													57	80					0	0	1	0	0
KLK1	3816	broad.mit.edu	37	19	51323223	51323223	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:51323223G>T	ENST00000448701.2	-	5	1583	c.259C>A	c.(259-261)Cac>Aac	p.H87N	KLK1_ENST00000301420.2_Missense_Mutation_p.H189N			P06870	KLK1_HUMAN	kallikrein 1	189	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCTGGACGTGGGCTTTTTTG	0.552000													28	40					7.07758e-08	8.86258e-08	1	1	0
GRID1	2894	broad.mit.edu	37	10	87362239	87362239	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr10:87362239G>T	ENST00000327946.7	-	16	2906	c.2821C>A	c.(2821-2823)Cgg>Agg	p.R941R	GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Silent_p.R512R	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	941						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.R941W(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GAGAGTGTCCGGCTGGTGCCA	0.652000										Multiple Myeloma(13;0.14)			22	41					3.5997e-14	5.3693e-14	1	1	0
ZER1	10444	broad.mit.edu	37	9	131495703	131495703	+	Splice_Site	SNP	A	A	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr9:131495703A>T	ENST00000291900.2	-	15	2650		c.e15+1			NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator						ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						CTGGTCTCTTACCGGGCCATT	0.557000											OREG0019523	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	14	28					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55027043	55027043	+	Missense_Mutation	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr20:55027043G>C	ENST00000371336.3	+	5	1012	c.811G>C	c.(811-813)Gct>Cct	p.A271P	CASS4_ENST00000360314.3_Missense_Mutation_p.A271P|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	271					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	p.A271S(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						AAGGCCCCACGCTCTCCCCAG	0.507000													25	52					0	0	1	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971056	21971056	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr9:21971056C>A	ENST00000304494.5	-	2	572	c.302G>T	c.(301-303)gGg>gTg	p.G101V	CDKN2A_ENST00000494262.1_Missense_Mutation_p.G50V|CDKN2A_ENST00000498124.1_Missense_Mutation_p.G101V|CDKN2A_ENST00000530628.2_Silent_p.R115R|CDKN2A_ENST00000497750.1_Missense_Mutation_p.G50V|CDKN2A_ENST00000579122.1_Missense_Mutation_p.G101V|CDKN2A_ENST00000578845.2_Missense_Mutation_p.G50V|CDKN2A_ENST00000446177.1_Missense_Mutation_p.G101V|CDKN2A_ENST00000361570.3_Silent_p.R156R|CDKN2A_ENST00000579755.1_Silent_p.R115R|CDKN2A_ENST00000479692.2_Missense_Mutation_p.G50V|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498628.2_Missense_Mutation_p.G50V	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	101			G -> W (in CMM2 and FAMMMPC; impairs the function).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.A102fs*18(1)|p.0(1)|p.G101fs*17(1)|p.T93_D105del(1)|p.A68fs*3(1)|p.A102fs*42(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)		CAGCCGCGCCCCGGCCCGGTG	0.751000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			11	9					0.00010058	0.000112637	1	1	0
ZBTB7B	51043	broad.mit.edu	37	1	154988244	154988244	+	Missense_Mutation	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:154988244G>C	ENST00000368426.3	+	3	1245	c.1108G>C	c.(1108-1110)Ggc>Cgc	p.G370R	ZBTB7B_ENST00000417934.2_Missense_Mutation_p.G404R|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.G370R|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.G370R	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	370					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GACCCACACAGGCGAGAAGCC	0.647000													80	113					0	0	1	0	0
TP63	8626	broad.mit.edu	37	3	189582206	189582206	+	Splice_Site	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:189582206G>T	ENST00000264731.3	+	5	854	c.766_splice	c.e5+1	p.E255_splice	TP63_ENST00000456148.1_Splice_Site_p.E161_splice|TP63_ENST00000440651.2_Splice_Site_p.E255_splice|TP63_ENST00000392463.2_Splice_Site_p.E161_splice|TP63_ENST00000392460.3_Splice_Site_p.E255_splice|TP63_ENST00000449992.1_Splice_Site_p.E76_splice|TP63_ENST00000354600.5_Splice_Site_p.E161_splice|TP63_ENST00000418709.2_Splice_Site_p.E255_splice|TP63_ENST00000320472.5_Splice_Site_p.E255_splice|TP63_ENST00000392461.3_Splice_Site_p.E161_splice|TP63_ENST00000437221.1_Splice_Site_p.E161_splice|TP63_ENST00000382063.4_Splice_Site_p.E170_splice	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	255					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AATTCAACGAGGGTAAGCAGA	0.498000										HNSCC(45;0.13)			20	40					2.39187e-15	3.65998e-15	1	1	0
NAV2	89797	broad.mit.edu	37	11	20099124	20099124	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:20099124G>T	ENST00000396085.1	+	23	5371	c.5010G>T	c.(5008-5010)caG>caT	p.Q1670H	NAV2_ENST00000540292.1_Missense_Mutation_p.Q1657H|NAV2_ENST00000527559.2_Missense_Mutation_p.Q1655H|NAV2_ENST00000533917.1_Missense_Mutation_p.Q734H|NAV2_ENST00000349880.4_Missense_Mutation_p.Q1670H|NAV2_ENST00000396087.3_Missense_Mutation_p.Q1726H|NAV2_ENST00000311043.8_Missense_Mutation_p.Q734H|NAV2_ENST00000360655.4_Missense_Mutation_p.Q1606H	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	1726	Ser-rich.					nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						CCTTTGAACAGAGTCTTGGTA	0.473000													12	49					1.5842e-08	2.01574e-08	1	1	0
C2CD2	25966	broad.mit.edu	37	21	43309441	43309441	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr21:43309441C>T	ENST00000380486.3	-	14	2124	c.1883G>A	c.(1882-1884)aGg>aAg	p.R628K	C2CD2_ENST00000329623.7_Missense_Mutation_p.R473K	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	628						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TGCACCTTTCCTTAGAATTCC	0.552000													5	33					0	0	1	0	0
SEL1L2	80343	broad.mit.edu	37	20	13912311	13912311	+	Missense_Mutation	SNP	T	T	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr20:13912311T>C	ENST00000284951.5	-	3	295	c.221A>G	c.(220-222)cAa>cGa	p.Q74R	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.Q74R			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	74						integral to membrane	binding	p.Q74R(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TATTTTACGTTGATTCTTCTT	0.249000													10	34					0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66262834	66262834	+	Splice_Site	SNP	A	A	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:66262834A>T	ENST00000532677.1	+	14	1910		c.e14-1		DPP3_ENST00000541961.1_Splice_Site|DPP3_ENST00000453114.1_Splice_Site|DPP3_ENST00000531863.1_Splice_Site|DPP3_ENST00000530165.1_Splice_Site|DPP3_ENST00000533799.1_Splice_Site|DPP3_ENST00000360510.2_Splice_Site	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3						proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTCCTTTTCCAGATTCAGAGC	0.627000													55	33					0	0	1	0	0
HPS3	84343	broad.mit.edu	37	3	148871334	148871334	+	Missense_Mutation	SNP	A	A	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:148871334A>G	ENST00000296051.2	+	7	1439	c.1299A>G	c.(1297-1299)atA>atG	p.I433M	HPS3_ENST00000460120.1_Missense_Mutation_p.I268M	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	433						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGCTTTTCATAGGCTTGAAAG	0.403000									Hermansky-Pudlak syndrome				41	101					0	0	1	0	0
NTRK2	4915	broad.mit.edu	37	9	87635144	87635144	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr9:87635144C>A	ENST00000376214.1	+	20	3134	c.2196C>A	c.(2194-2196)ccC>ccA	p.P732P	NTRK2_ENST00000376213.1_Silent_p.P716P|NTRK2_ENST00000323115.4_Silent_p.P716P|NTRK2_ENST00000277120.3_Silent_p.P732P	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	716	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						CAATGCTGCCCATTCGCTGGA	0.577000										TSP Lung(25;0.17)			24	129					7.88262e-20	1.32309e-19	1	1	0
NFKBIA	4792	broad.mit.edu	37	14	35872429	35872429	+	Silent	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr14:35872429G>A	ENST00000216797.5	-	3	575	c.474C>T	c.(472-474)gcC>gcT	p.A158A	NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557140.1_Silent_p.A158A|NFKBIA_ENST00000557389.1_Silent_p.A68A	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	158					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		CTCCCACGCTGGCCAGGCAGC	0.597000													56	111					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135405430	135405430	+	Missense_Mutation	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chrX:135405430G>C	ENST00000394143.1	+	5	855	c.564G>C	c.(562-564)tgG>tgC	p.W188C	GPR112_ENST00000370652.1_Missense_Mutation_p.W188C|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000287534.4_Missense_Mutation_p.W125C	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	188					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TTCAACTCTGGGACCACATCC	0.443000													62	45					0	0	1	0	0
BEND6	221336	broad.mit.edu	37	6	56846670	56846670	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr6:56846670G>A	ENST00000370748.3	+	2	497	c.62G>A	c.(61-63)aGg>aAg	p.R21K	BEND6_ENST00000370745.1_Missense_Mutation_p.R21K|BEND6_ENST00000370746.3_Missense_Mutation_p.R21K|BEND6_ENST00000370750.2_Missense_Mutation_p.R21K			Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	21										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						AAAGGAAAGAGGAAAAGAACA	0.358000													83	82					0	0	1	0	0
TH	7054	broad.mit.edu	37	11	2191095	2191095	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:2191095G>T	ENST00000381178.1	-	3	208	c.190C>A	c.(190-192)Cgg>Agg	p.R64R	TH_ENST00000352909.3_Silent_p.R33R|TH_ENST00000333684.5_Silent_p.R37R|TH_ENST00000381175.1_Silent_p.R60R	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	64					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CCAATGAACCGCGGGGACTGT	0.721000													4	22					0.00909568	0.00948301	1	1	0
RABGAP1	23637	broad.mit.edu	37	9	125751589	125751589	+	Nonsense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr9:125751589C>T	ENST00000373647.4	+	5	738	c.604C>T	c.(604-606)Cag>Tag	p.Q202*		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	202	PID.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CTTAGATCCTCAGACAAACAC	0.388000													29	63					0	0	1	0	0
DDX24	57062	broad.mit.edu	37	14	94526848	94526848	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr14:94526848C>A	ENST00000330836.5	-	5	1640	c.1509G>T	c.(1507-1509)acG>acT	p.T503T	DDX24_ENST00000544005.1_Silent_p.T253T|DDX24_ENST00000555054.1_Silent_p.T460T	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	503	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		AAAAAACAAGCGTTTGTCTCT	0.478000													56	151					3.4597e-24	6.08017e-24	1	1	0
PDGFRB	5159	broad.mit.edu	37	5	149501447	149501447	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:149501447G>T	ENST00000261799.4	-	16	2809	c.2340C>A	c.(2338-2340)ccC>ccA	p.P780P		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	780	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACCCACCAGAGGGAACGTAGT	0.517000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								37	42					3.62531e-18	5.86325e-18	1	1	0
ZIC4	84107	broad.mit.edu	37	3	147113970	147113970	+	Nonsense_Mutation	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:147113970G>C	ENST00000383075.3	-	3	869	c.357C>G	c.(355-357)taC>taG	p.Y119*	ZIC4_ENST00000525172.2_Nonsense_Mutation_p.Y169*|ZIC4_ENST00000484399.1_Nonsense_Mutation_p.Y119*|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000425731.3_Nonsense_Mutation_p.Y157*|ZIC4_ENST00000473123.1_Nonsense_Mutation_p.Y119*	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	119						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCTGGCGCATGTAGCGGAAGA	0.662000													21	55					0	0	1	0	0
ZNF831	128611	broad.mit.edu	37	20	57829043	57829043	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr20:57829043C>A	ENST00000371030.2	+	5	4279	c.4279C>A	c.(4279-4281)Ctg>Atg	p.L1427M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1427						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGACACCTGCCTGGCAGTGGT	0.522000													42	82					5.59293e-11	7.71064e-11	1	1	0
ZBTB14	7541	broad.mit.edu	37	18	5291982	5291982	+	Silent	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr18:5291982G>A	ENST00000357006.4	-	4	563	c.225C>T	c.(223-225)gtC>gtT	p.V75V	ZBTB14_ENST00000400143.3_Silent_p.V75V	NM_001143823.2|NM_001243704.1	NP_001137295.1|NP_001230633.1			zinc finger and BTB domain containing 14																		CTATTTCTATGACCGAAGAAC	0.363000													29	68					0	0	1	0	0
CORO2B	10391	broad.mit.edu	37	15	69003991	69003991	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:69003991G>T	ENST00000543950.1	+	5	933	c.579G>T	c.(577-579)acG>acT	p.T193T	CORO2B_ENST00000540068.1_Silent_p.T193T|CORO2B_ENST00000566799.1_Silent_p.T198T|CORO2B_ENST00000261861.5_Silent_p.T193T	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	198					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCACCACCACGTGCAAGGACA	0.557000													9	33					0.000274275	0.000301915	1	1	0
SCARA5	286133	broad.mit.edu	37	8	27764705	27764705	+	Silent	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr8:27764705C>T	ENST00000354914.3	-	6	1541	c.1056G>A	c.(1054-1056)aaG>aaA	p.K352K	SCARA5_ENST00000524352.1_Silent_p.K352K|SCARA5_ENST00000380385.2_Silent_p.K127K|RP11-597M17.1_ENST00000517735.1_RNA|SCARA5_ENST00000518030.1_Silent_p.K309K|SCARA5_ENST00000301906.4_Silent_p.K309K	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	352	Collagen-like.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TGGCCCCCAGCTTCCCATCAT	0.587000													58	68					0	0	1	0	0
C2CD2	25966	broad.mit.edu	37	21	43321826	43321826	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr21:43321826C>A	ENST00000380486.3	-	12	1706	c.1465G>T	c.(1465-1467)Gct>Tct	p.A489S	C2CD2_ENST00000329623.7_Missense_Mutation_p.A334S	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	489						cytosol|extracellular region|nucleus		p.A489T(1)		endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						GCCACTTCAGCCACTGGATCC	0.448000													19	28					1.33834e-09	1.7728e-09	1	1	0
ZSCAN4	201516	broad.mit.edu	37	19	58189556	58189556	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:58189556C>A	ENST00000318203.5	+	5	1282	c.585C>A	c.(583-585)ggC>ggA	p.G195G		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	195					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AACAAGATGGCTGGAACAGTT	0.388000													23	75					6.44725e-10	8.65321e-10	1	1	0
ANKHD1	54882	broad.mit.edu	37	5	139892967	139892967	+	Missense_Mutation	SNP	A	A	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:139892967A>T	ENST00000297183.6	+	24	4344	c.4220A>T	c.(4219-4221)cAt>cTt	p.H1407L	ANKHD1_ENST00000360839.2_Missense_Mutation_p.H1407L|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.H1407L	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAAATGTCATCAATGTGTC	0.353000													17	26					0	0	1	0	0
KIFAP3	22920	broad.mit.edu	37	1	169947325	169947325	+	Splice_Site	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:169947325C>T	ENST00000367765.1	-	16	3180		c.e16-1		KIFAP3_ENST00000361580.2_Splice_Site|KIFAP3_ENST00000540905.1_Splice_Site|KIFAP3_ENST00000367767.1_Splice_Site|KIFAP3_ENST00000538366.1_Splice_Site	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3						blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCTTGTTGAGCTGTAAATAAA	0.299000													15	62					0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128341823	128341823	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:128341823C>A	ENST00000389524.4	+	13	1523	c.1470C>A	c.(1468-1470)acC>acA	p.T490T	MYO7B_ENST00000409816.2_Silent_p.T490T|MYO7B_ENST00000428314.1_Silent_p.T490T			Q6PIF6	MYO7B_HUMAN	myosin VIIB	490	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TCCACTACACCGACAATCGGC	0.587000													21	64					3.6726e-16	5.70579e-16	1	1	0
HTR3D	200909	broad.mit.edu	37	3	183756295	183756295	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:183756295C>A	ENST00000382489.3	+	7	1018	c.1018C>A	c.(1018-1020)Cct>Act	p.P340T	HTR3D_ENST00000453435.1_Missense_Mutation_p.P119T|HTR3D_ENST00000428798.2_Missense_Mutation_p.P290T|HTR3D_ENST00000334128.2_Missense_Mutation_p.P165T	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	340						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCAGCCCCTACCTCTGCCTCG	0.647000													30	79					2.61193e-14	3.91239e-14	1	1	0
KLF10	7071	broad.mit.edu	37	8	103664248	103664248	+	Silent	SNP	A	A	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr8:103664248A>G	ENST00000395884.3	-	3	1181	c.279T>C	c.(277-279)tcT>tcC	p.S93S	KLF10_ENST00000285407.6_Silent_p.S104S	NM_001032282.2	NP_001027453.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	104					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			TTGACACTTGAGAGGGTTCAA	0.403000											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	70					0	0	1	0	0
GBP6	163351	broad.mit.edu	37	1	89844124	89844124	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:89844124C>T	ENST00000370456.4	+	5	670	c.577C>T	c.(577-579)Cct>Tct	p.P193S	GBP6_ENST00000535065.1_Missense_Mutation_p.P63S	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	193							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		GAACGGTCACCCTATCACAGA	0.488000													22	100					0	0	1	0	0
AGL	178	broad.mit.edu	37	1	100378044	100378044	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:100378044C>T	ENST00000294724.4	+	29	4398	c.3920C>T	c.(3919-3921)cCt>cTt	p.P1307L	AGL_ENST00000370161.2_Missense_Mutation_p.P1291L|AGL_ENST00000361915.3_Missense_Mutation_p.P1307L|AGL_ENST00000370165.3_Missense_Mutation_p.P1307L|AGL_ENST00000361522.4_Missense_Mutation_p.P1290L|AGL_ENST00000361302.3_Missense_Mutation_p.P1291L|AGL_ENST00000370163.3_Missense_Mutation_p.P1307L	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1307					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AATATTTTCCCTTATCATGAA	0.338000													7	50					0	0	1	0	0
RPRD2	23248	broad.mit.edu	37	1	150413467	150413467	+	Missense_Mutation	SNP	A	A	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:150413467A>G	ENST00000401000.4	+	3	469	c.404A>G	c.(403-405)gAa>gGa	p.E135G	RPRD2_ENST00000369067.3_Missense_Mutation_p.E135G|RPRD2_ENST00000369068.4_Missense_Mutation_p.E135G|RPRD2_ENST00000492220.1_3'UTR|RPRD2_ENST00000539519.1_Missense_Mutation_p.E135G			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	135	CID.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GTATACCCAGAAGAAATGATT	0.313000													3	21					0	0	1	0	0
WDR16	146845	broad.mit.edu	37	17	9511436	9511436	+	Splice_Site	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:9511436G>T	ENST00000352665.5	+	7	823	c.753_splice	c.e7-1	p.G252_splice	WDR16_ENST00000299764.5_Splice_Site_p.G262_splice|WDR16_ENST00000396219.3_Splice_Site_p.G184_splice	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	252						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						TTCCCCCTAGGGAGTGTCAGC	0.463000													21	18					6.44725e-10	8.65321e-10	1	1	0
CD300LG	146894	broad.mit.edu	37	17	41926237	41926237	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:41926237C>A	ENST00000317310.4	+	2	396	c.355C>A	c.(355-357)Ctg>Atg	p.L119M	CD300LG_ENST00000588884.1_Missense_Mutation_p.L119M|CD300LG_ENST00000586233.1_Missense_Mutation_p.L119M|CD300LG_ENST00000293396.8_Missense_Mutation_p.L119M|CD300LG_ENST00000539718.1_Missense_Mutation_p.L119M|CD300LG_ENST00000377203.4_Missense_Mutation_p.L119M	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	119	Ig-like V-type.					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TGAGTCTTTACTGATCTCTCT	0.577000													34	72					1.74807e-11	2.46745e-11	1	1	0
PCSK7	9159	broad.mit.edu	37	11	117097914	117097914	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:117097914C>A	ENST00000320934.3	-	5	1358	c.728G>T	c.(727-729)aGc>aTc	p.S243I		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	243	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GGCACAGAAGCTGTTGTTGGG	0.597000			T	IGH@	MLCLS						OREG0021371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	30	46					3.65163e-15	5.56364e-15	1	1	0
HOXD9	3235	broad.mit.edu	37	2	176988678	176988678	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:176988678C>A	ENST00000249499.6	+	2	1243	c.834C>A	c.(832-834)aaC>aaA	p.N278K	HOXD-AS2_ENST00000440016.2_RNA	NM_014213.3	NP_055028.3	P28356	HXD9_HUMAN	homeobox D9	278						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		CCGCCGCGAACTGGATCCACG	0.577000													39	79					7.63091e-17	1.20132e-16	1	1	0
SREBF1	6720	broad.mit.edu	37	17	17726883	17726883	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:17726883C>A	ENST00000355815.4	-	2	299	c.130G>T	c.(130-132)Gac>Tac	p.D44Y	SREBF1_ENST00000435530.2_Intron|SREBF1_ENST00000338854.5_Intron|SREBF1_ENST00000583732.1_5'UTR|SREBF1_ENST00000261646.5_Intron	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	30	Transcriptional activation (acidic).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CTTGGGGCGTCCAGGCCGTTG	0.667000													12	40					0.000151284	0.000168887	1	1	0
WDR72	256764	broad.mit.edu	37	15	54003627	54003627	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:54003627C>A	ENST00000396328.1	-	8	1002	c.763G>T	c.(763-765)Ggg>Tgg	p.G255W	WDR72_ENST00000559418.1_Missense_Mutation_p.G255W|WDR72_ENST00000557913.1_Missense_Mutation_p.G254W|WDR72_ENST00000360509.5_Missense_Mutation_p.G255W	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	255										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AAGAACTGCCCATTTCTACTA	0.413000													12	57					7.03913e-09	9.08687e-09	1	1	0
EXOC6	54536	broad.mit.edu	37	10	94700547	94700547	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr10:94700547G>A	ENST00000371552.4	+	13	1290	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	EXOC6_ENST00000371547.4_Missense_Mutation_p.E442K|EXOC6_ENST00000260762.6_Missense_Mutation_p.E426K|EXOC6_ENST00000443748.2_Missense_Mutation_p.E323K	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	426					protein transport|vesicle docking involved in exocytosis	exocyst		p.E421K(1)|p.E426K(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				CCAATACAATGAAACACTGCT	0.323000													8	54					0	0	1	0	0
RC3H2	54542	broad.mit.edu	37	9	125652517	125652517	+	Nonstop_Mutation	SNP	T	T	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr9:125652517T>A	ENST00000471874.2	-	3	681	c.657A>T	c.(655-657)tgA>tgT	p.*219C	RC3H2_ENST00000335387.5_Intron|RC3H2_ENST00000478216.1_5'UTR|RC3H2_ENST00000357244.2_Intron|RC3H2_ENST00000373665.2_Intron|RC3H2_ENST00000423239.2_Intron|RC3H2_ENST00000373670.1_Intron			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	0						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						GTCTCAGGATTCACCGAGCTC	0.363000													7	11					0	0	1	0	0
ANKRD12	23253	broad.mit.edu	37	18	9258053	9258053	+	Silent	SNP	C	C	T	rs143265899	byFrequency	TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr18:9258053C>T	ENST00000383440.2	+	8	4976	c.4719C>T	c.(4717-4719)gcC>gcT	p.A1573A	ANKRD12_ENST00000400020.3_Silent_p.A1573A|ANKRD12_ENST00000262126.3_Silent_p.A1596A	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1596						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GAAGTGATGCCTCTACCCAGC	0.383000													36	74					0	0	1	0	0
IGSF11	152404	broad.mit.edu	37	3	118621508	118621508	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:118621508C>T	ENST00000354673.2	-	9	1532	c.1152G>A	c.(1150-1152)atG>atA	p.M384I	IGSF11_ENST00000491903.1_Missense_Mutation_p.M357I|IGSF11_ENST00000489689.1_Missense_Mutation_p.M361I|IGSF11_ENST00000441144.2_Missense_Mutation_p.M360I|IGSF11_ENST00000425327.2_Missense_Mutation_p.M384I|IGSF11_ENST00000393775.2_Missense_Mutation_p.M385I	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	385					cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCTCCTGGACATCACCTGTG	0.527000													38	90					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152129058	152129058	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:152129058G>T	ENST00000316073.3	-	3	581	c.517C>A	c.(517-519)Cct>Act	p.P173T		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	173	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TGTCTCTCAGGCTGACTGTGG	0.483000													368	652					4.69318e-170	9.03024e-170	1	1	0
HERC2	8924	broad.mit.edu	37	15	28436363	28436363	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:28436363C>A	ENST00000261609.7	-	54	8587	c.8479G>T	c.(8479-8481)Gat>Tat	p.D2827Y		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2827	DOC.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACAAGAACATCTGGGAAAATC	0.363000													8	29					0.000274275	0.000301915	1	1	0
TAF1L	138474	broad.mit.edu	37	9	32630142	32630142	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr9:32630142C>T	ENST00000242310.4	-	1	5525	c.5436G>A	c.(5434-5436)atG>atA	p.M1812I		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1812					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CATGCTGAAGCATGAAGGGTT	0.488000													24	28					0	0	1	0	0
NDRG2	57447	broad.mit.edu	37	14	21487318	21487318	+	Splice_Site	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr14:21487318G>A	ENST00000556147.1	-	11	1658	c.716_splice	c.e11-1	p.R240_splice	NDRG2_ENST00000397856.3_Splice_Site_p.R226_splice|NDRG2_ENST00000553503.1_Splice_Site_p.R226_splice|NDRG2_ENST00000397844.2_Splice_Site_p.R226_splice|NDRG2_ENST00000360463.3_Splice_Site_p.R226_splice|NDRG2_ENST00000397853.3_Splice_Site_p.R240_splice|NDRG2_ENST00000555158.1_Splice_Site_p.R226_splice|NDRG2_ENST00000397851.2_Splice_Site_p.R240_splice|NDRG2_ENST00000397855.3_Splice_Site_p.R197_splice|NDRG2_ENST00000403829.3_Splice_Site_p.R236_splice|NDRG2_ENST00000298684.5_Splice_Site_p.R197_splice|NDRG2_ENST00000350792.3_Splice_Site_p.R226_splice|NDRG2_ENST00000554104.1_Splice_Site_p.R153_splice|NDRG2_ENST00000397847.2_Splice_Site_p.R240_splice|NDRG2_ENST00000554277.1_5'UTR|NDRG2_ENST00000298687.5_Splice_Site_p.R240_splice|NDRG2_ENST00000554143.1_Splice_Site_p.R226_splice|NDRG2_ENST00000397858.1_Splice_Site_p.R240_splice			Q9UN36	NDRG2_HUMAN	NDRG family member 2	240					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AGGTCTCGGCGGCTAGAAAGG	0.438000													19	54					0	0	1	0	0
GPR17	2840	broad.mit.edu	37	2	128408967	128408967	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:128408967C>T	ENST00000544369.1	+	4	1353	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	GPR17_ENST00000393018.3_Missense_Mutation_p.R248W|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000410011.1_Intron|LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000272644.3_Missense_Mutation_p.R248W	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	248						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCGCAGCCTGCGGCAGGGCCT	0.627000													38	99					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214787134	214787134	+	Missense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:214787134C>G	ENST00000366955.3	+	2	205	c.37C>G	c.(37-39)Cct>Gct	p.P13A		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	13	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGAAGGGCTGCCTACAAGAGC	0.413000													28	40					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881502	26881502	+	Missense_Mutation	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:26881502G>C	ENST00000231021.4	-	12	2285	c.2113C>G	c.(2113-2115)Cct>Gct	p.P705A		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	705					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TCCCACAGAGGCACAGTCCTC	0.408000													23	134					0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52314608	52314608	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:52314608C>A	ENST00000550683.1	+	9	1586	c.1485C>A	c.(1483-1485)acC>acA	p.T495T	ACVRL1_ENST00000388922.4_Silent_p.T481T|ACVRL1_ENST00000419526.2_Silent_p.T307T	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	481					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCCGACTCACCGCGCTGCGGA	0.552000													16	24					1.3612e-06	1.61345e-06	1	1	0
RASA3	22821	broad.mit.edu	37	13	114792864	114792864	+	Splice_Site	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr13:114792864C>A	ENST00000334062.7	-	7	725		c.e7+1		RASA3_ENST00000389544.4_Splice_Site|RASA3_ENST00000542651.1_Splice_Site	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3						intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			AAGATACCAACCTCAAAATAA	0.443000													17	16					3.45872e-05	3.95441e-05	1	1	0
MAGEA12	4111	broad.mit.edu	37	X	151900504	151900504	+	Silent	SNP	A	A	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chrX:151900504A>T	ENST00000393900.3	-	3	650	c.297T>A	c.(295-297)ccT>ccA	p.P99P	MAGEA12_ENST00000393869.3_Silent_p.P99P|CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Silent_p.P99P	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	99										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAGGTCAGGAAAGGTGC	0.532000													77	49					0	0	1	0	0
SYCP2	10388	broad.mit.edu	37	20	58490600	58490600	+	Silent	SNP	T	T	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr20:58490600T>A	ENST00000357552.3	-	9	744	c.519A>T	c.(517-519)atA>atT	p.I173I	SYCP2_ENST00000371001.2_Silent_p.I173I			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	173					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCATTTTTTTTATAATCTAGA	0.279000													29	78					0	0	1	0	0
SLITRK1	114798	broad.mit.edu	37	13	84454891	84454891	+	Missense_Mutation	SNP	T	T	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr13:84454891T>A	ENST00000377084.2	-	1	1637	c.752A>T	c.(751-753)gAc>gTc	p.D251V		NM_052910.1	NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	251	LRRCT 1.					integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTCATTGAGGTCTTTACCCTG	0.542000													29	39					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130293358	130293358	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:130293358C>T	ENST00000358511.6	+	7	3567	c.3536C>T	c.(3535-3537)gCg>gTg	p.A1179V	COL6A6_ENST00000453409.2_Missense_Mutation_p.A1179V	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1179	Nonhelical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGTACCACAGCGGGTGAAAGC	0.453000													10	51					0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559275	140559275	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:140559275G>T	ENST00000239444.2	+	1	1905	c.1660G>T	c.(1660-1662)Gac>Tac	p.D554Y		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		554	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGTGCTGGACGCCAACGA	0.711000													32	171					9.65021e-13	1.39545e-12	1	1	0
ABCC6	368	broad.mit.edu	37	16	16267190	16267190	+	Missense_Mutation	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr16:16267190G>C	ENST00000205557.7	-	21	2767	c.2738C>G	c.(2737-2739)cCt>cGt	p.P913R		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	913					response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TGCCCTGTCAGGGTCATCCAG	0.562000													39	26					0	0	1	0	0
TRHDE	29953	broad.mit.edu	37	12	73012765	73012765	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:73012765C>A	ENST00000261180.4	+	13	2377	c.2281C>A	c.(2281-2283)Ctt>Att	p.L761I		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	761					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CAGCCGAGCTCTTTATCCTCT	0.373000													6	51					3.59834e-05	4.10083e-05	1	1	0
LOC645752	645752	broad.mit.edu	37	15	78211393	78211393	+	RNA	SNP	A	A	T	rs28595390	by1000genomes	TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:78211393A>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CAGTCTCTCCAGCTCCCGCAC	0.597000													7	156					0	0	1	0	0
NCR1	9437	broad.mit.edu	37	19	55418137	55418137	+	Silent	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:55418137C>T	ENST00000594765.1	+	3	352	c.327C>T	c.(325-327)ccC>ccT	p.P109P	NCR1_ENST00000357397.5_Intron|NCR1_ENST00000598576.1_Silent_p.P97P|NCR1_ENST00000447255.1_Silent_p.P109P|NCR1_ENST00000338835.5_Silent_p.P109P|NCR1_ENST00000350790.5_Intron|NCR1_ENST00000291890.4_Silent_p.P109P			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	109	Ig-like 1.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		GGTCAGAGCCCAGCAACTTGC	0.512000													27	69					0	0	1	0	0
PARP12	64761	broad.mit.edu	37	7	139724636	139724636	+	Silent	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:139724636G>A	ENST00000263549.3	-	12	2703	c.1830C>T	c.(1828-1830)tcC>tcT	p.S610S		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	610	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TCTGCGTGTCGGATTTGCTGT	0.622000													12	73					0	0	1	0	0
COL20A1	57642	broad.mit.edu	37	20	61951699	61951699	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr20:61951699G>T	ENST00000422202.1	+	24	3221	c.3153G>T	c.(3151-3153)cgG>cgT	p.R1051R	COL20A1_ENST00000326996.6_Silent_p.R1044R|COL20A1_ENST00000435874.1_Silent_p.R1051R|COL20A1_ENST00000358894.6_Silent_p.R1044R			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1044					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					ATGAGGACCGGTGCTGTGAGC	0.652000													20	59					8.04996e-18	1.29897e-17	1	1	0
OR2AG1	144125	broad.mit.edu	37	11	6806768	6806768	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:6806768C>A	ENST00000307401.4	+	1	521	c.500C>A	c.(499-501)cCc>cAc	p.P167H		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGCACTATCCCTTCTGCAGG	0.527000													20	80					6.33239e-15	9.54564e-15	1	1	0
HEATR5B	54497	broad.mit.edu	37	2	37292050	37292050	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:37292050C>A	ENST00000233099.5	-	10	1512	c.1417G>T	c.(1417-1419)Gct>Tct	p.A473S	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A473S	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	473							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AATGCCACAGCCACACAGCGC	0.488000													25	61					7.92952e-12	1.12599e-11	1	1	0
TNK2	10188	broad.mit.edu	37	3	195593858	195593858	+	Silent	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:195593858C>G	ENST00000333602.6	-	14	3629	c.3012G>C	c.(3010-3012)cgG>cgC	p.R1004R	TNK2_ENST00000381916.2_Silent_p.R1052R|TNK2_ENST00000428187.1_Silent_p.R1006R|TNK2_ENST00000392400.1_Silent_p.R1004R	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	1004				Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CCCCTCTGGGCCGCAGACCCA	0.682000													14	31					0	0	1	0	0
FGB	2244	broad.mit.edu	37	4	155490675	155490675	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr4:155490675G>T	ENST00000302068.4	+	7	1031	c.968G>T	c.(967-969)tGg>tTg	p.W323L	FGB_ENST00000509493.1_Missense_Mutation_p.W104L|FGB_ENST00000502545.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	323	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GGTGAATATTGGCTTGGAAAT	0.348000													33	36					3.11337e-16	4.84758e-16	1	1	0
PHLPP1	23239	broad.mit.edu	37	18	60645624	60645624	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr18:60645624G>T	ENST00000400316.4	+	17	4359	c.2578G>T	c.(2578-2580)Ggc>Tgc	p.G860C	PHLPP1_ENST00000262719.5_Missense_Mutation_p.G1372C	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1372					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						CTTCATCCTAGGCAGTAAGGG	0.637000													4	22					0.150653	0.152588	1	1	0
MKRN1	23608	broad.mit.edu	37	7	140159583	140159583	+	Silent	SNP	A	A	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:140159583A>G	ENST00000255977.2	-	3	692	c.468T>C	c.(466-468)ttT>ttC	p.F156F	MKRN1_ENST00000474576.1_Silent_p.F92F|MKRN1_ENST00000480552.1_Intron|MKRN1_ENST00000437223.2_Intron|MKRN1_ENST00000443720.2_Silent_p.F156F	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	156							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CTACAGTTGCAAAGTTTGAAT	0.438000													46	145					0	0	1	0	0
CAPN13	92291	broad.mit.edu	37	2	30987006	30987006	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:30987006G>A	ENST00000295055.8	-	6	867	c.691C>T	c.(691-693)Cca>Tca	p.P231S	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.P231S	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	231	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					ACCCCACTTGGAGTGGCACAG	0.567000													5	11					0	0	1	0	0
TRBC2	28638	broad.mit.edu	37	7	142498917	142498917	+	RNA	SNP	A	A	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:142498917A>T	ENST00000466254.1	+	0	193																											CCCCTCAAGGAGCAGCCCGCC	0.642000													28	133					0	0	1	0	0
GPR55	9290	broad.mit.edu	37	2	231775340	231775340	+	Missense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:231775340C>G	ENST00000392040.1	-	2	530	c.338G>C	c.(337-339)tGc>tCc	p.C113S	GPR55_ENST00000392039.2_Missense_Mutation_p.C113S	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	113					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		GCTGATGAAGCAGATGGTGAA	0.582000													26	56					0	0	1	0	0
EML5	161436	broad.mit.edu	37	14	89124732	89124732	+	Splice_Site	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr14:89124732C>A	ENST00000554922.1	-	26	3924	c.3675_splice	c.e26-1	p.G1226_splice	EML5_ENST00000352093.5_Splice_Site_p.G1188_splice|EML5_ENST00000380664.5_Splice_Site_p.G1226_splice	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1226						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCAAATTTCCCCTAAAGAGGA	0.308000													33	94					1.62565e-12	2.3412e-12	1	1	0
CLCA1	1179	broad.mit.edu	37	1	86965587	86965587	+	Silent	SNP	A	A	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:86965587A>G	ENST00000234701.3	+	15	2955	c.2604A>G	c.(2602-2604)ccA>ccG	p.P868P	CLCA1_ENST00000394711.1_Silent_p.P868P			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	868					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TTATTCCTCCACAGACTCCGC	0.393000													46	135					0	0	1	0	0
GBP4	115361	broad.mit.edu	37	1	89658711	89658711	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:89658711G>T	ENST00000355754.6	-	5	643	c.546C>A	c.(544-546)agC>agA	p.S182R		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	182						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		TCGCAAACTCGCTGGAGTCCT	0.483000													16	110					2.32078e-09	3.0514e-09	1	1	0
CCDC65	85478	broad.mit.edu	37	12	49314778	49314778	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:49314778G>T	ENST00000266984.5	+	7	1319	c.1092G>T	c.(1090-1092)ctG>ctT	p.L364L	ARF3_ENST00000398092.4_Intron|CCDC65_ENST00000320516.4_Silent_p.L364L			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	364										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AAAAAGTGCTGCCTTTTTATT	0.403000													5	51					0.000602214	0.000650795	1	1	0
ASB4	51666	broad.mit.edu	37	7	95157280	95157280	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:95157280G>A	ENST00000325885.5	+	3	714	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	ASB4_ENST00000428113.1_Missense_Mutation_p.A215T	NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	215					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CCTGGCCATCGCCGCCTACTG	0.627000											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	47					0	0	1	0	0
SAFB2	9667	broad.mit.edu	37	19	5600191	5600191	+	Missense_Mutation	SNP	T	T	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:5600191T>A	ENST00000252542.4	-	12	1904	c.1640A>T	c.(1639-1641)cAg>cTg	p.Q547L		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CAGCTCATCCTGGTCTTTTTC	0.438000													37	49					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63726647	63726647	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:63726647C>A	ENST00000421025.1	+	5	905	c.636C>A	c.(634-636)taC>taA	p.Y212*	ZNF679_ENST00000255746.4_Nonsense_Mutation_p.Y212*	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	212			Y -> H (in dbSNP:rs1830035).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AGAATTCCTACCAATGTGAAG	0.363000													7	12					8.12818e-05	9.16033e-05	1	1	0
GRIA3	2892	broad.mit.edu	37	X	122532556	122532556	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chrX:122532556C>A	ENST00000264357.5	+	7	1274	c.982C>A	c.(982-984)Cga>Aga	p.R328R	GRIA3_ENST00000371251.1_Silent_p.R328R|GRIA3_ENST00000542149.1_Silent_p.R328R|GRIA3_ENST00000371256.5_Silent_p.R328R|GRIA3_ENST00000541091.1_Silent_p.R312R	NM_000828.4	NP_000819.3	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	328					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GAGGAGGCAGCGAGTAGATGT	0.468000													21	14					1.96292e-10	2.675e-10	1	1	0
MRPL43	84545	broad.mit.edu	37	10	102743813	102743813	+	Missense_Mutation	SNP	C	C	T	rs141726768		TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr10:102743813C>T	ENST00000342071.1	-	4	555	c.484G>A	c.(484-486)Ggc>Agc	p.G162S	SEMA4G_ENST00000210633.3_Silent_p.A819A|RP11-108L7.4_ENST00000447344.1_RNA|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Missense_Mutation_p.G162S|SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000370250.4_Silent_p.A814A|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000299179.5_Intron	NM_176794.1	NP_789764.1	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43	0					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		GCTCCTTCGCCGAGGAACTCA	0.582000													32	54					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124330610	124330610	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:124330610G>T	ENST00000409039.3	+	31	5394	c.5369G>T	c.(5368-5370)gGa>gTa	p.G1790V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1790	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGTGCACGGGAACCTTTGGC	0.597000													26	150					1.77063e-15	2.71522e-15	1	1	0
OR5D18	219438	broad.mit.edu	37	11	55587266	55587266	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:55587266C>A	ENST00000333976.4	+	1	181	c.161C>A	c.(160-162)cCc>cAc	p.P54H		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				AAAATCAACCCCAAACTGCAT	0.448000													35	160					3.11337e-16	4.84758e-16	1	1	0
BAGE2	85319	broad.mit.edu	37	21	11039208	11039208	+	RNA	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr21:11039208G>T	ENST00000470054.1	-	0	995									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACAAATTTTGGAGGCCTTGAT	0.418000													18	214					5.01169e-05	5.69328e-05	1	1	0
PCDHGA5	56110	broad.mit.edu	37	5	140744375	140744375	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:140744375G>A	ENST00000518069.1	+	1	478	c.478G>A	c.(478-480)Gcg>Acg	p.A160T	PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCGGGATGCGGATGTGGG	0.498000													10	19					0	0	1	0	0
CES2	8824	broad.mit.edu	37	16	66974562	66974562	+	Silent	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr16:66974562C>T	ENST00000317091.4	+	5	1956	c.972C>T	c.(970-972)ccC>ccT	p.P324P	CES2_ENST00000417689.1_Silent_p.P324P	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	260					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CCCTCCTGCCCGGCCTCATTG	0.612000													29	35					0	0	1	0	0
SLC39A2	29986	broad.mit.edu	37	14	21467956	21467956	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr14:21467956G>T	ENST00000298681.4	+	2	328	c.171G>T	c.(169-171)ctG>ctT	p.L57L	SLC39A2_ENST00000554422.1_Silent_p.L57L	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	57						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		GTGTTTTCCTGGGAGCAGGGT	0.483000													29	94					5.61819e-17	8.90382e-17	1	1	0
ALDH1L1	10840	broad.mit.edu	37	3	125872151	125872151	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:125872151G>T	ENST00000455064.2	-	6	892	c.469C>A	c.(469-471)Ctg>Atg	p.L157M	ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000413612.1_Intron|ALDH1L1_ENST00000393431.2_Intron|ALDH1L1_ENST00000393434.2_Intron|ALDH1L1_ENST00000472186.1_Intron|ALDH1L1_ENST00000273450.3_Intron			O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	0	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GGACAAATCAGGGTCAGTGTT	0.572000													8	17					1.06961e-07	1.33233e-07	1	1	0
CSMD2	114784	broad.mit.edu	37	1	34401428	34401428	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:34401428G>T	ENST00000373381.4	-	4	821	c.645C>A	c.(643-645)gcC>gcA	p.A215A		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	175	CUB 2.					integral to membrane|plasma membrane	protein binding	p.A175A(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGGTGAGCACGGCGTGGCCCT	0.632000													14	79					1.3612e-06	1.61345e-06	1	1	0
ZNF814	730051	broad.mit.edu	37	19	58385546	58385546	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:58385546G>T	ENST00000435989.2	-	3	1446	c.1212C>A	c.(1210-1212)gaC>gaA	p.D404E	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron|ZNF814_ENST00000595295.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	404					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.D404E(10)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AATGTTTTTTGTCAGTGTGAA	0.393000													4	25					0.00909568	0.00948301	1	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33564921	33564921	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:33564921C>A	ENST00000321505.4	+	1	1101	c.921C>A	c.(919-921)acC>acA	p.T307T	KIAA1549L_ENST00000265654.5_Silent_p.T307T|KIAA1549L_ENST00000389726.3_Silent_p.T307T					KIAA1549-like																		ATTTCAGCACCGGTAGTGTCT	0.478000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	49	141					2.29192e-23	3.99818e-23	1	1	0
SYT4	6860	broad.mit.edu	37	18	40854338	40854338	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr18:40854338C>T	ENST00000255224.3	-	2	424	c.56G>A	c.(55-57)gGg>gAg	p.G19E	SYT4_ENST00000590752.1_Intron|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	19						cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						ACTGAAGATCCCCACCACTGT	0.418000													10	64					0	0	1	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147815276	147815276	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:147815276G>A	ENST00000361727.3	+	16	2966	c.2450G>A	c.(2449-2451)gGg>gAg	p.G817E		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	817	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTTTCCAAGGGGAAACTAGC	0.433000										HNSCC(39;0.1)			18	135					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23065665	23065665	+	Missense_Mutation	SNP	A	A	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr20:23065665A>T	ENST00000246006.4	-	1	1312	c.1165T>A	c.(1165-1167)Tgt>Agt	p.C389S		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	389	EGF-like 4; 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)					CCCAGAGCACACTCATCCACA	0.652000													19	66					0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134366295	134366295	+	Missense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:134366295C>G	ENST00000508956.1	-	2	238	c.181G>C	c.(181-183)Gaa>Caa	p.E61Q	KY_ENST00000503669.1_Missense_Mutation_p.E61Q|KY_ENST00000423778.2_Missense_Mutation_p.E61Q			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	61						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TCATTTCCTTCTAATTTCTGC	0.383000													6	15					0	0	1	0	0
HNRNPKP3	399881	broad.mit.edu	37	11	43284494	43284494	+	RNA	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:43284494G>C	ENST00000511537.1	-	0	441					NR_033868.1																						TCAGTGGAATGAGGACAGCAT	0.413000													5	18					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117376305	117376305	+	Silent	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:117376305G>C	ENST00000321322.6	-	9	2107	c.2106C>G	c.(2104-2106)ggC>ggG	p.G702G	DSCAML1_ENST00000527706.1_Silent_p.G432G	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	642	Ig-like C2-type 8.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CGATGGTCACGCCCGAGCCTG	0.582000													31	37					0	0	1	0	0
BRSK1	84446	broad.mit.edu	37	19	55816900	55816900	+	Silent	SNP	A	A	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:55816900A>G	ENST00000309383.1	+	16	2113	c.1836A>G	c.(1834-1836)ctA>ctG	p.L612L	BRSK1_ENST00000326848.7_Silent_p.L307L|BRSK1_ENST00000590333.1_Silent_p.L628L	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	612					establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		TCCTCGTGCTAAAGGACAAAC	0.557000													78	242					0	0	1	0	0
LIPI	149998	broad.mit.edu	37	21	15561620	15561620	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr21:15561620G>T	ENST00000344577.2	-	2	255	c.230C>A	c.(229-231)gCt>gAt	p.A77D	LIPI_ENST00000536861.1_Missense_Mutation_p.A56D	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	56					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CAGTGGCTCAGCACAGTTTAG	0.373000													31	64					1.88708e-17	3.01763e-17	1	1	0
OR5W2	390148	broad.mit.edu	37	11	55681251	55681251	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:55681251G>T	ENST00000344514.1	-	1	807	c.808C>A	c.(808-810)Caa>Aaa	p.Q270K		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATTTTATCTTGATCTAGAGAA	0.433000													9	74					0.00448238	0.00475709	1	1	0
LAMA4	3910	broad.mit.edu	37	6	112441595	112441595	+	Missense_Mutation	SNP	A	A	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr6:112441595A>T	ENST00000230538.7	-	33	4953	c.4556T>A	c.(4555-4557)tTc>tAc	p.F1519Y	LAMA4_ENST00000522006.1_Missense_Mutation_p.F1512Y|LAMA4_ENST00000389463.4_Missense_Mutation_p.F1512Y|LAMA4_ENST00000424408.2_Missense_Mutation_p.F1512Y	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1519	Laminin G-like 4.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TAGAGTCATGAAGTCATTCTC	0.408000													14	33					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137644492	137644492	+	Splice_Site	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr9:137644492G>A	ENST00000371817.3	+	14	2133		c.e14+1			NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1						axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGGCCCTGTGGTAAGTCATTG	0.632000													8	35					0	0	1	0	0
TMEM131	23505	broad.mit.edu	37	2	98430460	98430460	+	Missense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:98430460C>G	ENST00000186436.5	-	15	1819	c.1591G>C	c.(1591-1593)Gtg>Ctg	p.V531L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	531						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TATACCCGCACGGGTAAATGA	0.348000													6	8					0	0	1	0	0
SAFB2	9667	broad.mit.edu	37	19	5594073	5594073	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:5594073C>A	ENST00000252542.4	-	15	2300	c.2036G>T	c.(2035-2037)cGg>cTg	p.R679L		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	679	Arg-rich.|Glu-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CATGCGCTCCCGCTCCAGCCG	0.716000													5	10					0.000602214	0.000650795	1	1	0
SVOPL	136306	broad.mit.edu	37	7	138341212	138341212	+	Missense_Mutation	SNP	T	T	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:138341212T>C	ENST00000419765.3	-	6	548	c.515A>G	c.(514-516)tAt>tGt	p.Y172C	SVOPL_ENST00000436657.1_Missense_Mutation_p.Y20C|SVOPL_ENST00000288513.5_Missense_Mutation_p.Y20C|SVOPL_ENST00000421622.1_Intron	NM_001139456.1	NP_001132928.1	Q8N434	SVOPL_HUMAN	SVOP-like	172						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GGGTAACATATAGCCTCGGTA	0.373000													77	131					0	0	1	0	0
PIF1	80119	broad.mit.edu	37	15	65108918	65108918	+	Missense_Mutation	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:65108918G>C	ENST00000268043.4	-	12	1815	c.1721C>G	c.(1720-1722)gCc>gGc	p.A574G	PIF1_ENST00000559239.1_Missense_Mutation_p.A574G|PIF1_ENST00000333425.6_Missense_Mutation_p.A574G			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	574	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						CTGGCCACTGGCAAACACACG	0.627000													11	45					0	0	1	0	0
CNGB1	1258	broad.mit.edu	37	16	57954353	57954353	+	Missense_Mutation	SNP	T	T	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr16:57954353T>A	ENST00000564448.1	-	19	1781	c.1721A>T	c.(1720-1722)gAg>gTg	p.E574V	CNGB1_ENST00000251102.8_Missense_Mutation_p.E580V			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	580					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CTTCACTTTCTCTGTCCGCTC	0.597000													37	108					0	0	1	0	0
MMRN1	22915	broad.mit.edu	37	4	90844375	90844375	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr4:90844375G>T	ENST00000394980.1	+	5	1226	c.907G>T	c.(907-909)Ggc>Tgc	p.G303C	MMRN1_ENST00000394981.1_Missense_Mutation_p.G269C|MMRN1_ENST00000508372.1_Missense_Mutation_p.G45C|MMRN1_ENST00000264790.2_Missense_Mutation_p.G303C			Q13201	MMRN1_HUMAN	multimerin 1	303					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TACAGCTGTTGGCAGAGGAGT	0.463000													72	122					6.30617e-38	1.18137e-37	1	1	0
BFSP2	8419	broad.mit.edu	37	3	133166199	133166199	+	Silent	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:133166199G>C	ENST00000302334.2	+	2	617	c.528G>C	c.(526-528)ctG>ctC	p.L176L	RP11-91K8.1_ENST00000515542.1_RNA	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	176	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GGCTCATGCTGCAGACAGAAA	0.527000													16	40					0	0	1	0	0
CASKIN2	57513	broad.mit.edu	37	17	73500023	73500023	+	Missense_Mutation	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:73500023G>C	ENST00000321617.3	-	15	2074	c.1488C>G	c.(1486-1488)aaC>aaG	p.N496K	CASKIN2_ENST00000433559.2_Missense_Mutation_p.N414K	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	496	SAM 1.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCTTAGCCAGTTATGAATGG	0.632000													17	26					0	0	1	0	0
IL12A-AS1	101928376	broad.mit.edu	37	3	159820382	159820382	+	RNA	SNP	A	A	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:159820382A>G	ENST00000497452.1	-	0	517																											CATCTTGCTGAACAAGTGACC	0.458000													10	57					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179596623	179596623	+	Missense_Mutation	SNP	A	A	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:179596623A>C	ENST00000589042.1	-	58	17203	c.16979T>G	c.(16978-16980)gTg>gGg	p.V5660G	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V4416G|TTN_ENST00000591111.1_Missense_Mutation_p.V5343G|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5343	Ig-like 37.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGCCTGCCACCTCAGCCAG	0.408000													45	100					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24923358	24923358	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:24923358C>A	ENST00000329468.2	+	1	2818	c.2344C>A	c.(2344-2346)Cag>Aag	p.Q782K		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		TGGGCCGCAGCAGAAAACCTC	0.557000													24	182					2.98393e-07	3.66538e-07	1	1	0
CLCA4	22802	broad.mit.edu	37	1	87033308	87033308	+	Missense_Mutation	SNP	T	T	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:87033308T>C	ENST00000370563.3	+	7	1198	c.1156T>C	c.(1156-1158)Tgc>Cgc	p.C386R	CLCA4_ENST00000263723.5_Missense_Mutation_p.C99R	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	386	VWFA.					apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AACTTCCATCTGCTCTGGAAT	0.358000													18	55					0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49671576	49671576	+	Missense_Mutation	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:49671576G>C	ENST00000252826.5	+	5	634	c.508G>C	c.(508-510)Gta>Cta	p.V170L	TRPM4_ENST00000355712.5_Intron|TRPM4_ENST00000427978.2_Missense_Mutation_p.V170L	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	170					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TGGTGTGGCTGTACGGGACCA	0.637000													35	109					0	0	1	0	0
CELSR2	1952	broad.mit.edu	37	1	109803677	109803677	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:109803677G>T	ENST00000271332.3	+	3	4033	c.3972G>T	c.(3970-3972)gaG>gaT	p.E1324D		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1324	EGF-like 2; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AGCACTGTGAGGTGAGTGCTC	0.592000													29	33					1.75199e-13	2.58072e-13	1	1	0
ADAMTS3	9508	broad.mit.edu	37	4	73188815	73188815	+	Splice_Site	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr4:73188815C>A	ENST00000286657.4	-	6	898		c.e6-1		RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3						collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTTCATTCACCTAGCAACAAA	0.363000													12	78					3.33393e-15	5.09052e-15	1	1	0
ADAMTS20	80070	broad.mit.edu	37	12	43777618	43777618	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:43777618C>A	ENST00000389420.3	-	30	4614	c.4615G>T	c.(4615-4617)Ggg>Tgg	p.G1539W		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1539	TSP type-1 13.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCAGCCTCCCTCTTTCCATC	0.433000													42	71					1.15505e-17	1.85121e-17	1	1	0
VNN1	8876	broad.mit.edu	37	6	133005630	133005630	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr6:133005630C>A	ENST00000367928.4	-	6	1216	c.1203G>T	c.(1201-1203)ttG>ttT	p.L401F		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	401					acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TTTTACATTTCAACAGGGTAC	0.398000													9	52					7.48243e-07	8.98904e-07	1	1	0
HTR1F	3355	broad.mit.edu	37	3	88040644	88040644	+	Nonsense_Mutation	SNP	A	A	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:88040644A>T	ENST00000319595.4	+	1	799	c.745A>T	c.(745-747)Aag>Tag	p.K249*		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	249					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TGTACTAGAAAAGTCTTTATC	0.403000													28	74					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	165953840	165953840	+	Silent	SNP	A	A	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:165953840A>G	ENST00000360093.3	-	23	4652	c.4161T>C	c.(4159-4161)ctT>ctC	p.L1387L	SCN3A_ENST00000409101.3_Silent_p.L1338L|SCN3A_ENST00000283254.7_Silent_p.L1387L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1387						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CTTGCTTGCCAAGAGCCTGAC	0.423000													38	66					0	0	1	0	0
CCKBR	887	broad.mit.edu	37	11	6292587	6292587	+	Silent	SNP	C	C	T	rs141279039		TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:6292587C>T	ENST00000525462.1	+	4	1368	c.1365C>T	c.(1363-1365)aaC>aaT	p.N455N	CCKBR_ENST00000334619.2_Silent_p.N386N|CCKBR_ENST00000532715.1_Silent_p.N302N			P32239	GASR_HUMAN	cholecystokinin B receptor	386					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CCTGTGTCAACCCCCTGGTCT	0.652000													29	85					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119426274	119426274	+	Silent	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:119426274C>T	ENST00000273390.5	+	3	302	c.225C>T	c.(223-225)acC>acT	p.T75T	MAATS1_ENST00000463700.1_Silent_p.T75T	NM_033364.3	NP_203528.2			MYCBP-associated, testis expressed 1																		GGTTTAAAACCATGTTCAGTA	0.373000													19	71					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140230181	140230181	+	Missense_Mutation	SNP	A	A	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:140230181A>G	ENST00000378122.3	+	1	2825	c.2101A>G	c.(2101-2103)Atc>Gtc	p.I701V	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.I701V|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGTACCTGATCATCGCCAT	0.667000													40	64					0	0	1	0	0
PCDHGB6	56100	broad.mit.edu	37	5	140789649	140789649	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:140789649G>A	ENST00000520790.1	+	1	1880	c.1880G>A	c.(1879-1881)cGc>cAc	p.R627H	PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGAGGTGCGCACGGCTCGA	0.701000													10	27					0	0	1	0	0
SUPT16H	11198	broad.mit.edu	37	14	21821872	21821872	+	Silent	SNP	T	T	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr14:21821872T>C	ENST00000216297.2	-	24	3248	c.2910A>G	c.(2908-2910)gcA>gcG	p.A970A		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	970	Glu-rich (acidic).				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CTGACTCTTCTGCTTCTGATG	0.383000													53	88					0	0	1	0	0
ABCC8	6833	broad.mit.edu	37	11	17414645	17414645	+	Silent	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:17414645G>A	ENST00000302539.4	-	39	4767	c.4642C>T	c.(4642-4644)Ctg>Ttg	p.L1548L	ABCC8_ENST00000389817.3_Silent_p.L1547L	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1547	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	ACGATCACCAGGTCTGCACTC	0.637000													12	37					0	0	1	0	0
MEGF6	1953	broad.mit.edu	37	1	3413835	3413835	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:3413835C>A	ENST00000356575.4	-	27	3669	c.3443G>T	c.(3442-3444)cGc>cTc	p.R1148L	MEGF6_ENST00000294599.4_Missense_Mutation_p.R957L	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1148	EGF-like 21.					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)		AGGGGGACAGCGGCAGGCCCC	0.716000													17	19					3.51602e-12	5.04317e-12	1	1	0
ZNF256	10172	broad.mit.edu	37	19	58455329	58455329	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:58455329C>A	ENST00000282308.3	-	2	329	c.133G>T	c.(133-135)Gag>Tag	p.E45*	ZNF256_ENST00000598928.1_Intron	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	45	KRAB.				multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GTCAAGTTCTCCAGCATCACA	0.527000													26	125					6.32553e-13	9.16556e-13	1	1	0
HERC2P4	100289574	broad.mit.edu	37	16	32163621	32163621	+	RNA	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr16:32163621C>A	ENST00000564145.1	-	0	65																											TGAGGCCCCCCACTTCAGGGT	0.597000													11	9					0.000978159	0.00105546	1	1	0
FAM135B	51059	broad.mit.edu	37	8	139164093	139164093	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr8:139164093G>T	ENST00000395297.1	-	13	2795	c.2625C>A	c.(2623-2625)acC>acA	p.T875T		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	875										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAAGACCTTTGGTTTCAACAC	0.473000										HNSCC(54;0.14)			84	90					3.56499e-28	6.40796e-28	1	1	0
ZNF783	100289678	broad.mit.edu	37	7	148963539	148963539	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:148963539G>T	ENST00000434415.1	+	2	301	c.138G>T	c.(136-138)gtG>gtT	p.V46V		NM_001195220.1	NP_001182149.1	C9J9J2	C9J9J2_HUMAN	zinc finger family member 783	46					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			TGTGGACGGTGGTGGCCGCCA	0.607000													13	43					1.61879e-10	2.21453e-10	1	1	0
MOS	4342	broad.mit.edu	37	8	57025616	57025616	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr8:57025616G>T	ENST00000311923.1	-	1	925	c.926C>A	c.(925-927)cCc>cAc	p.P309H		NM_005372.1	NP_005363.1	P00540	MOS_HUMAN	v-mos Moloney murine sarcoma viral oncogene homolog	309	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(12)|ovary(1)|urinary_tract(2)	22			Epithelial(17;0.00117)|all cancers(17;0.00879)			GCGCTGCCCGGGGAGCGAGTC	0.682000													33	53					2.85442e-18	4.64825e-18	1	1	0
GRM1	2911	broad.mit.edu	37	6	146719960	146719960	+	Silent	SNP	A	A	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr6:146719960A>T	ENST00000392299.2	+	8	2255	c.1785A>T	c.(1783-1785)atA>atT	p.I595I	GRM1_ENST00000282753.1_Silent_p.I595I|GRM1_ENST00000355289.4_Silent_p.I595I|GRM1_ENST00000507907.1_Silent_p.I595I|GRM1_ENST00000361719.2_Silent_p.I595I|GRM1_ENST00000492807.2_Silent_p.I595I			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	595					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	AATCCATTATAGCCATCGCCT	0.473000													85	111					0	0	1	0	0
UNK	85451	broad.mit.edu	37	17	73820482	73820482	+	Missense_Mutation	SNP	A	A	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:73820482A>T	ENST00000293218.3	+	17	2645	c.2645A>T	c.(2644-2646)cAc>cTc	p.H882L	UNK_ENST00000589666.1_Missense_Mutation_p.H806L			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	806							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCCGGGCCCACACCCTCCAG	0.562000													5	8					0	0	1	0	0
FPR2	2358	broad.mit.edu	37	19	52272484	52272484	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:52272484G>T	ENST00000598776.1	+	2	1345	c.573G>T	c.(571-573)ctG>ctT	p.L191L	FPR2_ENST00000340023.6_Silent_p.L191L|FPR2_ENST00000598953.1_Silent_p.L191L	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	191					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						AGGAGAGGCTGAAGGTGGCCA	0.488000													36	92					1.45844e-13	2.15727e-13	1	1	0
GPR107	57720	broad.mit.edu	37	9	132863452	132863452	+	Missense_Mutation	SNP	A	A	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr9:132863452A>T	ENST00000372406.1	+	12	1588	c.1081A>T	c.(1081-1083)Atc>Ttc	p.I361F	GPR107_ENST00000372410.3_Missense_Mutation_p.I361F|GPR107_ENST00000347136.6_Missense_Mutation_p.I361F	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	361						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CATTAAGCACATCCTTTCTGA	0.448000													65	141					0	0	1	0	0
SNIP1	79753	broad.mit.edu	37	1	38003406	38003406	+	Missense_Mutation	SNP	T	T	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:38003406T>A	ENST00000296215.6	-	4	1206	c.1134A>T	c.(1132-1134)gaA>gaT	p.E378D		NM_024700.3	NP_078976.2	Q8TAD8	SNIP1_HUMAN	Smad nuclear interacting protein 1	378					production of miRNAs involved in gene silencing by miRNA	nucleus	protein binding			breast(2)|cervix(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	25		Myeloproliferative disorder(586;0.0393)				TCCTGTCTATTTCAGAAGTGT	0.428000													55	98					0	0	1	0	0
PPEF2	5470	broad.mit.edu	37	4	76785659	76785659	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr4:76785659C>T	ENST00000286719.7	-	16	2298	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	648					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TACAATGTTTCCAGCAAACTT	0.343000													15	47					0	0	1	0	0
KAT2B	8850	broad.mit.edu	37	3	20141433	20141433	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:20141433C>T	ENST00000263754.4	+	4	1111	c.656C>T	c.(655-657)cCt>cTt	p.P219L	KAT2B_ENST00000426228.1_3'UTR	NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	219					cell cycle arrest|cellular response to insulin stimulus|chromatin remodeling|histone H3 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|negative regulation of cell proliferation|transcription initiation from RNA polymerase I promoter	Ada2/Gcn5/Ada3 transcription activator complex|chromatin remodeling complex|PCAF complex	cyclin-dependent protein kinase inhibitor activity|histone acetyltransferase activity|histone deacetylase binding|protein kinase binding|transcription coactivator activity|transcription factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						TTTGAAAAACCTAGCATTGAA	0.348000													12	31					0	0	1	0	0
PLCL1	5334	broad.mit.edu	37	2	198949311	198949311	+	Missense_Mutation	SNP	T	T	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:198949311T>G	ENST00000428675.1	+	2	1468	c.1070T>G	c.(1069-1071)aTa>aGa	p.I357R	PLCL1_ENST00000437704.2_Missense_Mutation_p.I259R	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	357					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTAGACATCATAAGGAGATAC	0.373000													49	97					0	0	1	0	0
C4A	720	broad.mit.edu	37	6	31963559	31963559	+	Missense_Mutation	SNP	A	A	G	rs147162052		TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr6:31963559A>G	ENST00000428956.2	+	25	3302	c.3218A>G	c.(3217-3219)gAc>gGc	p.D1073G	C4A_ENST00000498271.1_Missense_Mutation_p.D1073G	NM_007293.2	NP_009224.2			complement component 4A (Rodgers blood group)																		TTGTCACGGGACAGCAGCACC	0.612000													3	22					0	0	1	0	0
ENDOD1	23052	broad.mit.edu	37	11	94862455	94862455	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:94862455G>T	ENST00000278505.4	+	2	1333	c.1215G>T	c.(1213-1215)gtG>gtT	p.V405V		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	405						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				TCAAGGTCGTGGCCAAAGTCA	0.547000													43	111					3.54561e-26	6.27776e-26	1	1	0
YME1L1	10730	broad.mit.edu	37	10	27425220	27425220	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr10:27425220C>A	ENST00000326799.3	-	6	844	c.696G>T	c.(694-696)gcG>gcT	p.A232A	YME1L1_ENST00000376016.3_Silent_p.A175A|YME1L1_ENST00000375972.3_Silent_p.A142A|YME1L1_ENST00000463270.1_5'UTR	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	232					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						CGAATGATGGCGCTATATTCT	0.368000													9	51					0.0692343	0.0712411	1	1	0
TCF4	6925	broad.mit.edu	37	18	52921801	52921801	+	Missense_Mutation	SNP	T	T	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr18:52921801T>C	ENST00000354452.3	-	15	1888	c.1277A>G	c.(1276-1278)cAt>cGt	p.H426R	TCF4_ENST00000570287.2_Missense_Mutation_p.H266R|TCF4_ENST00000561992.1_Missense_Mutation_p.H296R|TCF4_ENST00000563760.1_5'UTR|TCF4_ENST00000568673.1_Missense_Mutation_p.H402R|TCF4_ENST00000356073.4_Missense_Mutation_p.H426R|TCF4_ENST00000537856.3_Missense_Mutation_p.H296R|TCF4_ENST00000543082.1_Missense_Mutation_p.H384R|TCF4_ENST00000561831.3_Missense_Mutation_p.H266R|TCF4_ENST00000566286.1_Missense_Mutation_p.H423R|TCF4_ENST00000537578.1_Missense_Mutation_p.H402R|TCF4_ENST00000568740.1_Missense_Mutation_p.H401R|TCF4_ENST00000544241.2_Missense_Mutation_p.H355R|TCF4_ENST00000565018.2_Missense_Mutation_p.H426R|TCF4_ENST00000540999.1_Missense_Mutation_p.H402R|TCF4_ENST00000564228.1_Missense_Mutation_p.H355R|TCF4_ENST00000564403.2_Missense_Mutation_p.H432R|TCF4_ENST00000564999.1_Missense_Mutation_p.H426R|TCF4_ENST00000457482.3_Missense_Mutation_p.H266R|TCF4_ENST00000566279.1_Missense_Mutation_p.H366R|TCF4_ENST00000570177.2_Missense_Mutation_p.H296R|TCF4_ENST00000398339.1_Missense_Mutation_p.H528R|TCF4_ENST00000567880.1_Missense_Mutation_p.H366R	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	426					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		GGCTCCATTATGAGAAGGTCC	0.493000													13	33					0	0	1	0	0
CACNG7	59284	broad.mit.edu	37	19	54418758	54418758	+	Splice_Site	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:54418758G>T	ENST00000391767.1	+	4	635	c.424_splice	c.e4+1	p.S141_splice	CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000391766.1_Splice_Site_p.S141_splice|CACNG7_ENST00000222212.2_Splice_Site_p.S141_splice			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	141					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TCATACTATCGGGTGAGCCTA	0.557000													16	43					2.32078e-09	3.0514e-09	1	1	0
BRAF	673	broad.mit.edu	37	7	140453155	140453155	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:140453155C>T	ENST00000288602.6	-	15	1840	c.1780G>A	c.(1780-1782)Gat>Aat	p.D594N		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	594	Protein kinase.		D -> G (in NHL).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.D594N(9)|p.D594H(2)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	AGACCAAAATCACCTATTTTT	0.378000		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				37	77					0	0	1	0	0
PRDM2	7799	broad.mit.edu	37	1	14105513	14105513	+	Missense_Mutation	SNP	A	A	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:14105513A>T	ENST00000235372.7	+	8	2079	c.1223A>T	c.(1222-1224)cAt>cTt	p.H408L	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.H207L|PRDM2_ENST00000413440.1_Missense_Mutation_p.H207L|PRDM2_ENST00000311066.5_Missense_Mutation_p.H408L|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	408						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		CGGCGGCGACATGAGCGGCGC	0.507000													28	66					0	0	1	0	0
G3BP1	10146	broad.mit.edu	37	5	151183479	151183479	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:151183479G>A	ENST00000394123.3	+	12	1373	c.1228G>A	c.(1228-1230)Gtc>Atc	p.V410I	G3BP1_ENST00000356245.3_Missense_Mutation_p.V410I|G3BP1_ENST00000543466.1_Missense_Mutation_p.V228I			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	410	RRM.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			CCGTCTGAATGTCGAAGAGAA	0.527000													39	57					0	0	1	0	0
BZW2	28969	broad.mit.edu	37	7	16737811	16737811	+	Splice_Site	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:16737811G>T	ENST00000433922.2	+	10	1286	c.1108_splice	c.e10+1	p.A370_splice	BZW2_ENST00000258761.3_Splice_Site_p.A370_splice|BZW2_ENST00000405202.1_Splice_Site_p.A294_splice|BZW2_ENST00000407633.1_Splice_Site_p.A176_splice|AC073333.8_ENST00000418907.1_RNA	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	370	W2.				cell differentiation|nervous system development|RNA metabolic process		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		CTTTTATAAAGGTATCCATCC	0.478000													52	153					1.38909e-20	2.36513e-20	1	1	0
ACHE	43	broad.mit.edu	37	7	100490921	100490921	+	Silent	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:100490921G>C	ENST00000302913.4	-	2	1071	c.933C>G	c.(931-933)gtC>gtG	p.V311V	ACHE_ENST00000428317.1_Silent_p.V311V|ACHE_ENST00000419336.2_Silent_p.V311V|ACHE_ENST00000412389.1_Silent_p.V311V|ACHE_ENST00000411582.1_Silent_p.V311V|ACHE_ENST00000241069.5_Silent_p.V311V	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	311					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	GGTTCACCAGGACCTGCGCTG	0.622000													17	40					0	0	1	0	0
PFKFB3	5209	broad.mit.edu	37	10	6262723	6262723	+	Missense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr10:6262723C>G	ENST00000379775.4	+	8	1056	c.726C>G	c.(724-726)atC>atG	p.I242M	PFKFB3_ENST00000379782.3_Missense_Mutation_p.I242M|PFKFB3_ENST00000536985.1_3'UTR|PFKFB3_ENST00000540253.1_Missense_Mutation_p.I256M|PFKFB3_ENST00000317350.4_Missense_Mutation_p.I242M|PFKFB3_ENST00000379789.4_Missense_Mutation_p.I222M|PFKFB3_ENST00000360521.2_Missense_Mutation_p.I242M|PFKFB3_ENST00000379785.1_Missense_Mutation_p.I242M	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	242	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TGATGAACATCCACGTGCAGC	0.632000													16	142					0	0	1	0	0
TRIM42	287015	broad.mit.edu	37	3	140401406	140401406	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:140401406G>T	ENST00000286349.3	+	2	635	c.444G>T	c.(442-444)atG>atT	p.M148I		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	148						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ATTGCCCCATGTGCAGCCGGC	0.602000													34	110					8.4185e-14	1.25307e-13	1	1	0
CXXC11	285093	broad.mit.edu	37	2	242813912	242813912	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:242813912C>A	ENST00000343216.3	+	2	233	c.205C>A	c.(205-207)Cac>Aac	p.H69N		NM_173821.2	NP_776182.2	Q14D33	CB085_HUMAN	CXXC finger protein 11	69						integral to membrane											GGCCCATGTGCACGTCCTCTT	0.687000													5	10					0.184627	0.186201	1	1	0
ADAMTS19	171019	broad.mit.edu	37	5	128887598	128887598	+	Missense_Mutation	SNP	T	T	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:128887598T>C	ENST00000274487.4	+	7	1497	c.1352T>C	c.(1351-1353)gTt>gCt	p.V451A	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	451	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGTGATACTGTTGGTAAGTGT	0.303000													9	12					0	0	1	0	0
GOLGA2P9	440518	broad.mit.edu	37	19	22785241	22785241	+	RNA	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:22785241C>T	ENST00000600260.1	+	0	1417					NR_033899.1																						GCAGCAGCCCCAGCCCCAGGG	0.672000													5	12					0	0	1	0	0
USP20	10868	broad.mit.edu	37	9	132620750	132620750	+	Missense_Mutation	SNP	A	A	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr9:132620750A>G	ENST00000315480.4	+	6	361	c.203A>G	c.(202-204)aAa>aGa	p.K68R	USP20_ENST00000358355.1_Missense_Mutation_p.K68R|USP20_ENST00000372429.3_Missense_Mutation_p.K68R			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	68					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CTCTAGGCAAAAAAGCACAAC	0.557000													21	101					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34648892	34648892	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:34648892C>A	ENST00000537011.1	+	8	3065	c.2683C>A	c.(2683-2685)Ctt>Att	p.L895I	NUTM1_ENST00000438749.3_Missense_Mutation_p.L885I|NUTM1_ENST00000333756.4_Missense_Mutation_p.L867I					NUT midline carcinoma, family member 1																		AGGCAATCTCCTTATCATGGG	0.517000													20	44					1.96292e-10	2.675e-10	1	1	0
ADAMTS3	9508	broad.mit.edu	37	4	73188816	73188816	+	Splice_Site	SNP	T	T	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr4:73188816T>A	ENST00000286657.4	-	6	898		c.e6-2		RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3						collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCATTCACCTAGCAACAAAA	0.368000													13	76					0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15330509	15330509	+	Missense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:15330509C>G	ENST00000281513.5	-	49	6476	c.6451G>C	c.(6451-6453)Gag>Cag	p.E2151Q	NBAS_ENST00000441750.1_Missense_Mutation_p.E2031Q	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2151										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TCTTCATTCTCAATGTCAGCT	0.388000													26	66					0	0	1	0	0
HOXA5	3202	broad.mit.edu	37	7	27183016	27183016	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:27183016G>T	ENST00000222726.3	-	1	271	c.211C>A	c.(211-213)Cgc>Agc	p.R71S	HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA-AS3_ENST00000521197.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	71					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						GCGTAGCTGCGGGCGCGCTCT	0.721000													6	28					0.0215528	0.0223068	1	1	0
MLLT10	8028	broad.mit.edu	37	10	22021901	22021901	+	Silent	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr10:22021901G>A	ENST00000377072.3	+	19	2688	c.2340G>A	c.(2338-2340)ttG>ttA	p.L780L	MLLT10_ENST00000377059.3_Silent_p.L764L|MLLT10_ENST00000307729.7_Silent_p.L764L|MLLT10_ENST00000446906.2_Silent_p.L764L	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	780	Leucine-zipper.|Transactivation domain.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						TTAAAAACTTGACTGCCAAAA	0.363000			T	"""MLL, PICALM, CDK6"""	AL								19	38					0	0	1	0	0
SLC25A36	55186	broad.mit.edu	37	3	140692565	140692565	+	Missense_Mutation	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:140692565G>C	ENST00000446041.2	+	6	685	c.460G>C	c.(460-462)Ggg>Cgg	p.G154R	SLC25A36_ENST00000453248.2_Missense_Mutation_p.G128R|SLC25A36_ENST00000324194.6_Missense_Mutation_p.G154R	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	154					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						CAGGAACCGCGGGGAAAGGCG	0.343000													18	48					0	0	1	0	0
SLC20A2	6575	broad.mit.edu	37	8	42287680	42287680	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr8:42287680C>A	ENST00000342228.3	-	9	1980	c.1611G>T	c.(1609-1611)ctG>ctT	p.L537L	SLC20A2_ENST00000520262.1_Silent_p.L537L|SLC20A2_ENST00000520179.1_Silent_p.L537L	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	537					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CTCCATAAAACAGCAGCCAGA	0.547000													37	34					6.05902e-23	1.04924e-22	1	1	0
TP53BP1	7158	broad.mit.edu	37	15	43749267	43749267	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:43749267C>A	ENST00000263801.3	-	12	1776	c.1524G>T	c.(1522-1524)ttG>ttT	p.L508F	TP53BP1_ENST00000382039.3_Missense_Mutation_p.L513F|TP53BP1_ENST00000382044.4_Missense_Mutation_p.L513F|TP53BP1_ENST00000450115.2_Missense_Mutation_p.L513F	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	508					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		AATCCCCTGTCAAAGATAGCC	0.398000								Other conserved DNA damage response genes					10	58					0.000442599	0.000482712	1	1	0
RNF19B	127544	broad.mit.edu	37	1	33402592	33402592	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:33402592C>T	ENST00000373456.7	-	9	2013	c.2014G>A	c.(2014-2016)Gca>Aca	p.A672T	RNF19B_ENST00000235150.4_Missense_Mutation_p.A671T|RNF19B_ENST00000356990.5_3'UTR	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	672						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCTGACTGTGCATCAGAACTC	0.592000													23	103					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77766437	77766437	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr8:77766437C>T	ENST00000521891.2	+	10	7728	c.7280C>T	c.(7279-7281)cCa>cTa	p.P2427L	ZFHX4_ENST00000518282.1_Missense_Mutation_p.P2401L|ZFHX4_ENST00000455469.2_Missense_Mutation_p.P2382L|ZFHX4_ENST00000050961.6_Missense_Mutation_p.P2382L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2382	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GGCACCAAACCAGCCCTGCCA	0.552000										HNSCC(33;0.089)			9	12					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24921897	24921897	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:24921897C>A	ENST00000329468.2	+	1	1357	c.883C>A	c.(883-885)Ccg>Acg	p.P295T		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		CTTGCCGATTCCGCTGATGTC	0.612000													18	54					2.35188e-11	3.30007e-11	1	1	0
CAMTA1	23261	broad.mit.edu	37	1	7724999	7724999	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:7724999G>T	ENST00000303635.7	+	9	2599	c.2392G>T	c.(2392-2394)Ggg>Tgg	p.G798W	CAMTA1_ENST00000439411.2_Missense_Mutation_p.G798W	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	798					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCTGGTGTCGGGGGACAGCAC	0.637000			T	WWTR1	epitheliod hemangioendothelioma								110	215					2.25818e-43	4.27548e-43	1	1	0
FRY	10129	broad.mit.edu	37	13	32869530	32869530	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr13:32869530G>T	ENST00000380250.3	+	61	9471	c.8975G>T	c.(8974-8976)aGg>aTg	p.R2992M	FRY_ENST00000542859.1_Missense_Mutation_p.R362M|FRY_ENST00000380217.1_Missense_Mutation_p.R174M	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2992					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATGATCCGCAGGGCCCAGAGT	0.557000													37	66					4.34311e-12	6.20444e-12	1	1	0
APBA2	321	broad.mit.edu	37	15	29397662	29397662	+	Silent	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:29397662C>T	ENST00000558402.1	+	12	2204	c.1605C>T	c.(1603-1605)ccC>ccT	p.P535P	APBA2_ENST00000558330.1_Silent_p.P523P|APBA2_ENST00000411764.1_Silent_p.P523P|APBA2_ENST00000558259.1_Silent_p.P535P|APBA2_ENST00000561069.1_Silent_p.P535P			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	535	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GCATCAACCCCGAAGACTTGA	0.577000													7	23					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10103516	10103516	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:10103516G>T	ENST00000264828.3	-	21	1920	c.1835C>A	c.(1834-1836)cCc>cAc	p.P612H		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	612	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			GCGACCCGTGGGGCCAGGAGA	0.587000													21	19					9.95505e-16	1.53321e-15	1	1	0
NCL	4691	broad.mit.edu	37	2	232322391	232322391	+	Missense_Mutation	SNP	A	A	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:232322391A>T	ENST00000322723.4	-	9	1650	c.1410T>A	c.(1408-1410)aaT>aaA	p.N470K		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	470					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TATAGTCTTGATTTTGACCTT	0.418000													22	130					0	0	1	0	0
FMOD	2331	broad.mit.edu	37	1	203316790	203316790	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:203316790C>A	ENST00000354955.4	-	2	1072	c.609G>T	c.(607-609)acG>acT	p.T203T	FMOD_ENST00000464898.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	203					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix		p.T203T(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGTACAAGGCCGTGAGGTTCT	0.582000													123	151					2.08046e-45	3.96013e-45	1	1	0
NUP188	23511	broad.mit.edu	37	9	131765218	131765218	+	Silent	SNP	G	G	A	rs61751464		TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr9:131765218G>A	ENST00000372577.2	+	37	4281	c.4260G>A	c.(4258-4260)ctG>ctA	p.L1420L		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1420					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						CTGAGGCCCTGGACTTCGTGG	0.592000													24	43					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154143391	154143391	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:154143391C>A	ENST00000404039.1	+	2	731	c.144C>A	c.(142-144)acC>acA	p.T48T	DPP6_ENST00000377770.3_Silent_p.T112T|DPP6_ENST00000406326.1_Silent_p.T112T|DPP6_ENST00000427557.1_Silent_p.T50T|DPP6_ENST00000332007.3_Silent_p.T50T|DPP6_ENST00000496611.1_3'UTR	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	112					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TGATCGTCACCTCGGTCATAC	0.438000													15	71					1.02788e-11	1.45668e-11	1	1	0
SERTM1	400120	broad.mit.edu	37	13	37269431	37269431	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr13:37269431C>A	ENST00000315190.3	+	2	662	c.216C>A	c.(214-216)tcC>tcA	p.S72S		NM_203451.2	NP_982276.2	A2A2V5	CM036_HUMAN	serine-rich and transmembrane domain containing 1	72	Poly-Ser.					integral to membrane											TCATCTCCTCCAGTTCCTCCT	0.443000													55	72					2.13883e-14	3.21051e-14	1	1	0
INTS2	57508	broad.mit.edu	37	17	59958411	59958411	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:59958411C>A	ENST00000444766.3	-	17	2310	c.2235G>T	c.(2233-2235)ctG>ctT	p.L745L	INTS2_ENST00000251334.6_Silent_p.L737L	NM_020748.2	NP_065799.1	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	745					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						CATTATTAGTCAGGAGCATTC	0.403000													27	51					4.22769e-11	5.8741e-11	1	1	0
KLHL14	57565	broad.mit.edu	37	18	30349897	30349897	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr18:30349897C>A	ENST00000359358.4	-	2	1096	c.658G>T	c.(658-660)Gag>Tag	p.E220*	AC012123.1_ENST00000426194.1_Missense_Mutation_p.S42Y|KLHL14_ENST00000358095.4_Nonsense_Mutation_p.E220*	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	220	BACK.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GCGCGCATCTCCTCGAAGTTG	0.657000													31	51					3.17567e-06	3.70843e-06	1	1	0
LRRC15	131578	broad.mit.edu	37	3	194080148	194080148	+	Missense_Mutation	SNP	G	G	C	rs147820280		TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:194080148G>C	ENST00000347624.3	-	2	1710	c.1625C>G	c.(1624-1626)gCc>gGc	p.A542G	LRRC15_ENST00000428839.1_Missense_Mutation_p.A548G|LRRC15_ENST00000439944.2_Missense_Mutation_p.A548G	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	542						integral to membrane		p.A542V(1)		biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TACAATGGCGGCAATGGCCAG	0.597000													26	73					0	0	1	0	0
FSTL5	56884	broad.mit.edu	37	4	162463828	162463828	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr4:162463828C>A	ENST00000306100.5	-	9	1469	c.1033G>T	c.(1033-1035)Gtg>Ttg	p.V345L	FSTL5_ENST00000379164.4_Missense_Mutation_p.V344L|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000427802.2_Missense_Mutation_p.V344L|FSTL5_ENST00000536695.1_Missense_Mutation_p.V344L	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	345	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCTGGATACACCCGGATGACT	0.413000													18	40					1.67942e-08	2.13307e-08	1	1	0
RALGDS	5900	broad.mit.edu	37	9	135985753	135985753	+	Missense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr9:135985753C>G	ENST00000393160.3	-	3	606	c.253G>C	c.(253-255)Gtc>Ctc	p.V85L	RALGDS_ENST00000542690.1_Missense_Mutation_p.V211L|RALGDS_ENST00000393157.3_Missense_Mutation_p.V139L|RALGDS_ENST00000372047.3_Missense_Mutation_p.V140L|RALGDS_ENST00000372050.3_Missense_Mutation_p.V140L|RALGDS_ENST00000372062.3_Missense_Mutation_p.V123L	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	140					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		AAGATGGTGACGTAGGAGAGG	0.587000			T	CIITA	"""PMBL, Hodgkin Lymphona, """								12	62					0	0	1	0	0
FNIP1	96459	broad.mit.edu	37	5	131007450	131007450	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:131007450C>A	ENST00000307968.7	-	13	2602	c.2603G>T	c.(2602-2604)tGt>tTt	p.C868F	FNIP1_ENST00000510461.1_Missense_Mutation_p.C896F|FNIP1_ENST00000307954.8_Missense_Mutation_p.C851F|FNIP1_ENST00000514667.1_Intron	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		GCAGGTTTTACATGAATCTTG	0.353000													28	38					4.59853e-10	6.19536e-10	1	1	0
MYH6	4624	broad.mit.edu	37	14	23874574	23874574	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr14:23874574G>T	ENST00000405093.3	-	5	430	c.360C>A	c.(358-360)ctC>ctA	p.L120L	MYH6_ENST00000356287.3_Silent_p.L120L	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	120	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGACACAGAAGAGGCCCGAGT	0.637000													34	103					1.30293e-26	2.31271e-26	1	1	0
MUC16	94025	broad.mit.edu	37	19	9070910	9070910	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:9070910G>T	ENST00000397910.4	-	3	16739	c.16536C>A	c.(16534-16536)ccC>ccA	p.P5512P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5514	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGCACCTGTGGGCACATAAG	0.517000													29	44					2.24059e-21	3.85187e-21	1	1	0
EPHA4	2043	broad.mit.edu	37	2	222429063	222429063	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:222429063G>T	ENST00000281821.2	-	3	252	c.211C>A	c.(211-213)Caa>Aaa	p.Q71K	EPHA4_ENST00000409854.1_Missense_Mutation_p.Q71K|EPHA4_ENST00000409938.1_Missense_Mutation_p.Q71K|EPHA4_ENST00000392071.4_Missense_Mutation_p.Q20K	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	71						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTGCACACTTGGTAGGTTCGG	0.433000													51	149					1.11015e-26	1.97545e-26	1	1	0
CHD3	1107	broad.mit.edu	37	17	7806656	7806656	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:7806656G>T	ENST00000380358.4	+	23	3740	c.3739G>T	c.(3739-3741)Gcg>Tcg	p.A1247S	CHD3_ENST00000330494.7_Missense_Mutation_p.A1188S|CHD3_ENST00000358181.4_Missense_Mutation_p.A1188S	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1188					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				TGTGACTCGCGCGTCAGTGGA	0.582000													16	88					4.7546e-09	6.20387e-09	1	1	0
KLK3	354	broad.mit.edu	37	19	51361807	51361807	+	Missense_Mutation	SNP	A	A	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:51361807A>C	ENST00000360617.3	+	4	586	c.586A>C	c.(586-588)Atg>Ctg	p.M196L	KLK3_ENST00000326003.2_Missense_Mutation_p.M196L|KLK3_ENST00000597483.1_Missense_Mutation_p.M153L|KLK3_ENST00000595952.1_Missense_Mutation_p.M153L|KLK3_ENST00000593997.1_Missense_Mutation_p.M196L			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	196	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GACCAAGTTCATGCTGTGTGC	0.527000													16	150					0	0	1	0	0
HOXD12	3238	broad.mit.edu	37	2	176964532	176964532	+	Translation_Start_Site	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:176964532G>A	ENST00000406506.2	+	1	75	c.3G>A	c.(1-3)atG>atA	p.M1I	HOXD12_ENST00000404162.2_Start_Codon_SNP_p.M1I			P35452	HXD12_HUMAN	homeobox D12	1						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		TGTTGGAGATGTGTGAGCGCA	0.547000													48	138					0	0	1	0	0
OR5L1	219437	broad.mit.edu	37	11	55579352	55579352	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:55579352C>A	ENST00000333973.2	+	1	499	c.410C>A	c.(409-411)tCt>tAt	p.S137Y		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GTCACCATGTCTTGGAAGGTG	0.502000													27	135					7.92952e-12	1.12599e-11	1	1	0
RIMS2	9699	broad.mit.edu	37	8	105261041	105261041	+	Splice_Site	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr8:105261041G>T	ENST00000507740.1	+	19	3267	c.3031_splice	c.e19+1	p.G1011_splice	RIMS2_ENST00000436393.2_Splice_Site_p.G1215_splice|RIMS2_ENST00000406091.3_Splice_Site_p.G1197_splice|RIMS2_ENST00000339750.2_Splice_Site_p.G133_splice|RIMS2_ENST00000262231.10_Splice_Site_p.G1036_splice	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1259					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			ACCTGCAATGGGTAAGAATTT	0.438000										HNSCC(12;0.0054)			17	48					1.5739e-10	2.15727e-10	1	1	0
RNF17	56163	broad.mit.edu	37	13	25418794	25418794	+	Missense_Mutation	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr13:25418794G>C	ENST00000255324.5	+	21	2888	c.2836G>C	c.(2836-2838)Gaa>Caa	p.E946Q	RNF17_ENST00000381921.1_Missense_Mutation_p.E946Q|RNF17_ENST00000339524.3_5'UTR	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	946					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTATAGTTTAGAAGAAAAGAT	0.338000													22	65					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51915070	51915070	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr6:51915070C>T	ENST00000371117.3	-	22	2439	c.2164G>A	c.(2164-2166)Gct>Act	p.A722T	PKHD1_ENST00000340994.4_Missense_Mutation_p.A722T	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	722					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCTGGGCGAGCCGTTCCAGAA	0.537000											OREG0017493	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	44	46					0	0	1	0	0
VCAN	1462	broad.mit.edu	37	5	82875931	82875931	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:82875931G>A	ENST00000265077.3	+	14	10578	c.10013G>A	c.(10012-10014)cGg>cAg	p.R3338Q	VCAN_ENST00000342785.4_Missense_Mutation_p.R1584Q|VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.R2351Q|VCAN_ENST00000502527.2_Missense_Mutation_p.R597Q|VCAN_ENST00000512590.2_Missense_Mutation_p.R1536Q	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3338	Sushi.				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)		CCAACTATCCGGTGCTTAGGA	0.418000													47	70					0	0	1	0	0
CYB5D2	124936	broad.mit.edu	37	17	4047233	4047233	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:4047233C>T	ENST00000301391.3	+	1	684	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C	CYB5D2_ENST00000575251.1_Intron|CYB5D2_ENST00000573984.1_Intron	NM_144611.3	NP_653212.1	Q8WUJ1	NEUFC_HUMAN	cytochrome b5 domain containing 2	62	Cytochrome b5 heme-binding.				nervous system development	extracellular region	heme binding			breast(1)|large_intestine(3)|liver(2)|ovary(1)	7						GTTGCTCGGCCGTGTCTACGA	0.667000													40	28					0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107048012	107048012	+	Silent	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:107048012G>A	ENST00000392842.1	+	4	612	c.198G>A	c.(196-198)gaG>gaA	p.E66E	RFX4_ENST00000357881.4_Silent_p.E75E|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	66					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CTAGGCTGGAGGAGAACTATG	0.488000													18	109					0	0	1	0	0
SNX4	8723	broad.mit.edu	37	3	125166626	125166626	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:125166626C>T	ENST00000251775.4	-	14	1374	c.1350G>A	c.(1348-1350)atG>atA	p.M450I	SNX4_ENST00000536067.1_Missense_Mutation_p.M305I	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	450					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						CACAGGATTACATCTTGCTAA	0.308000													16	66					0	0	1	0	0
FMO1	2326	broad.mit.edu	37	1	171227273	171227273	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:171227273C>A	ENST00000354841.4	+	1	178	c.47C>A	c.(46-48)gCc>gAc	p.A16D	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.A16D|FMO1_ENST00000402921.2_Missense_Mutation_p.A16D			Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	16					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCGGCCTGGCCTCCATCAAG	0.562000													28	71					7.41945e-09	9.52588e-09	1	1	0
LRP1B	53353	broad.mit.edu	37	2	141359163	141359163	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:141359163G>T	ENST00000389484.3	-	42	7816	c.6845C>A	c.(6844-6846)aCa>aAa	p.T2282K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2282					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.T2282R(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCAGTACAGTGTATCCCAGGC	0.448000										TSP Lung(27;0.18)			14	29					1.5739e-10	2.15727e-10	1	1	0
OR4C16	219428	broad.mit.edu	37	11	55339818	55339818	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:55339818C>A	ENST00000314634.3	+	1	215	c.215C>A	c.(214-216)tCt>tAt	p.S72Y		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				ACTTGCCTCTCTACTTCCATA	0.403000													34	195					8.88839e-20	1.48488e-19	1	1	0
PDHA2	5161	broad.mit.edu	37	4	96761333	96761333	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr4:96761333G>T	ENST00000295266.4	+	1	95	c.32G>T	c.(31-33)aGg>aTg	p.R11M		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	11					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CGCGTGTTGAGGCGAGTTGCC	0.547000													7	19					1.06961e-07	1.33233e-07	1	1	0
LCLAT1	253558	broad.mit.edu	37	2	30791030	30791030	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:30791030C>T	ENST00000309052.4	+	6	939	c.730C>T	c.(730-732)Cgt>Tgt	p.R244C	LCLAT1_ENST00000379509.3_Missense_Mutation_p.R206C|LCLAT1_ENST00000359433.1_Missense_Mutation_p.R244C|LCLAT1_ENST00000540623.1_Missense_Mutation_p.R206C|LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000319406.4_Missense_Mutation_p.R244C	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	244					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						TGTGGTAGACCGTCTAAGAGA	0.333000													19	42					0	0	1	0	0
NTRK3	4916	broad.mit.edu	37	15	88423573	88423573	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:88423573C>A	ENST00000394480.1	-	18	2541	c.2220G>T	c.(2218-2220)tgG>tgT	p.W740C	NTRK3_ENST00000355254.2_Missense_Mutation_p.W740C|NTRK3_ENST00000360948.2_Missense_Mutation_p.W754C|NTRK3_ENST00000557856.1_Missense_Mutation_p.W732C|NTRK3_ENST00000357724.2_Missense_Mutation_p.W746C	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	754	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCCCGAAGCTCCATACATCAC	0.512000			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)			17	73					5.01169e-05	5.69328e-05	1	1	0
LCE2D	353141	broad.mit.edu	37	1	152636700	152636700	+	Missense_Mutation	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:152636700G>C	ENST00000368784.1	+	2	174	c.119G>C	c.(118-120)tGt>tCt	p.C40S		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	40	Cys-rich.				keratinization					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGCTCCATGTTCCCCTGCA	0.632000													78	419					0	0	1	0	0
ZP4	57829	broad.mit.edu	37	1	238051771	238051771	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:238051771G>T	ENST00000366570.4	-	4	598	c.440C>A	c.(439-441)cCa>cAa	p.P147Q	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	147	P-type.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GTCCCGTGCTGGGATGGAGTC	0.473000													45	31					4.64027e-19	7.60875e-19	1	1	0
AASS	10157	broad.mit.edu	37	7	121755201	121755201	+	Missense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:121755201C>G	ENST00000393376.1	-	8	1065	c.970G>C	c.(970-972)Gat>Cat	p.D324H	AASS_ENST00000417368.2_Missense_Mutation_p.D324H|AASS_ENST00000473553.1_Intron			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	324	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTCTGAGCATCTTGGCGGGTT	0.493000													34	70					0	0	1	0	0
TRBV27	28560	broad.mit.edu	37	7	142423407	142423407	+	RNA	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:142423407C>A	ENST00000506718.1	+	0	415				TRBV27_ENST00000390399.3_RNA																							CCCTGGAAGCCCAAGTGACCC	0.498000													33	71					3.90053e-15	5.91747e-15	1	1	0
CR1	1378	broad.mit.edu	37	1	207782941	207782941	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:207782941G>T	ENST00000367049.4	+	37	6203	c.6203G>T	c.(6202-6204)aGa>aTa	p.R2068I	CR1_ENST00000400960.2_Missense_Mutation_p.R1618I|CR1_ENST00000367052.1_Missense_Mutation_p.R1618I|CR1_ENST00000367051.1_Missense_Mutation_p.R1618I|CR1_ENST00000367053.1_Missense_Mutation_p.R1618I	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1618					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATCAGATTTAGATGTCAGCCC	0.488000													4	26					0.00024832	0.000274622	1	1	0
ECHDC3	79746	broad.mit.edu	37	10	11805529	11805529	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr10:11805529C>T	ENST00000379215.4	+	5	1109	c.898C>T	c.(898-900)Cac>Tac	p.H300Y	ECHDC3_ENST00000496136.1_3'UTR	NM_024693.4	NP_078969.2	Q96DC8	ECHD3_HUMAN	enoyl CoA hydratase domain containing 3	300						mitochondrion	catalytic activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)	4						TGTCTGGTCACACGAGCCAGT	0.642000													5	4					0	0	1	0	0
EPB42	2038	broad.mit.edu	37	15	43489612	43489612	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:43489612G>T	ENST00000300215.3	-	13	2511	c.2054C>A	c.(2053-2055)aCg>aAg	p.T685K	EPB42_ENST00000441366.2_Missense_Mutation_p.T655K|EPB42_ENST00000563128.1_Intron|EPB42_ENST00000540029.1_Missense_Mutation_p.T577K			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	655					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ATGTGTTGGCGTGAACTGGAA	0.498000													20	46					4.96729e-08	6.23105e-08	1	1	0
MGAT3	4248	broad.mit.edu	37	22	39884731	39884731	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr22:39884731G>T	ENST00000341184.6	+	2	1594	c.1379G>T	c.(1378-1380)cGc>cTc	p.R460L		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	460					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GGCCTGATCCGCACCGGGGGC	0.632000													15	19					0.000422831	0.000464004	1	1	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77510083	77510083	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:77510083C>A	ENST00000477717.1	+	3	691	c.456C>A	c.(454-456)atC>atA	p.I152I		NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	152					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						TCCAGAGGATCCTCCGCAACC	0.642000													11	72					1.08611e-07	1.34814e-07	1	1	0
GAD2	2572	broad.mit.edu	37	10	26507976	26507976	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr10:26507976G>T	ENST00000376261.3	+	4	794	c.291G>T	c.(289-291)ctG>ctT	p.L97L	GAD2_ENST00000376248.1_5'UTR|GAD2_ENST00000259271.3_Silent_p.L97L	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	97					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	CTTTAGACCTGCTGCCGGCGT	0.363000													13	50					0.000151284	0.000168887	1	1	0
NOV	4856	broad.mit.edu	37	8	120431371	120431371	+	Splice_Site	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr8:120431371C>T	ENST00000259526.3	+	4	790	c.562_splice	c.e4-1	p.A188_splice		NM_002514.3	NP_002505.1	P48745	NOV_HUMAN	nephroblastoma overexpressed	188					regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATCCCATAGCTTACAGGCCA	0.453000													22	106					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25258556	25258556	+	Missense_Mutation	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr8:25258556G>C	ENST00000276440.7	+	47	4944	c.4900G>C	c.(4900-4902)Gaa>Caa	p.E1634Q		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1634	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGAGAAAGTAGAAAAGCACTA	0.463000													105	102					0	0	1	0	0
SLC2A4	6517	broad.mit.edu	37	17	7186801	7186801	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:7186801C>A	ENST00000317370.8	+	3	428	c.160C>A	c.(160-162)Cag>Aag	p.Q54K	RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000424875.2_Missense_Mutation_p.Q44K|SLC2A4_ENST00000571308.1_Missense_Mutation_p.Q54K	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	54					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						GGTGATTGAACAGAGCTACAA	0.642000													16	125					1.15088e-07	1.42356e-07	1	1	0
EPB42	2038	broad.mit.edu	37	15	43507498	43507498	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:43507498G>T	ENST00000300215.3	-	3	772	c.315C>A	c.(313-315)acC>acA	p.T105T	EPB42_ENST00000441366.2_Silent_p.T75T|EPB42_ENST00000540029.1_Intron			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	75					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ATGTGGCTTGGGTCCTGTTGA	0.527000													13	62					0.00010058	0.000112637	1	1	0
SLC8A1	6546	broad.mit.edu	37	2	40656544	40656544	+	Missense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:40656544C>G	ENST00000406785.1	-	2	1066	c.877G>C	c.(877-879)Ggg>Cgg	p.G293R	SLC8A1_ENST00000542756.1_Missense_Mutation_p.G293R|SLC8A1_ENST00000542024.1_Missense_Mutation_p.G293R|SLC8A1_ENST00000408028.2_Missense_Mutation_p.G293R|SLC8A1_ENST00000406391.2_Missense_Mutation_p.G293R|SLC8A1_ENST00000405901.3_Missense_Mutation_p.G293R|SLC8A1_ENST00000405269.1_Missense_Mutation_p.G293R|SLC8A1_ENST00000403092.1_Missense_Mutation_p.G293R|SLC8A1_ENST00000402441.1_Missense_Mutation_p.G293R|SLC8A1_ENST00000332839.4_Missense_Mutation_p.G293R			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	293					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACCACTTTCCCGTCCATTTCA	0.443000													74	250					0	0	1	0	0
BCHE	590	broad.mit.edu	37	3	165548009	165548009	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:165548009C>A	ENST00000264381.3	-	2	979	c.813G>T	c.(811-813)acG>acT	p.T271T	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	271			T -> M (in BChE deficiency; allele fluoride-1; dbSNP:rs28933389).		choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CTAAGTTCAACGTTCTGTTCC	0.403000													31	88					3.00307e-07	3.68252e-07	1	1	0
GRID1	2894	broad.mit.edu	37	10	87362240	87362240	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr10:87362240G>T	ENST00000327946.7	-	16	2905	c.2820C>A	c.(2818-2820)agC>agA	p.S940R	GRID1_ENST00000552278.2_5'UTR|GRID1_ENST00000536331.1_Missense_Mutation_p.S511R	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	940						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	AGAGTGTCCGGCTGGTGCCAT	0.652000										Multiple Myeloma(13;0.14)			22	41					3.5997e-14	5.3693e-14	1	1	0
NPY2R	4887	broad.mit.edu	37	4	156135542	156135542	+	Missense_Mutation	SNP	T	T	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr4:156135542T>C	ENST00000329476.3	+	2	940	c.451T>C	c.(451-453)Tgc>Cgc	p.C151R	NPY2R_ENST00000506608.1_Missense_Mutation_p.C151R	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	151					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CCGGCACAGGTGCATCGTCTA	0.572000													35	33					0	0	1	0	0
ADAMTS14	140766	broad.mit.edu	37	10	72520271	72520271	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr10:72520271C>A	ENST00000373208.1	+	22	3343	c.3343C>A	c.(3343-3345)Ccc>Acc	p.P1115T	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.P1112T	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1112	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						aaccTCACTGCCCCCCTTCTC	0.637000													9	56					0.000274275	0.000301915	1	1	0
NOL6	65083	broad.mit.edu	37	9	33465806	33465806	+	Silent	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr9:33465806C>T	ENST00000379471.2	-	19	2541	c.2454G>A	c.(2452-2454)ctG>ctA	p.L818L	NOL6_ENST00000464829.1_Intron|NOL6_ENST00000455041.2_Silent_p.L766L			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	818					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CTGTGTCCCTCAGCGAGATCA	0.592000													12	23					0	0	1	0	0
CHSY1	22856	broad.mit.edu	37	15	101775672	101775672	+	Missense_Mutation	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:101775672G>C	ENST00000254190.3	-	2	906	c.431C>G	c.(430-432)cCg>cGg	p.P144R		NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	144					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTTCTGGGGCGGGTAGGAGTC	0.468000													30	106					0	0	1	0	0
TRGV2	6974	broad.mit.edu	37	7	38403051	38403051	+	RNA	SNP	G	G	C	rs4993385	by1000genomes	TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:38403051G>C	ENST00000426402.2	-	0	68																											GTAGGAGGAGGTGGTCTTCCT	0.527000													4	21					0	0	1	0	0
NT5DC1	221294	broad.mit.edu	37	6	116542390	116542390	+	Splice_Site	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr6:116542390G>T	ENST00000319550.4	+	7	785	c.704_splice	c.e7+1	p.G235_splice		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	235							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		ATATATTCTTGGGTGAGTGAT	0.358000													38	63					1.60099e-16	2.50927e-16	1	1	0
UNC13C	440279	broad.mit.edu	37	15	54306214	54306214	+	Missense_Mutation	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:54306214G>C	ENST00000545554.1	+	1	1114	c.1114G>C	c.(1114-1116)Gca>Cca	p.A372P	UNC13C_ENST00000537900.1_Missense_Mutation_p.A372P|UNC13C_ENST00000260323.11_Missense_Mutation_p.A372P			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	372					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGCCCAAATGCAAAGCCTCG	0.383000													9	43					0	0	1	0	0
SF3B1	23451	broad.mit.edu	37	2	198260781	198260781	+	Splice_Site	SNP	T	T	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:198260781T>G	ENST00000335508.5	-	23	3629	c.3539_splice	c.e23+1	p.R1180_splice		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	1180					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTCACTTACCTATCCATTAAA	0.303000			Mis		myelodysplastic syndrome								34	113					0	0	1	0	0
KALRN	8997	broad.mit.edu	37	3	123953765	123953765	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:123953765G>T	ENST00000360013.3	+	3	359	c.232G>T	c.(232-234)Gtg>Ttg	p.V78L	KALRN_ENST00000460856.1_Missense_Mutation_p.V78L|KALRN_ENST00000240874.3_Missense_Mutation_p.V78L	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	78	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCGGAAACTCGTGACGTATTT	0.592000													6	15					0.0215528	0.0223068	1	1	0
ACACA	31	broad.mit.edu	37	17	35445976	35445976	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:35445976C>A	ENST00000353139.5	-	55	7406	c.6925G>T	c.(6925-6927)Gag>Tag	p.E2309*	ACACA_ENST00000394406.2_Nonsense_Mutation_p.E2272*|ACACA_ENST00000360679.3_Nonsense_Mutation_p.E2214*|ACACA_ENST00000335166.5_Nonsense_Mutation_p.E2194*|ACACA_ENST00000361253.5_Nonsense_Mutation_p.E398*	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2272					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCTAGCCACTCCGCCAGATCC	0.498000													31	189					1.7881e-09	2.36416e-09	1	1	0
TRIM49	57093	broad.mit.edu	37	11	89531792	89531792	+	Missense_Mutation	SNP	T	T	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:89531792T>C	ENST00000329758.1	-	8	1193	c.865A>G	c.(865-867)Att>Gtt	p.I289V	TRIM49_ENST00000532501.2_Missense_Mutation_p.I212V	NM_020358.2	NP_065091.1	P0CI25	TRI49_HUMAN	tripartite motif containing 49	289	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGCAGAGTAATATGCACTGCA	0.303000													10	67					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179495636	179495636	+	Missense_Mutation	SNP	A	A	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:179495636A>T	ENST00000589042.1	-	238	44273	c.44049T>A	c.(44047-44049)agT>agA	p.S14683R	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S5743R|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S12115R|TTN_ENST00000591111.1_Missense_Mutation_p.S13042R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S5618R|TTN_ENST00000342175.6_Missense_Mutation_p.S5810R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13042	Ig-like 96.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACCTCCACACTGTGCAGGG	0.498000													30	72					0	0	1	0	0
MOCOS	55034	broad.mit.edu	37	18	33780028	33780028	+	Missense_Mutation	SNP	A	A	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr18:33780028A>T	ENST00000261326.5	+	4	703	c.682A>T	c.(682-684)Agc>Tgc	p.S228C		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	228					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	GCACCCTGTGAGCACGCCTGG	0.577000													26	79					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415208	105415208	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr14:105415208C>A	ENST00000333244.5	-	7	6699	c.6580G>T	c.(6580-6582)Ggg>Tgg	p.G2194W	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2194						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTGAGGTCCCCCTGCATGGAG	0.642000													33	101					2.75727e-19	4.57398e-19	1	1	0
TRPC4	7223	broad.mit.edu	37	13	38225452	38225452	+	Missense_Mutation	SNP	A	A	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr13:38225452A>T	ENST00000379705.3	-	8	2886	c.2029T>A	c.(2029-2031)Ttg>Atg	p.L677M	TRPC4_ENST00000447043.1_Missense_Mutation_p.L677M|TRPC4_ENST00000355779.2_Missense_Mutation_p.L677M|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000358477.2_Missense_Mutation_p.L677M|TRPC4_ENST00000379681.3_Missense_Mutation_p.L677M|TRPC4_ENST00000338947.5_Missense_Mutation_p.L504M|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000379679.1_Missense_Mutation_p.L504M			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	677	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTCTTGCACAAGTGTGTCCAG	0.398000													27	41					0	0	1	0	0
TTLL13P	440307	broad.mit.edu	37	15	90796525	90796525	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:90796525G>T	ENST00000561573.1	+	4	607	c.343G>T	c.(343-345)Gat>Tat	p.D115Y	TTLL13_ENST00000339615.5_Missense_Mutation_p.D115Y|TTLL13_ENST00000438251.1_Missense_Mutation_p.D115Y																							GGTGGGGGAGGATGAAGAGTG	0.572000													6	22					0.0215528	0.0223068	1	1	0
PIF1	80119	broad.mit.edu	37	15	65111421	65111421	+	Splice_Site	SNP	A	A	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:65111421A>T	ENST00000268043.4	-	9	1429	c.1333_splice	c.e9-1	p.G445_splice	PIF1_ENST00000559239.1_Splice_Site_p.G445_splice|PIF1_ENST00000333425.6_Splice_Site_p.G445_splice			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	445	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						TGTGTACCTTACCTGGAGAAA	0.418000													5	28					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087744	92087744	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:92087744G>T	ENST00000298047.6	+	1	2483	c.2466G>T	c.(2464-2466)gaG>gaT	p.E822D	FAT3_ENST00000541502.1_Missense_Mutation_p.E822D|FAT3_ENST00000409404.2_Missense_Mutation_p.E822D|FAT3_ENST00000525166.1_Missense_Mutation_p.E672D			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	822	Cadherin 7.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCAATGTGGAGGATGCTAATG	0.403000										TCGA Ovarian(4;0.039)			28	60					4.7796e-09	6.20387e-09	1	1	0
TCEAL5	340543	broad.mit.edu	37	X	102529223	102529223	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chrX:102529223G>T	ENST00000372680.1	-	3	563	c.269C>A	c.(268-270)cCa>cAa	p.P90Q		NM_001012979.2	NP_001012997.1	Q5H9L2	TCAL5_HUMAN	transcription elongation factor A (SII)-like 5	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						CTGGGAGGCTGGCTTGCCCTC	0.592000													88	59					6.07207e-39	1.14052e-38	1	1	0
CEL	1056	broad.mit.edu	37	9	135945962	135945962	+	Silent	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr9:135945962C>T	ENST00000372080.4	+	10	1426	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	CEL_ENST00000351304.7_Intron	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	467					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GGAAGCCCTTCGCCACCCCCA	0.582000													27	144					0	0	1	0	0
ZNF679	168417	broad.mit.edu	37	7	63720684	63720684	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:63720684G>T	ENST00000421025.1	+	3	394	c.125G>T	c.(124-126)aGa>aTa	p.R42I	ZNF679_ENST00000255746.4_Missense_Mutation_p.R42I	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	42	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AATTTATATAGAGATGTGATG	0.383000													16	118					1.37285e-15	2.1098e-15	1	1	0
CPS1	1373	broad.mit.edu	37	2	211542681	211542681	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:211542681G>T	ENST00000233072.5	+	38	4671	c.4475G>T	c.(4474-4476)aGg>aTg	p.R1492M	CPS1_ENST00000451903.2_Missense_Mutation_p.R1041M|CPS1_ENST00000430249.2_Missense_Mutation_p.R1498M	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	1492					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TTCCACTACAGGCAGTACAGT	0.448000													69	205					8.3131e-28	1.48673e-27	1	1	0
PVRL4	81607	broad.mit.edu	37	1	161047401	161047401	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:161047401G>A	ENST00000368012.3	-	3	874	c.572C>T	c.(571-573)aCg>aTg	p.T191M		NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	191	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			ACGGCTGGACGTTGTGCCTTT	0.637000													27	111					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139189617	139189617	+	Missense_Mutation	SNP	A	A	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr8:139189617A>G	ENST00000395297.1	-	11	1246	c.1076T>C	c.(1075-1077)cTt>cCt	p.L359P		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	359								p.L359P(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAGGACTGCAAGTTTTTGGTG	0.418000										HNSCC(54;0.14)			11	43					0	0	1	0	0
PCDH11X	27328	broad.mit.edu	37	X	91456418	91456418	+	Silent	SNP	T	T	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chrX:91456418T>A	ENST00000373094.1	+	3	3923	c.3078T>A	c.(3076-3078)tcT>tcA	p.S1026S	PCDH11X_ENST00000373088.1_Intron|PCDH11X_ENST00000504220.1_Silent_p.S1026S|PCDH11X_ENST00000361655.2_Silent_p.S1026S|PCDH11X_ENST00000298274.8_Intron|PCDH11X_ENST00000373097.1_Silent_p.S1026S|PCDH11X_ENST00000406881.1_Silent_p.S1026S	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1026					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGAAAGAGTCTACAACTATGG	0.368000													24	18					0	0	1	0	0
IGSF1	3547	broad.mit.edu	37	X	130407893	130407893	+	Silent	SNP	T	T	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chrX:130407893T>G	ENST00000370904.1	-	26	4771	c.3861A>C	c.(3859-3861)acA>acC	p.T1287T	IGSF1_ENST00000370910.1_Silent_p.T1287T|IGSF1_ENST00000361420.3_Silent_p.T1296T|IGSF1_ENST00000370903.3_Silent_p.T1301T			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1296					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTCTTCCGTCTGTCTCTGAGC	0.488000													84	66					0	0	1	0	0
FPR1	2357	broad.mit.edu	37	19	52249799	52249799	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:52249799C>A	ENST00000595042.1	-	3	590	c.449G>T	c.(448-450)tGg>tTg	p.W150L	FPR1_ENST00000304748.4_Missense_Mutation_p.W150L	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	150					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	AGCCATCACCCAGGGCCCAAT	0.557000													35	85					4.3181e-19	7.11334e-19	1	1	0
KRTAP21-1	337977	broad.mit.edu	37	21	32127495	32127495	+	Silent	SNP	G	G	T	rs149639659	by1000genomes	TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr21:32127495G>T	ENST00000335093.3	-	1	251	c.202C>A	c.(202-204)Cgg>Agg	p.R68R		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	68						intermediate filament				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						CAAAATGGCCGGTAGCCACAG	0.478000													55	146					2.01807e-28	3.63662e-28	1	1	0
ASIC3	9311	broad.mit.edu	37	7	150747242	150747242	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:150747242G>T	ENST00000357922.4	+	2	1178	c.584G>T	c.(583-585)gGg>gTg	p.G195V	ASIC3_ENST00000349064.5_Missense_Mutation_p.G195V|ASIC3_ENST00000297512.8_Missense_Mutation_p.G195V	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN	acid-sensing (proton-gated) ion channel 3	195					sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity										GGCGCTGATGGGGCAGAGCTG	0.582000													25	84					3.28513e-13	4.79926e-13	1	1	0
PRSS55	203074	broad.mit.edu	37	8	10388886	10388886	+	Silent	SNP	T	T	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr8:10388886T>A	ENST00000328655.3	+	3	469	c.429T>A	c.(427-429)atT>atA	p.I143I	PRSS55_ENST00000522210.1_Silent_p.I143I|PRSS51_ENST00000523024.1_RNA	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	143	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CCAGCATCATTCTTCACAAAG	0.517000													90	112					0	0	1	0	0
FGF23	8074	broad.mit.edu	37	12	4479658	4479658	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:4479658G>T	ENST00000237837.1	-	3	752	c.607C>A	c.(607-609)Ccg>Acg	p.P203T		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	203					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			CAGGAGGCCGGGGCCGGGGTC	0.706000													14	31					4.36969e-10	5.90949e-10	1	1	0
OR4C6	219432	broad.mit.edu	37	11	55433083	55433083	+	Nonsense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:55433083G>A	ENST00000314259.3	+	1	470	c.441G>A	c.(439-441)tgG>tgA	p.W147*		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GAGGGGCTTGGGTGGGGGGAT	0.473000													58	96					0	0	1	0	0
CAMK2B	816	broad.mit.edu	37	7	44268414	44268414	+	Silent	SNP	T	T	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:44268414T>A	ENST00000395749.2	-	19	1525	c.1449A>T	c.(1447-1449)ctA>ctT	p.L483L	CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000457475.1_Intron|CAMK2B_ENST00000502837.2_Intron|CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000358707.3_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	483					interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						ACAGGGGGCCTAGGAGAGCCG	0.682000													6	10					0	0	1	0	0
OR1L8	138881	broad.mit.edu	37	9	125329928	125329928	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr9:125329928C>A	ENST00000304865.2	-	1	910	c.829G>T	c.(829-831)Gtt>Ttt	p.V277F		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						ACTGTGTAAACAATTGTTGCC	0.453000													16	98					1.3612e-06	1.61345e-06	1	1	0
ZNF267	10308	broad.mit.edu	37	16	31927731	31927731	+	Missense_Mutation	SNP	T	T	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr16:31927731T>G	ENST00000300870.10	+	4	2370	c.2161T>G	c.(2161-2163)Tgt>Ggt	p.C721G	RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	721					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						ATGTGAAGAATGTGGCAAAGC	0.383000													13	41					0	0	1	0	0
PLIN5	440503	broad.mit.edu	37	19	4523626	4523626	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:4523626C>A	ENST00000381848.3	-	8	1386	c.1306G>T	c.(1306-1308)Ggt>Tgt	p.G436C		NM_001013706.2	NP_001013728.2	Q00G26	PLIN5_HUMAN	perilipin 5	436						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CCGGCAACACCCATCCTGTCC	0.687000											OREG0025168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	63	89					2.44918e-20	4.14029e-20	1	1	0
BCAM	4059	broad.mit.edu	37	19	45317416	45317416	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:45317416G>T	ENST00000391955.1	+	7	836	c.792G>T	c.(790-792)acG>acT	p.T264T	BCAM_ENST00000270233.6_Silent_p.T264T			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	264					cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TAGATCCCACGGAGCACGTGC	0.657000													40	109					9.73076e-26	1.71862e-25	1	1	0
GTF3C1	2975	broad.mit.edu	37	16	27475893	27475893	+	Missense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr16:27475893C>G	ENST00000356183.4	-	34	5635	c.5620G>C	c.(5620-5622)Gac>Cac	p.D1874H	GTF3C1_ENST00000561623.1_Missense_Mutation_p.D1874H	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1874						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCCTCGGCGTCGGTCTCCCCA	0.682000													37	62					0	0	1	0	0
VSIG8	391123	broad.mit.edu	37	1	159827942	159827942	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:159827942G>A	ENST00000368100.1	-	3	503	c.368C>T	c.(367-369)aCt>aTt	p.T123I	RP11-190A12.7_ENST00000544342.1_Intron	NM_001013661.1	NP_001013683.1	Q5VU13	VSIG8_HUMAN	V-set and immunoglobulin domain containing 8	123	Ig-like V-type 1.					integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					GCACTCATAAGTGGCTGTATC	0.567000													31	61					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41711093	41711093	+	Missense_Mutation	SNP	T	T	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr21:41711093T>A	ENST00000400454.1	-	7	1937	c.1460A>T	c.(1459-1461)aAc>aTc	p.N487I		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	487	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CGCCGAGTTGTTGGCAGTGCA	0.542000													13	67					0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237872779	237872779	+	Splice_Site	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:237872779G>T	ENST00000366574.2	+	70	10459		c.e70-1		RYR2_ENST00000542537.1_Splice_Site|RYR2_ENST00000360064.6_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGTGATCCAGGGCAAAGTGG	0.423000													4	9					0.150653	0.152588	1	1	0
MS4A12	54860	broad.mit.edu	37	11	60264873	60264873	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:60264873C>A	ENST00000016913.4	+	2	139	c.82C>A	c.(82-84)Cct>Act	p.P28T	MS4A12_ENST00000525951.1_3'UTR|MS4A12_ENST00000537076.1_Missense_Mutation_p.P28T	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	28						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						CTTTATGGCTCCTGGATTTCA	0.478000													32	127					1.99505e-19	3.3173e-19	1	1	0
KIAA0368	23392	broad.mit.edu	37	9	114156556	114156556	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr9:114156556C>A	ENST00000259335.4	-	27	3339	c.3340G>T	c.(3340-3342)Gtg>Ttg	p.V1114L	KIAA0368_ENST00000374378.3_5'UTR|KIAA0368_ENST00000338205.5_Missense_Mutation_p.V936L	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						ACATCCAACACCCATGGAACC	0.398000													7	18					5.4927e-09	7.11646e-09	1	1	0
CDH9	1007	broad.mit.edu	37	5	26915837	26915837	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:26915837C>A	ENST00000231021.4	-	3	596	c.424G>T	c.(424-426)Gaa>Taa	p.E142*		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	142	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E142*(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AATTCCGATTCCGGTTCCACC	0.398000													66	123					4.83677e-39	9.10904e-39	1	1	0
ALMS1	7840	broad.mit.edu	37	2	73799566	73799566	+	Missense_Mutation	SNP	A	A	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:73799566A>G	ENST00000264448.6	+	16	10670	c.10559A>G	c.(10558-10560)aAa>aGa	p.K3520R	ALMS1_ENST00000409009.1_Missense_Mutation_p.K3478R	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3520					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CATCCAGACAAACATAGAGAA	0.373000													34	59					0	0	1	0	0
ZNF813	126017	broad.mit.edu	37	19	53993751	53993751	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:53993751G>T	ENST00000396403.4	+	4	393	c.265G>T	c.(265-267)Gaa>Taa	p.E89*	ZNF813_ENST00000396421.4_Intron	NM_001004301.3	NP_001004301.2	Q6ZN06	ZN813_HUMAN	zinc finger protein 813	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		TCGCTTTCAGGAAATTGATAA	0.398000													63	145					7.10663e-31	1.30044e-30	1	1	0
TTN	7273	broad.mit.edu	37	2	179474468	179474468	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:179474468C>A	ENST00000589042.1	-	272	51906	c.51682G>T	c.(51682-51684)Gcg>Tcg	p.A17228S	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A8288S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A14660S|TTN_ENST00000591111.1_Missense_Mutation_p.A15587S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A8163S|TTN_ENST00000342175.6_Missense_Mutation_p.A8355S|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15587	Fibronectin type-III 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTAATACCCGCGGCGTTCTCT	0.468000													109	229					6.16109e-32	1.13033e-31	1	1	0
AUTS2	26053	broad.mit.edu	37	7	69364338	69364338	+	Nonsense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:69364338C>T	ENST00000342771.4	+	2	697	c.376C>T	c.(376-378)Cga>Tga	p.R126*	AUTS2_ENST00000406775.2_Nonsense_Mutation_p.R126*|AUTS2_ENST00000403018.2_Nonsense_Mutation_p.R126*	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	126										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CAAGAAGAAACGAGAAGCACT	0.483000													52	81					0	0	1	0	0
GPR150	285601	broad.mit.edu	37	5	94956180	94956180	+	Silent	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:94956180G>C	ENST00000380007.2	+	1	399	c.201G>C	c.(199-201)ctG>ctC	p.L67L		NM_199243.1	NP_954713.1	Q8NGU9	GP150_HUMAN	G protein-coupled receptor 150	67						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(2)	2		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		TGTGCCGCCTGTgcggcggcg	0.746000													4	5					0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735685	55735685	+	Silent	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:55735685C>T	ENST00000312345.2	-	1	305	c.255G>A	c.(253-255)ttG>ttA	p.L85L		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					CACAAGCAAACAAAGAAATAT	0.383000													18	87					0	0	1	0	0
ANXA13	312	broad.mit.edu	37	8	124710642	124710642	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr8:124710642G>T	ENST00000262219.6	-	5	534	c.467C>A	c.(466-468)aCg>aAg	p.T156K	ANXA13_ENST00000419625.1_Missense_Mutation_p.T115K	NM_001003954.1	NP_001003954.1	P27216	ANX13_HUMAN	annexin A13	115					cell differentiation	plasma membrane	calcium ion binding|calcium-dependent phospholipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			ATTGGTCCTCGTGCACAGGAC	0.607000													44	145					1.62957e-23	2.84974e-23	1	1	0
KRT10	3858	broad.mit.edu	37	17	38978410	38978410	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:38978410G>T	ENST00000269576.5	-	1	437	c.428C>A	c.(427-429)tCt>tAt	p.S143Y	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412.3	P13645	K1C10_HUMAN	keratin 10	143	Gly-rich.|Head.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				TTCATTTCCAGAGAGAAGGCC	0.537000													10	66					0.000442599	0.000482712	1	1	0
SULF2	55959	broad.mit.edu	37	20	46313216	46313216	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr20:46313216G>A	ENST00000359930.4	-	6	1698	c.847C>T	c.(847-849)Cgc>Tgc	p.R283C	SULF2_ENST00000467815.1_Missense_Mutation_p.R283C|SULF2_ENST00000361612.4_Missense_Mutation_p.R283C|CTD-2653D5.1_ENST00000526566.2_RNA|SULF2_ENST00000484875.1_Missense_Mutation_p.R283C	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	283					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GTCTGCAAGCGCTTCCGCTGG	0.627000													12	14					0	0	1	0	0
SH3BP4	23677	broad.mit.edu	37	2	235962337	235962337	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:235962337G>T	ENST00000409212.1	+	6	3276	c.2769G>T	c.(2767-2769)aaG>aaT	p.K923N	SH3BP4_ENST00000344528.4_Missense_Mutation_p.K923N|SH3BP4_ENST00000392011.2_Missense_Mutation_p.K923N			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	923					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		GCCTGGACAAGATGAAAAACC	0.582000													54	167					9.22156e-22	1.58915e-21	1	1	0
OVCH1	341350	broad.mit.edu	37	12	29640681	29640681	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:29640681G>T	ENST00000318184.5	-	7	836	c.837C>A	c.(835-837)ggC>ggA	p.G279G		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	279	Peptidase S1 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					tggagaaaatgccaagtgatg	0.448000													7	10					0.0293803	0.030364	1	1	0
COL3A1	1281	broad.mit.edu	37	2	189873722	189873722	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:189873722G>T	ENST00000304636.3	+	48	3768	c.3598G>T	c.(3598-3600)Gtt>Ttt	p.V1200F	COL3A1_ENST00000317840.5_Missense_Mutation_p.V897F	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1200	Nonhelical region (C-terminal).				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGTGGTGGTGTTGGAGCCGC	0.542000													42	88					5.04308e-16	7.81787e-16	1	1	0
TBC1D14	57533	broad.mit.edu	37	4	7026818	7026818	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr4:7026818G>T	ENST00000409757.4	+	13	1969	c.1845G>T	c.(1843-1845)ctG>ctT	p.L615L	TBC1D14_ENST00000448507.1_Silent_p.L615L|TBC1D14_ENST00000451522.2_Silent_p.L335L|TBC1D14_ENST00000410031.1_Silent_p.L387L|TBC1D14_ENST00000446947.2_Silent_p.L262L	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	615						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						AAGAGTTCCTGTTCCGCACGG	0.557000													78	98					1.94393e-27	3.46782e-27	1	1	0
PRDM10	56980	broad.mit.edu	37	11	129812525	129812525	+	Splice_Site	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:129812525C>A	ENST00000358825.5	-	7	994		c.e7-1		PRDM10_ENST00000304538.6_Splice_Site|PRDM10_ENST00000526082.1_Splice_Site|PRDM10_ENST00000528746.1_Splice_Site|PRDM10_ENST00000360871.3_Splice_Site|PRDM10_ENST00000423662.2_Splice_Site	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CAAGAGAAACCTGCACGAAAA	0.348000													16	46					2.32078e-09	3.0514e-09	1	1	0
WASH6P	653440	broad.mit.edu	37	X	155252868	155252868	+	RNA	SNP	T	T	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chrX:155252868T>A	ENST00000285718.7	+	0	819				WASH6P_ENST00000461007.1_RNA														p.P304P(5)									TAGCCGAGCCTCTCAAGGCAG	0.632000													3	21					0	0	1	0	0
ZNF350	59348	broad.mit.edu	37	19	52472297	52472297	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:52472297C>A	ENST00000243644.4	-	3	330	c.103G>T	c.(103-105)Gat>Tat	p.D35Y	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA|ZNF350_ENST00000600703.1_5'UTR	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	35	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		AACATCACATCCCGGTACAGG	0.547000													66	148					5.08636e-23	8.85127e-23	1	1	0
DACH1	1602	broad.mit.edu	37	13	72131182	72131182	+	Missense_Mutation	SNP	T	T	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr13:72131182T>C	ENST00000305425.4	-	6	1972	c.1550A>G	c.(1549-1551)gAg>gGg	p.E517G	DACH1_ENST00000359684.2_Missense_Mutation_p.E569G|DACH1_ENST00000313174.7_Intron|DACH1_ENST00000354591.4_Intron	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	567					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CCTTTTTGACTCATGTCCCAT	0.388000													35	54					0	0	1	0	0
NAGK	55577	broad.mit.edu	37	2	71297697	71297697	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:71297697G>A	ENST00000244204.5	+	2	501	c.95G>A	c.(94-96)gGa>gAa	p.G32E	NAGK_ENST00000418807.3_Intron|NAGK_ENST00000428360.2_3'UTR|NAGK_ENST00000455662.2_Missense_Mutation_p.G78E	NM_017567.4	NP_060037.3	Q9UJ70	NAGK_HUMAN	N-acetylglucosamine kinase	32					N-acetylglucosamine metabolic process|N-acetylmannosamine metabolic process		ATP binding|N-acetylglucosamine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|urinary_tract(1)	18					N-Acetyl-D-glucosamine(DB00141)	GAAGCAGATGGACTGAGCACA	0.512000											OREG0014689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	11	46					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82546111	82546111	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:82546111C>A	ENST00000423517.2	-	7	11528	c.11191G>T	c.(11191-11193)Gag>Tag	p.E3731*	PCLO_ENST00000437081.1_Nonsense_Mutation_p.E451*|PCLO_ENST00000333891.8_Nonsense_Mutation_p.E3731*	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	3662					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						GTGGAAATCTCCTCAGGAGGT	0.433000													21	89					3.62473e-10	4.91137e-10	1	1	0
KIAA1377	57562	broad.mit.edu	37	11	101786119	101786119	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:101786119G>T	ENST00000263468.8	+	1	374	c.104G>T	c.(103-105)gGg>gTg	p.G35V	ANGPTL5_ENST00000334289.3_Intron	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	35							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAGAGCGGCGGGCATCACCGA	0.632000													72	165					1.04643e-32	1.92977e-32	1	1	0
AHNAK2	113146	broad.mit.edu	37	14	105421043	105421043	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr14:105421043C>T	ENST00000333244.5	-	7	864	c.745G>A	c.(745-747)Ggg>Agg	p.G249R		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	249						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGCCTCTCCCCACCCTTGGT	0.572000													9	14					0	0	1	0	0
ALMS1	7840	broad.mit.edu	37	2	73717765	73717765	+	Silent	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:73717765C>T	ENST00000264448.6	+	10	8787	c.8676C>T	c.(8674-8676)gcC>gcT	p.A2892A	ALMS1_ENST00000409009.1_Silent_p.A2850A	NM_015120.4	NP_055935.4	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2892					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAAGCAAAGCCCCACGTGCAG	0.423000													70	235					0	0	1	0	0
SERPINA12	145264	broad.mit.edu	37	14	94964292	94964292	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr14:94964292C>A	ENST00000341228.2	-	3	1238	c.443G>T	c.(442-444)cGt>cTt	p.R148L	SERPINA12_ENST00000556881.1_Missense_Mutation_p.R148L	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	148					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		CAAAAACTTACGCTGTGGCTG	0.468000													50	113					4.64027e-19	7.60875e-19	1	1	0
NTRK2	4915	broad.mit.edu	37	9	87636221	87636221	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr9:87636221C>A	ENST00000376214.1	+	21	3324	c.2386C>A	c.(2386-2388)Cag>Aag	p.Q796K	NTRK2_ENST00000376213.1_Missense_Mutation_p.Q780K|NTRK2_ENST00000323115.4_Missense_Mutation_p.Q780K|NTRK2_ENST00000277120.3_Missense_Mutation_p.Q796K	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	780	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						CACGTGCCCCCAGGAGGTGTA	0.567000										TSP Lung(25;0.17)			11	34					4.68919e-08	5.89261e-08	1	1	0
USP45	85015	broad.mit.edu	37	6	99893964	99893964	+	Missense_Mutation	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr6:99893964G>C	ENST00000327681.6	-	14	2216	c.1684C>G	c.(1684-1686)Ctt>Gtt	p.L562V	USP45_ENST00000392738.2_Missense_Mutation_p.L242V|USP45_ENST00000500704.2_Missense_Mutation_p.L562V|USP45_ENST00000369233.2_Missense_Mutation_p.L514V|USP45_ENST00000539675.1_Intron	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	562					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CTCAAACGAAGTTCAGAAATA	0.413000													23	40					0	0	1	0	0
TRAK1	22906	broad.mit.edu	37	3	42260987	42260987	+	Splice_Site	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:42260987G>A	ENST00000327628.5	+	15	2365	c.1963_splice	c.e15-1	p.A655_splice	TRAK1_ENST00000396175.1_Splice_Site_p.A597_splice|TRAK1_ENST00000487159.1_3'UTR	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	655					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CCAATTTAGCGCACCATCCTG	0.463000													54	95					0	0	1	0	0
FNIP1	96459	broad.mit.edu	37	5	131008450	131008450	+	Missense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:131008450C>G	ENST00000307968.7	-	13	1602	c.1603G>C	c.(1603-1605)Gtt>Ctt	p.V535L	FNIP1_ENST00000510461.1_Missense_Mutation_p.V563L|FNIP1_ENST00000307954.8_Missense_Mutation_p.V518L|FNIP1_ENST00000514667.1_Intron	NM_001008738.2	NP_001008738.2			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CCTGGCATAACGATGGCTTCA	0.363000													41	83					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92535005	92535005	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:92535005G>T	ENST00000298047.6	+	9	8843	c.8826G>T	c.(8824-8826)gtG>gtT	p.V2942V	FAT3_ENST00000409404.2_Silent_p.V2942V|FAT3_ENST00000525166.1_Silent_p.V2792V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2942	Cadherin 27.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CGGGCGAGGTGGTAGCCGTCC	0.512000										TCGA Ovarian(4;0.039)			25	80					8.24728e-16	1.27572e-15	1	1	0
POTEA	340441	broad.mit.edu	37	8	43171096	43171096	+	RNA	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr8:43171096C>A	ENST00000522175.2	+	0	831							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGAAAATAGTCAGCATGAGGC	0.318000													35	47					6.05902e-23	1.04924e-22	1	1	0
ACO2	50	broad.mit.edu	37	22	41921283	41921283	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr22:41921283C>A	ENST00000396512.3	+	14	1784	c.1767C>A	c.(1765-1767)cgC>cgA	p.R589R	ACO2_ENST00000216254.4_Silent_p.R564R			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	564					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CCAGCCAGCGCCTGCAGCTCC	0.632000													28	53					1.16021e-09	1.5426e-09	1	1	0
SIGLEC15	284266	broad.mit.edu	37	18	43418873	43418873	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr18:43418873G>T	ENST00000389474.3	+	4	904	c.687G>T	c.(685-687)ctG>ctT	p.L229L	SIGLEC15_ENST00000602118.2_3'UTR|SIGLEC15_ENST00000546268.1_Silent_p.L75L|SIGLEC15_ENST00000587418.1_5'UTR	NM_213602.2	NP_998767.1	Q6ZMC9	SIG15_HUMAN	sialic acid binding Ig-like lectin 15	229	Ig-like C2-type.					integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						TGCCCGCACTGACCCATGACG	0.721000													7	13					3.09899e-07	3.78055e-07	1	1	0
EYA1	2138	broad.mit.edu	37	8	72111644	72111644	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr8:72111644G>T	ENST00000340726.3	-	18	2349	c.1710C>A	c.(1708-1710)ccC>ccA	p.P570P	EYA1_ENST00000388741.2_Silent_p.P536P|EYA1_ENST00000388742.4_Silent_p.P570P|EYA1_ENST00000419131.1_Silent_p.P535P|EYA1_ENST00000388740.3_Silent_p.P537P|EYA1_ENST00000388743.2_Silent_p.P569P|RP11-326E22.1_ENST00000521685.1_RNA|EYA1_ENST00000303824.7_Silent_p.P564P	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	570					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TCCTCCAGAAGGGCATCGCGT	0.597000													13	22					1.5842e-08	2.01574e-08	1	1	0
RASGEF1A	221002	broad.mit.edu	37	10	43693527	43693527	+	Missense_Mutation	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr10:43693527G>C	ENST00000395809.1	-	10	3655	c.1149C>G	c.(1147-1149)aaC>aaG	p.N383K	RASGEF1A_ENST00000395810.1_Missense_Mutation_p.N383K|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.N391K			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	383	Ras-GEF.				cell migration|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						TAACGAAGAGGTTGAACACAG	0.542000											OREG0020135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	23	122					0	0	1	0	0
TRIM51	84767	broad.mit.edu	37	11	55653245	55653245	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:55653245C>A	ENST00000449290.2	+	2	433	c.341C>A	c.(340-342)cCg>cAg	p.P114Q		NM_032681.3	NP_116070.2	Q9BSJ1	SPRY5_HUMAN	tripartite motif-containing 51	114						intracellular	zinc ion binding										CTCTGTTTGCCGTGCTCCAAC	0.507000													17	30					9.16793e-09	1.17283e-08	1	1	0
DSCAM	1826	broad.mit.edu	37	21	41725582	41725582	+	Silent	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr21:41725582C>G	ENST00000400454.1	-	5	1221	c.744G>C	c.(742-744)gcG>gcC	p.A248A		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	248	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGTGCCCGAGCGCTTTGCAAG	0.577000													10	44					0	0	1	0	0
SNTG2	54221	broad.mit.edu	37	2	1251146	1251146	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:1251146C>A	ENST00000308624.5	+	12	1065	c.936C>A	c.(934-936)tcC>tcA	p.S312S	SNTG2_ENST00000407292.1_Silent_p.S185S	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	312	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GAGCTGACTCCTCTCAAACCT	0.502000													17	43					8.34094e-07	9.98662e-07	1	1	0
MSLNL	401827	broad.mit.edu	37	16	824874	824874	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr16:824874G>T	ENST00000293892.3	-	7	1697	c.1698C>A	c.(1696-1698)gcC>gcA	p.A566A	MSLNL_ENST00000442466.1_Silent_p.A215A			Q96KJ4	MSLNL_HUMAN	mesothelin-like	215					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GTGAGTTAAGGGCAATGCGCT	0.701000													5	22					0.000602214	0.000650795	1	1	0
RIMS2	9699	broad.mit.edu	37	8	105261040	105261040	+	Splice_Site	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr8:105261040G>A	ENST00000507740.1	+	19	3266	c.3031_splice	c.e19+1	p.M1010_splice	RIMS2_ENST00000436393.2_Splice_Site_p.M1214_splice|RIMS2_ENST00000406091.3_Splice_Site_p.M1196_splice|RIMS2_ENST00000339750.2_Splice_Site_p.M132_splice|RIMS2_ENST00000262231.10_Splice_Site_p.M1035_splice	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1258					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CACCTGCAATGGGTAAGAATT	0.443000										HNSCC(12;0.0054)			16	48					0	0	1	0	0
OPA1	4976	broad.mit.edu	37	3	193361891	193361891	+	Missense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:193361891C>G	ENST00000361510.2	+	16	1839	c.1605C>G	c.(1603-1605)agC>agG	p.S535R	OPA1_ENST00000392438.3_Missense_Mutation_p.S480R|OPA1_ENST00000361908.3_Missense_Mutation_p.S517R|OPA1_ENST00000361150.2_Missense_Mutation_p.S481R|OPA1_ENST00000361828.2_Missense_Mutation_p.S498R|OPA1_ENST00000361715.2_Missense_Mutation_p.S499R	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	480					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		CCAGTCCAAGCAGGGTGAGGT	0.388000													22	68					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1584724	1584724	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr20:1584724G>T	ENST00000279477.7	-	4	880	c.816C>A	c.(814-816)tgC>tgA	p.C272*	SIRPB1_ENST00000381605.4_Intron|SIRPB1_ENST00000568365.1_Nonsense_Mutation_p.C272*|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	272	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TCCTCACCTGGCAGGTGACAT	0.542000													29	42					4.02929e-09	5.27822e-09	1	1	0
ZNF804A	91752	broad.mit.edu	37	2	185802877	185802877	+	Silent	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:185802877C>T	ENST00000302277.6	+	4	3348	c.2754C>T	c.(2752-2754)gtC>gtT	p.V918V		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	918						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCACATCTGTCTGTGTAGCTA	0.388000													17	102					0	0	1	0	0
MICAL3	57553	broad.mit.edu	37	22	18368736	18368736	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr22:18368736C>A	ENST00000441493.2	-	16	2501	c.2149G>T	c.(2149-2151)Ggg>Tgg	p.G717W	MICAL3_ENST00000383094.3_Missense_Mutation_p.G717W|MICAL3_ENST00000400561.2_Missense_Mutation_p.G717W|MICAL3_ENST00000207726.7_Missense_Mutation_p.G717W|MICAL3_ENST00000444520.1_Missense_Mutation_p.G717W|MICAL3_ENST00000429452.1_Missense_Mutation_p.G717W|MICAL3_ENST00000585038.1_Missense_Mutation_p.G717W|MICAL3_ENST00000414725.2_Missense_Mutation_p.G717W	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	717						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TTCTGGTTCCCAACGGCAACG	0.572000													39	92					2.40579e-17	3.83845e-17	1	1	0
ATP2C1	27032	broad.mit.edu	37	3	130698184	130698184	+	Missense_Mutation	SNP	A	A	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:130698184A>C	ENST00000510168.1	+	19	2212	c.1662A>C	c.(1660-1662)gaA>gaC	p.E554D	ATP2C1_ENST00000428331.2_Missense_Mutation_p.E554D|ATP2C1_ENST00000533801.2_Missense_Mutation_p.E549D|ATP2C1_ENST00000513801.1_Missense_Mutation_p.E538D|ATP2C1_ENST00000359644.3_Missense_Mutation_p.E554D|ATP2C1_ENST00000393221.4_Missense_Mutation_p.E588D|ATP2C1_ENST00000422190.2_Missense_Mutation_p.E554D|ATP2C1_ENST00000507488.2_Missense_Mutation_p.E538D|ATP2C1_ENST00000505330.1_Missense_Mutation_p.E538D|ATP2C1_ENST00000504381.1_Missense_Mutation_p.E499D|ATP2C1_ENST00000508532.1_Missense_Mutation_p.E554D|ATP2C1_ENST00000328560.8_Missense_Mutation_p.E554D|ATP2C1_ENST00000504948.1_Missense_Mutation_p.E538D			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	554					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GTGTGAAAGAAGCTGTTACAA	0.428000									Hailey-Hailey disease				38	87					0	0	1	0	0
PDCD1LG2	80380	broad.mit.edu	37	9	5557753	5557753	+	Splice_Site	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr9:5557753G>A	ENST00000397747.3	+	5	1014		c.e5+1		PDCD1LG2_ENST00000397745.2_Splice_Site	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2						immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		TCTTCAAAAGGTAAGTGAGTT	0.433000													30	63					0	0	1	0	0
ASXL3	80816	broad.mit.edu	37	18	31324479	31324479	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr18:31324479G>T	ENST00000269197.5	+	12	4667	c.4667G>T	c.(4666-4668)tGc>tTc	p.C1556F		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1556					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCGGCCACCTGCACAAGTCTC	0.502000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	25					0.004672	0.00493619	1	1	0
CD86	942	broad.mit.edu	37	3	121822559	121822559	+	Missense_Mutation	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:121822559G>C	ENST00000330540.2	+	3	381	c.265G>C	c.(265-267)Gat>Cat	p.D89H	CD86_ENST00000264468.5_Intron|CD86_ENST00000469710.1_Missense_Mutation_p.D7H|CD86_ENST00000493101.1_Intron|CD86_ENST00000393627.2_Missense_Mutation_p.D83H	NM_175862.4	NP_787058.4	P42081	CD86_HUMAN	CD86 molecule	89	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	CACAAGTTTTGATTCGGACAG	0.423000													55	142					0	0	1	0	0
RING1	6015	broad.mit.edu	37	6	33179586	33179586	+	Missense_Mutation	SNP	A	A	G	rs113695132		TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr6:33179586A>G	ENST00000374656.4	+	6	1134	c.926A>G	c.(925-927)cAa>cGa	p.Q309R	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	309	Necessary for interaction with CBX2 (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GAGCGGAGGCAACAGCAGGAA	0.652000													45	112					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40419693	40419693	+	Nonsense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:40419693G>A	ENST00000221347.6	-	6	3308	c.3301C>T	c.(3301-3303)Cag>Tag	p.Q1101*		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1101						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGCCCAGACTGGCCTGGCAGC	0.652000													36	107					0	0	1	0	0
NOX5	79400	broad.mit.edu	37	15	69328256	69328256	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:69328256C>A	ENST00000260364.5	+	8	1415	c.1114C>A	c.(1114-1116)Cgc>Agc	p.R372S	NOX5_ENST00000448182.3_Missense_Mutation_p.R344S|NOX5_ENST00000388866.3_Missense_Mutation_p.R390S|NOX5_ENST00000530406.2_Missense_Mutation_p.R362S|NOX5_ENST00000455873.3_Missense_Mutation_p.R355S			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	390	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						TTCCTGCATCCGCAGGAGTGG	0.582000													17	88					4.14922e-12	5.9394e-12	1	1	0
SUCLG1	8802	broad.mit.edu	37	2	84660552	84660552	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:84660552C>A	ENST00000393868.2	-	6	807	c.597G>T	c.(595-597)gtG>gtT	p.V199V		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	199					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	CAGATCTGGACACAATGCCTT	0.388000													10	46					4.68919e-08	5.89261e-08	1	1	0
PEX13	5194	broad.mit.edu	37	2	61272966	61272966	+	Missense_Mutation	SNP	T	T	C	rs138545154		TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:61272966T>C	ENST00000295030.4	+	3	931	c.893T>C	c.(892-894)aTg>aCg	p.M298T		NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	298	SH3.				cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			GCTGGTGATATGCTGAACTTA	0.353000													34	77					0	0	1	0	0
ZNF773	374928	broad.mit.edu	37	19	58018657	58018657	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:58018657G>T	ENST00000282292.4	+	4	1334	c.1194G>T	c.(1192-1194)gaG>gaT	p.E398D	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.E397D	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		TCTTTAGTGAGAATTCCAGCC	0.418000													49	136					2.24722e-20	3.80794e-20	1	1	0
EPHA5	2044	broad.mit.edu	37	4	66467428	66467428	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr4:66467428C>A	ENST00000273854.3	-	3	1441	c.841G>T	c.(841-843)Gag>Tag	p.E281*	EPHA5_ENST00000354839.4_Nonsense_Mutation_p.E281*|EPHA5_ENST00000511294.1_Nonsense_Mutation_p.E281*|EPHA5_ENST00000432638.2_Nonsense_Mutation_p.E281*	NM_004439.5	NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	281	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ACCAGCCACTCCCCTTCGGCG	0.532000										TSP Lung(17;0.13)			33	46					1.36615e-20	2.33164e-20	1	1	0
ZNF254	9534	broad.mit.edu	37	19	24309421	24309421	+	Nonsense_Mutation	SNP	G	G	T	rs143798965		TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:24309421G>T	ENST00000357002.4	+	4	734	c.619G>T	c.(619-621)Gag>Tag	p.E207*	ZNF254_ENST00000342944.6_Nonsense_Mutation_p.E122*	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	207					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TTATCATAGAGAGAAGTCCTA	0.303000													38	87					1.04594e-18	1.7111e-18	1	1	0
ANGPT4	51378	broad.mit.edu	37	20	870961	870961	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr20:870961C>A	ENST00000381922.3	-	2	462	c.360G>T	c.(358-360)caG>caT	p.Q120H	ANGPT4_ENST00000546022.1_Missense_Mutation_p.Q120H	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	120					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CCATTTGCTGCTGGACCTGCT	0.642000													10	61					0.000442599	0.000482712	1	1	0
CCL28	56477	broad.mit.edu	37	5	43381978	43381978	+	Missense_Mutation	SNP	T	T	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:43381978T>A	ENST00000361115.4	-	3	442	c.368A>T	c.(367-369)cAt>cTt	p.H123L	CCL28_ENST00000513525.1_Missense_Mutation_p.H76L	NM_148672.2	NP_683513.1	Q9NRJ3	CCL28_HUMAN	chemokine (C-C motif) ligand 28	123					chemotaxis|immune response	extracellular space	chemokine activity			kidney(3)|lung(3)|ovary(1)	7						AGGAGTTTTATGGCCGTATGT	0.413000													53	144					0	0	1	0	0
FBXO30	84085	broad.mit.edu	37	6	146127505	146127505	+	Missense_Mutation	SNP	A	A	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr6:146127505A>G	ENST00000237281.4	-	2	203	c.37T>C	c.(37-39)Tgt>Cgt	p.C13R		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	13							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CTACTGACACAATTCACACAA	0.448000													42	44					0	0	1	0	0
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766		TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000330386.6_Silent_p.Q2644Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42 (By similarity).|Poly-Gln.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562000													6	102					0	0	1	0	0
AKR1A1	10327	broad.mit.edu	37	1	46033703	46033703	+	Missense_Mutation	SNP	G	G	T	rs148607559	byFrequency	TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:46033703G>T	ENST00000372070.3	+	6	1153	c.406G>T	c.(406-408)Gac>Tac	p.D136Y	AKR1A1_ENST00000351829.4_Missense_Mutation_p.D136Y	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	136					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					TATATGCTACGACTCCACCCA	0.577000													19	39					5.35267e-07	6.48531e-07	1	1	0
YWHAE	7531	broad.mit.edu	37	17	1257637	1257637	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:1257637C>T	ENST00000264335.8	-	5	850	c.583G>A	c.(583-585)Gca>Aca	p.A195T	YWHAE_ENST00000571732.1_Missense_Mutation_p.A173T|YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Intron	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide	195					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	p.A195T(2)		kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		GCTGCTTTTGCCAACCTAAAG	0.348000			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome						7	34					0	0	1	0	0
LEPRE1	64175	broad.mit.edu	37	1	43212626	43212626	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:43212626C>A	ENST00000236040.4	-	14	2412	c.2372G>T	c.(2371-2373)gGg>gTg	p.G791V	LEPRE1_ENST00000296388.5_Intron|LEPRE1_ENST00000397054.3_Intron|LEPRE1_ENST00000462474.1_Intron	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	0					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCTTAATGGCCCCAGGCTCAT	0.572000													17	60					7.05477e-17	1.11556e-16	1	1	0
SPATA31D5P	347127	broad.mit.edu	37	9	84533311	84533311	+	RNA	SNP	T	T	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr9:84533311T>C	ENST00000527857.1	+	0	3333					NR_026851.1																						TACAGCATCATAGACGAAGTC	0.488000													3	19					0	0	1	0	0
LGI4	163175	broad.mit.edu	37	19	35617782	35617782	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:35617782G>T	ENST00000392225.3	-	7	1287	c.768C>A	c.(766-768)cgC>cgA	p.R256R	LGI4_ENST00000310123.3_Silent_p.R256R|LGI4_ENST00000493050.1_5'UTR			Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	256						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CGGGCCGGAAGCGCTGCAGGC	0.682000													14	37					1.5842e-08	2.01574e-08	1	1	0
MSMB	4477	broad.mit.edu	37	10	51555832	51555832	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr10:51555832C>A	ENST00000358559.2	+	2	192	c.105C>A	c.(103-105)acC>acA	p.T35T	MSMB_ENST00000474170.1_3'UTR|MSMB_ENST00000298239.6_Silent_p.T35T	NM_002443.3	NP_002434.1	P08118	MSMB_HUMAN	microseminoprotein, beta-	35						extracellular space|nucleus				lung(4)|ovary(2)|prostate(1)	7						GAGATTCAACCAGGAGTAAGT	0.423000													15	29					0.00244969	0.00260762	1	1	0
MED13	9969	broad.mit.edu	37	17	60060353	60060353	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:60060353G>A	ENST00000397786.2	-	16	3087	c.3011C>T	c.(3010-3012)cCa>cTa	p.P1004L		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1004					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						AGGGGTGGATGGAGAAGGAAG	0.507000													19	34					0	0	1	0	0
MYPN	84665	broad.mit.edu	37	10	69881986	69881986	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr10:69881986C>A	ENST00000358913.5	+	2	1279	c.791C>A	c.(790-792)cCt>cAt	p.P264H	MYPN_ENST00000373675.3_Missense_Mutation_p.P264H|MYPN_ENST00000540630.1_Missense_Mutation_p.P264H|MYPN_ENST00000354393.2_Intron	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	264	Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TATGAAGAACCTCTGGGGCAA	0.542000													13	63					0.00136819	0.00147408	1	1	0
MPEG1	219972	broad.mit.edu	37	11	58979449	58979449	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:58979449G>T	ENST00000361050.3	-	1	975	c.890C>A	c.(889-891)aCc>aAc	p.T297N		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	297	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CAGGTGGTTGGTGATACCCTG	0.582000													13	20					0.0202918	0.0211249	1	1	0
FSD1	79187	broad.mit.edu	37	19	4307903	4307903	+	Missense_Mutation	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:4307903G>C	ENST00000221856.6	+	4	415	c.268G>C	c.(268-270)Gcc>Ccc	p.A90P	FSD1_ENST00000597590.1_Missense_Mutation_p.A90P	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	90					cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCACGCGGGCCCTGGAGAG	0.642000													8	9					0	0	1	0	0
NPAS2	4862	broad.mit.edu	37	2	101604651	101604651	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:101604651G>T	ENST00000335681.5	+	17	2025	c.1740G>T	c.(1738-1740)ggG>ggT	p.G580G	NPAS2_ENST00000542504.1_Silent_p.G645G	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	580					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCAGCTCGGGGCGGGCCCCC	0.597000													61	148					1.06179e-41	2.00497e-41	1	1	0
NID2	22795	broad.mit.edu	37	14	52505564	52505564	+	Missense_Mutation	SNP	T	T	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr14:52505564T>A	ENST00000216286.5	-	9	2157	c.2158A>T	c.(2158-2160)Acc>Tcc	p.T720S	NID2_ENST00000541773.1_Missense_Mutation_p.T667S	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	720	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TGCTGGGTGGTGGGGAAGGAC	0.527000													28	82					0	0	1	0	0
SRSF5	6430	broad.mit.edu	37	14	70237973	70237973	+	Missense_Mutation	SNP	G	G	T	rs141668513		TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr14:70237973G>T	ENST00000553521.1	+	9	2067	c.614G>T	c.(613-615)cGt>cTt	p.R205L	SRSF5_ENST00000557154.1_Missense_Mutation_p.R205L|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000553635.1_Missense_Mutation_p.R202L|SRSF5_ENST00000394366.2_Missense_Mutation_p.R205L			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	205	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding			large_intestine(1)|liver(1)	2						AGCCGATCCCGTTCCCGTAGT	0.527000													54	157					4.44712e-29	8.05474e-29	1	1	0
AGO2	27161	broad.mit.edu	37	8	141567330	141567330	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr8:141567330G>A	ENST00000220592.5	-	8	996	c.884C>T	c.(883-885)cCg>cTg	p.P295L	AGO2_ENST00000519980.1_Missense_Mutation_p.P295L	NM_012154.3	NP_036286.2			argonaute RISC catalytic component 2																		CTGCTGCAGCGGGAATCTGAG	0.592000													95	98					0	0	1	0	0
LSS	4047	broad.mit.edu	37	21	47632939	47632939	+	Splice_Site	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr21:47632939C>A	ENST00000397728.3	-	11	1215	c.1137_splice	c.e11+1	p.Q379_splice	LSS_ENST00000457828.2_Splice_Site_p.Q299_splice|LSS_ENST00000522411.1_Splice_Site_p.Q368_splice|LSS_ENST00000356396.4_Splice_Site_p.Q379_splice	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	379					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CAGCCCTTACCTGCATTTTCA	0.527000													4	32					0.150653	0.152588	1	1	0
GLI3	2737	broad.mit.edu	37	7	42004819	42004819	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:42004819G>T	ENST00000395925.3	-	15	3936	c.3852C>A	c.(3850-3852)acC>acA	p.T1284T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1284					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CTTGCATGGGGGTGCTCTTCA	0.622000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				25	51					3.83957e-06	4.46169e-06	1	1	0
DOCK2	1794	broad.mit.edu	37	5	169116310	169116310	+	Missense_Mutation	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:169116310G>C	ENST00000256935.8	+	9	896	c.816G>C	c.(814-816)atG>atC	p.M272I		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	272					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATTGAGATGCTCAACAATC	0.542000													16	33					0	0	1	0	0
KRT84	3890	broad.mit.edu	37	12	52778863	52778863	+	Silent	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:52778863G>A	ENST00000257951.3	-	1	573	c.507C>T	c.(505-507)atC>atT	p.I169I	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	169	Coil 1A.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGAGGGTCTTGATTTGCTCCT	0.483000													65	243					0	0	1	0	0
BZRAP1	9256	broad.mit.edu	37	17	56404127	56404127	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:56404127C>T	ENST00000355701.3	-	2	1228	c.358G>A	c.(358-360)Gac>Aac	p.D120N	BZRAP1_ENST00000343736.4_Missense_Mutation_p.D120N|BZRAP1_ENST00000268893.6_Missense_Mutation_p.D120N|BZRAP1-AS1_ENST00000579527.1_RNA	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	120						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGGGCCTGTCCCCAAAGCTC	0.602000													14	59					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31596795	31596795	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:31596795C>A	ENST00000379416.3	-	16	1678	c.1630G>T	c.(1630-1632)Gcc>Tcc	p.A544S		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	544					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GTTGCACTGGCGAAAGTGGGG	0.468000													7	44					2.0095e-06	2.36216e-06	1	1	0
LRRTM4	80059	broad.mit.edu	37	2	77745812	77745812	+	Missense_Mutation	SNP	T	T	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:77745812T>A	ENST00000409088.3	-	3	1597	c.1183A>T	c.(1183-1185)Acc>Tcc	p.T395S	LRRTM4_ENST00000409282.1_Missense_Mutation_p.T396S|LRRTM4_ENST00000409884.1_Missense_Mutation_p.T395S|LRRTM4_ENST00000409911.1_Missense_Mutation_p.T396S|LRRTM4_ENST00000409093.1_Missense_Mutation_p.T395S	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	395						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GTGGATTGGGTGACGTCAGGT	0.488000													16	66					0	0	1	0	0
MRPS9	64965	broad.mit.edu	37	2	105713767	105713767	+	Missense_Mutation	SNP	G	G	A	rs150040776	by1000genomes	TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:105713767G>A	ENST00000258455.3	+	10	1194	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	AC104655.2_ENST00000449177.1_RNA|AC104655.2_ENST00000432211.1_RNA	NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	362					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GGACGAGGTCGAGTGGATGAG	0.557000													15	48					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39798540	39798540	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:39798540G>T	ENST00000564288.1	+	37	7057	c.6280G>T	c.(6280-6282)Gct>Tct	p.A2094S	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000289893.4_Missense_Mutation_p.A534S|MACF1_ENST00000567887.1_Missense_Mutation_p.A2131S|MACF1_ENST00000372915.3_Missense_Mutation_p.A2099S|MACF1_ENST00000317713.7_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2099					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAACATTGATGCTTTGAAGGT	0.383000													21	39					1.10923e-09	1.47759e-09	1	1	0
ZSWIM2	151112	broad.mit.edu	37	2	187709478	187709478	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:187709478C>A	ENST00000295131.2	-	3	288	c.249G>T	c.(247-249)ttG>ttT	p.L83F		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	83					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATTTTTTCAACAAGACCCTAA	0.249000													21	62					4.22769e-11	5.8741e-11	1	1	0
GPC2	221914	broad.mit.edu	37	7	99771559	99771559	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:99771559C>T	ENST00000292377.2	-	5	958	c.791G>A	c.(790-792)cGg>cAg	p.R264Q	GPC2_ENST00000471050.1_5'UTR	NM_152742.1	NP_689955.1	Q8N158	GPC2_HUMAN	glypican 2	264						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	p.R264Q(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGGACCCCCCGGCACAGGGG	0.642000													130	196					0	0	1	0	0
CRADD	8738	broad.mit.edu	37	12	94243996	94243996	+	Silent	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:94243996G>C	ENST00000542893.2	+	3	867	c.549G>C	c.(547-549)ggG>ggC	p.G183G	CRADD_ENST00000548483.1_Intron|CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000332896.3_Silent_p.G183G			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	183	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						TGCACAACGGGCTGCGGGCTG	0.652000													49	53					0	0	1	0	0
SIX2	10736	broad.mit.edu	37	2	45233558	45233558	+	Silent	SNP	T	T	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:45233558T>C	ENST00000303077.6	-	2	946	c.627A>G	c.(625-627)ttA>ttG	p.L209L		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	209						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CCGAGCTGCCTAACACCGACT	0.632000													60	121					0	0	1	0	0
CLEC18B	497190	broad.mit.edu	37	16	74446939	74446939	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr16:74446939G>T	ENST00000339953.5	-	5	793	c.672C>A	c.(670-672)ctC>ctA	p.L224L		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	224						extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACTCACCACAGAGCCCCCCTG	0.612000													19	89					1.42536e-11	2.01594e-11	1	1	0
GGTLC1	92086	broad.mit.edu	37	20	23967075	23967075	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr20:23967075G>T	ENST00000335694.4	-	2	378	c.174C>A	c.(172-174)ctC>ctA	p.L58L	GGTLC1_ENST00000278765.4_Silent_p.L58L|GGTLC1_ENST00000286890.4_Silent_p.L58L	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	58							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GCCCCTACTAGAGGTTGATGG	0.627000													11	45					1.58986e-06	1.87821e-06	1	1	0
FAT4	79633	broad.mit.edu	37	4	126370038	126370038	+	Missense_Mutation	SNP	A	A	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr4:126370038A>G	ENST00000394329.3	+	9	7880	c.7867A>G	c.(7867-7869)Att>Gtt	p.I2623V	FAT4_ENST00000335110.5_Missense_Mutation_p.I921V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2623	Cadherin 25.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						gcaggtgtctattagtcaacc	0.408000													16	31					0	0	1	0	0
GLIS1	148979	broad.mit.edu	37	1	53975606	53975606	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:53975606C>T	ENST00000312233.2	-	8	2019	c.1453G>A	c.(1453-1455)Ggc>Agc	p.G485S		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	485	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						AAGGGCTGGCCCCCCGGAGAA	0.697000													3	12					0	0	1	0	0
FAM84A	151354	broad.mit.edu	37	2	14774113	14774113	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:14774113C>A	ENST00000295092.2	+	2	298	c.10C>A	c.(10-12)Caa>Aaa	p.Q4K	FAM84A_ENST00000331243.4_Missense_Mutation_p.Q4K	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	4										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			GATGGGCAACCAACTGGACCG	0.632000													7	34					1.12685e-05	1.30092e-05	1	1	0
HS3ST5	222537	broad.mit.edu	37	6	114378575	114378575	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr6:114378575C>A	ENST00000312719.5	-	5	2075	c.887G>T	c.(886-888)cGg>cTg	p.R296L	RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.R296L|RP3-399L15.3_ENST00000519270.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	296					heparan sulfate proteoglycan biosynthetic process, enzymatic modification|negative regulation of coagulation|protein sulfation|regulation of virion penetration into host cell	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity|protein binding			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		AATATTAAACCGCAAGCAGTA	0.438000													24	40					2.89027e-11	4.03161e-11	1	1	0
MYH8	4626	broad.mit.edu	37	17	10304609	10304609	+	Missense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:10304609C>G	ENST00000403437.2	-	24	3185	c.3091G>C	c.(3091-3093)Gaa>Caa	p.E1031Q	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1031					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ACTTGCTGTTCTAGCTTGGTT	0.383000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				43	177					0	0	1	0	0
SSH1	54434	broad.mit.edu	37	12	109210909	109210909	+	Silent	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:109210909C>T	ENST00000326495.5	-	5	399	c.306G>A	c.(304-306)gcG>gcA	p.A102A	SSH1_ENST00000360239.3_5'UTR|SSH1_ENST00000551165.1_Silent_p.A102A|SSH1_ENST00000546812.1_5'UTR|SSH1_ENST00000326470.5_Silent_p.A113A	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	102					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGACCCGGTCCGCCCAGGCGC	0.597000													12	135					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158614141	158614141	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:158614141G>T	ENST00000368148.3	-	30	4420	c.4240C>A	c.(4240-4242)Cgt>Agt	p.R1414S	SPTA1_ENST00000368147.3_Missense_Mutation_p.R1414S	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1414					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAATTCTCACGTGCCACCATC	0.473000													24	62					5.35356e-11	7.39499e-11	1	1	0
LGR5	8549	broad.mit.edu	37	12	71974079	71974079	+	Silent	SNP	T	T	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:71974079T>A	ENST00000266674.5	+	16	1739	c.1428T>A	c.(1426-1428)gcT>gcA	p.A476A	LGR5_ENST00000536515.1_Silent_p.A404A|LGR5_ENST00000540815.2_Silent_p.A452A			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	476						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGCCTTATGCTTACCAGTGCT	0.348000													31	166					0	0	1	0	0
RPIA	22934	broad.mit.edu	37	2	88991265	88991265	+	Missense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:88991265C>G	ENST00000283646.4	+	1	104	c.49C>G	c.(49-51)Ccg>Gcg	p.P17A		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	17					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18		Acute lymphoblastic leukemia(2;0.000456)|all_hematologic(2;0.00287)				GGTCTTggccccgctgcccgg	0.781000													4	22					0	0	1	0	0
SETBP1	26040	broad.mit.edu	37	18	42532496	42532496	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr18:42532496G>T	ENST00000282030.5	+	4	3487	c.3191G>T	c.(3190-3192)gGt>gTt	p.G1064V		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1064						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ATGAACCTTGGTTATTACGGT	0.488000									Schinzel-Giedion syndrome				21	43					2.4624e-09	3.23161e-09	1	1	0
TEX15	56154	broad.mit.edu	37	8	30706483	30706483	+	Missense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr8:30706483C>G	ENST00000256246.2	-	1	125	c.51G>C	c.(49-51)tgG>tgC	p.W17C	TEX15_ENST00000523186.1_5'UTR	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	17										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TAAGACTTGTCCAATTTAACA	0.363000													44	48					0	0	1	0	0
NBN	4683	broad.mit.edu	37	8	90965538	90965538	+	Silent	SNP	T	T	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr8:90965538T>A	ENST00000265433.3	-	11	1933	c.1779A>T	c.(1777-1779)ccA>ccT	p.P593P	NBN_ENST00000409330.1_Silent_p.P511P	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	593					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TATCCATCCTTGGCCTTTTTC	0.333000								Homologous recombination					134	133					0	0	1	0	0
SPAG7	9552	broad.mit.edu	37	17	4863164	4863164	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:4863164C>A	ENST00000573366.1	-	6	1170	c.312G>T	c.(310-312)gtG>gtT	p.V104V	SPAG7_ENST00000575142.1_Silent_p.V144V|SPAG7_ENST00000206020.3_Silent_p.V155V			O75391	SPAG7_HUMAN	sperm associated antigen 7	155	R3H.					nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						GGCTCACCACCACAGGCCCCT	0.637000													21	81					1.9806e-07	2.44136e-07	1	1	0
NOS1	4842	broad.mit.edu	37	12	117725973	117725973	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:117725973G>T	ENST00000317775.6	-	5	1718	c.1033C>A	c.(1033-1035)Cag>Aag	p.Q345K	NOS1_ENST00000338101.4_Missense_Mutation_p.Q345K|NOS1_ENST00000344089.3_Silent_p.L363L	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	345					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CTTGCATGCTGAGAAGGATGC	0.463000													50	52					2.24722e-20	3.80794e-20	1	1	0
FPR1	2357	broad.mit.edu	37	19	52249798	52249798	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:52249798C>A	ENST00000595042.1	-	3	591	c.450G>T	c.(448-450)tgG>tgT	p.W150C	FPR1_ENST00000304748.4_Missense_Mutation_p.W150C	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	150					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GAGCCATCACCCAGGGCCCAA	0.552000													36	88					4.3181e-19	7.11334e-19	1	1	0
SLC13A1	6561	broad.mit.edu	37	7	122774551	122774551	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:122774551C>A	ENST00000194130.2	-	8	884	c.845G>T	c.(844-846)gGa>gTa	p.G282V	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	282						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AAACCATGATCCAAAGTTGAG	0.448000													41	64					3.61848e-18	5.86325e-18	1	1	0
CACNA1F	778	broad.mit.edu	37	X	49072004	49072004	+	Splice_Site	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chrX:49072004C>A	ENST00000376265.2	-	28	3331		c.e28-1		CACNA1F_ENST00000376251.1_Splice_Site|CACNA1F_ENST00000323022.5_Splice_Site	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit						axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GTATAGCAGTCTGTGGGAGCC	0.542000													14	14					1.05317e-09	1.40555e-09	1	1	0
ALG1	56052	broad.mit.edu	37	16	5123157	5123157	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr16:5123157G>T	ENST00000262374.5	+	3	321	c.290G>T	c.(289-291)gGg>gTg	p.G97V	ALG1_ENST00000588623.1_5'UTR|ALG1_ENST00000544428.1_5'UTR	NM_019109.4	NP_061982.3	Q9BT22	ALG1_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase	97					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				CTTGCAGTTGGGCCCCGAGTT	0.522000													20	31					1.15919e-05	1.33391e-05	1	1	0
SCN4A	6329	broad.mit.edu	37	17	62021206	62021206	+	Missense_Mutation	SNP	C	C	T	rs80338792		TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:62021206C>T	ENST00000435607.1	-	22	3993	c.3917G>A	c.(3916-3918)gGg>gAg	p.G1306E	SCN4A_ENST00000578147.1_Splice_Site_p.R1306_splice	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1306			G -> A (in PMC).|G -> E (in MYOSCN4A and PMC; severe).|G -> V (in MYOSCN4A and PMC).		muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GTCTTTCCCCCCTAAGTATAG	0.542000													7	17					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149521586	149521586	+	RNA	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:149521586G>T	ENST00000378016.2	+	0	13665							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGAGCACTGGCTCCGAGACC	0.697000													19	36					1.15919e-05	1.33391e-05	1	1	0
ATG2A	23130	broad.mit.edu	37	11	64662453	64662453	+	Nonsense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:64662453G>A	ENST00000421419.2	-	41	5929	c.5815C>T	c.(5815-5817)Caa>Taa	p.Q1939*	ATG2A_ENST00000377264.3_Nonsense_Mutation_p.Q1937*			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1937							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GCTCAGTCTTGGGCACTGTCC	0.716000													17	99					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578461	7578461	+	Missense_Mutation	SNP	C	C	A	rs121912654		TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:7578461C>A	ENST00000420246.2	-	5	601	c.469G>T	c.(469-471)Gtc>Ttc	p.V157F	TP53_ENST00000455263.2_Missense_Mutation_p.V157F|TP53_ENST00000445888.2_Missense_Mutation_p.V157F|TP53_ENST00000413465.2_Missense_Mutation_p.V157F|TP53_ENST00000359597.4_Missense_Mutation_p.V157F|TP53_ENST00000269305.4_Missense_Mutation_p.V157F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(161)|p.V157I(10)|p.0?(8)|p.V157L(6)|p.V64F(6)|p.V25F(6)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157fs*24(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*23(1)|p.V157fs*21(1)|p.V157fs*25(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)		ATGGCGCGGACGCGGGTGCCG	0.617000		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)			39	35					4.14481e-20	6.97349e-20	1	1	0
SPATA31D3	389762	broad.mit.edu	37	9	84562508	84562508	+	RNA	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr9:84562508C>A	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							CCCCAAAAAACCATCTCTTGC	0.478000													9	27					7.03913e-09	9.08687e-09	1	1	0
RAD51AP2	729475	broad.mit.edu	37	2	17698014	17698014	+	Missense_Mutation	SNP	T	T	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:17698014T>A	ENST00000399080.2	-	1	1692	c.1669A>T	c.(1669-1671)Aca>Tca	p.T557S		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	557										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTTATATTTGTATTCATGTTT	0.239000													16	18					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102266253	102266253	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr6:102266253G>T	ENST00000369138.1	+	9	1702	c.1212G>T	c.(1210-1212)acG>acT	p.T404T	GRIK2_ENST00000369137.3_Silent_p.T404T|GRIK2_ENST00000421544.1_Silent_p.T404T|GRIK2_ENST00000318991.6_Silent_p.T404T|GRIK2_ENST00000413795.1_Silent_p.T404T|GRIK2_ENST00000369134.4_Silent_p.T355T	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	404					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AGATTGGAACGTGGGATCCAG	0.393000													17	24					3.52763e-06	4.10593e-06	1	1	0
CNKSR1	10256	broad.mit.edu	37	1	26515264	26515264	+	Splice_Site	SNP	C	C	A	rs141991719	byFrequency	TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:26515264C>A	ENST00000531191.1	+	19	1925	c.916_splice	c.e19-1	p.D306_splice	CNKSR1_ENST00000374253.5_Splice_Site_p.D571_splice|CNKSR1_ENST00000361530.6_Splice_Site_p.D564_splice			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	571	Pro-rich.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCCACAGACAGCAGTGAAG	0.652000													18	74					0.00741294	0.00780888	1	1	0
FGF23	8074	broad.mit.edu	37	12	4481827	4481827	+	Missense_Mutation	SNP	A	A	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:4481827A>T	ENST00000237837.1	-	2	393	c.248T>A	c.(247-249)gTg>gAg	p.V83E		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	83					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TGTAATCACCACAAAGCCAGC	0.463000													17	84					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78574746	78574746	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:78574746C>A	ENST00000397909.2	+	30	5786	c.5613C>A	c.(5611-5613)agC>agA	p.S1871R	NAV3_ENST00000536525.2_Missense_Mutation_p.S1849R|NAV3_ENST00000228327.6_Missense_Mutation_p.S1849R|NAV3_ENST00000552300.1_3'UTR|NAV3_ENST00000266692.7_Missense_Mutation_p.S1672R			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1871	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AATCCTCAAGCAGCACCTCCT	0.443000										HNSCC(70;0.22)			27	53					1.26454e-06	1.51149e-06	1	1	0
COL9A3	1299	broad.mit.edu	37	20	61453480	61453480	+	Silent	SNP	C	C	T	rs41306378		TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr20:61453480C>T	ENST00000343916.3	+	9	444	c.441C>T	c.(439-441)ccC>ccT	p.P147P		NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3	147	Triple-helical region 3 (COL3).				axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CTGGACTCCCCGGCCTCCCTG	0.647000													24	63					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34640603	34640603	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:34640603C>A	ENST00000537011.1	+	3	916	c.534C>A	c.(532-534)gtC>gtA	p.V178V	NUTM1_ENST00000438749.3_Silent_p.V168V|NUTM1_ENST00000333756.4_Silent_p.V150V					NUT midline carcinoma, family member 1																		CTGTTGGTGTCAGCCAGGAGG	0.602000													12	24					6.40141e-05	7.24881e-05	1	1	0
PALLD	23022	broad.mit.edu	37	4	169602532	169602532	+	Silent	SNP	A	A	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr4:169602532A>G	ENST00000261509.6	+	4	1348	c.1137A>G	c.(1135-1137)agA>agG	p.R379R	PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000505667.1_Silent_p.R379R|PALLD_ENST00000512127.1_5'UTR|PALLD_ENST00000333488.4_Silent_p.R256R	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	379					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TCAAATCAAGAGCTGGAGCTA	0.388000									Pancreatic Cancer, Familial Clustering of				29	33					0	0	1	0	0
C1orf27	54953	broad.mit.edu	37	1	186375299	186375299	+	Missense_Mutation	SNP	T	T	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:186375299T>C	ENST00000367470.3	+	11	1252	c.1016T>C	c.(1015-1017)tTt>tCt	p.F339S	C1orf27_ENST00000287859.6_Missense_Mutation_p.F362S|C1orf27_ENST00000419367.3_Missense_Mutation_p.F330S|C1orf27_ENST00000432021.3_Missense_Mutation_p.F339S	NM_001164245.1	NP_001157717.1	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	362						integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						GATTATAAATTTGACGATGAG	0.378000													32	90					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43838679	43838679	+	Missense_Mutation	SNP	C	C	A	rs141628178	byFrequency	TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr21:43838679C>A	ENST00000319294.6	+	7	1038	c.1007C>A	c.(1006-1008)aCg>aAg	p.T336K	UBASH3A_ENST00000398367.1_Missense_Mutation_p.T298K|UBASH3A_ENST00000291535.6_Missense_Mutation_p.T298K	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	336	SH3.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GAAAACTACACGGATCGAGCC	0.612000													9	43					0.00829132	0.00872124	1	1	0
NR3C1	2908	broad.mit.edu	37	5	142662288	142662288	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:142662288G>A	ENST00000343796.2	-	8	3019	c.2026C>T	c.(2026-2028)Cct>Tct	p.P676S	NR3C1_ENST00000231509.3_Missense_Mutation_p.P677S|NR3C1_ENST00000415690.2_Missense_Mutation_p.P676S|NR3C1_ENST00000504572.1_Missense_Mutation_p.P677S|NR3C1_ENST00000394466.2_Missense_Mutation_p.P677S|NR3C1_ENST00000394464.2_Missense_Mutation_p.P676S|NR3C1_ENST00000424646.2_Missense_Mutation_p.P650S|NR3C1_ENST00000503201.1_Missense_Mutation_p.P676S|NR3C1_ENST00000416954.2_Missense_Mutation_p.P279S	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	676	Steroid-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	CCGTCCTTAGGAACTAAAAGG	0.358000													8	57					0	0	1	0	0
KANK4	163782	broad.mit.edu	37	1	62713232	62713232	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:62713232G>T	ENST00000371153.4	-	9	3173	c.2795C>A	c.(2794-2796)gCc>gAc	p.A932D	KANK4_ENST00000371150.1_Missense_Mutation_p.A288D|KANK4_ENST00000354381.3_Missense_Mutation_p.A304D|KANK4_ENST00000317477.4_Missense_Mutation_p.A70D	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	932										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CACCATGAGGGCCGAGGATCC	0.612000													17	82					1.5739e-10	2.15727e-10	1	1	0
KIF19	124602	broad.mit.edu	37	17	72322508	72322508	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:72322508C>A	ENST00000389916.4	+	1	158	c.20C>A	c.(19-21)tCc>tAc	p.S7Y		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	7					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGCGGGGACTCCAAGGACCAG	0.672000													30	70					2.47316e-13	3.62798e-13	1	1	0
RIMS4	140730	broad.mit.edu	37	20	43385674	43385674	+	Silent	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr20:43385674G>A	ENST00000372851.3	-	5	522	c.456C>T	c.(454-456)gcC>gcT	p.A152A	RIMS4_ENST00000541604.2_Silent_p.A153A	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	152	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CCTTGATGTAGGCCGCTGGGG	0.572000													85	143					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63948096	63948096	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:63948096C>T	ENST00000443617.2	-	50	10016	c.9929G>A	c.(9928-9930)cGa>cAa	p.R3310Q		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3310					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TAGAAACTTTCGCTGAATTGA	0.413000													4	11					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11316162	11316162	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:11316162C>A	ENST00000361445.4	-	5	668	c.592G>T	c.(592-594)Gtg>Ttg	p.V198L		NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	198					cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GGGTCCCACACGGCCACAAAA	0.562000													17	27					9.16793e-09	1.17283e-08	1	1	0
DUSP27	92235	broad.mit.edu	37	1	167096672	167096672	+	Silent	SNP	C	C	A	rs145856876	by1000genomes	TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:167096672C>A	ENST00000361200.2	+	6	2470	c.2304C>A	c.(2302-2304)gtC>gtA	p.V768V	DUSP27_ENST00000443333.1_Silent_p.V768V|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.V768V			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	768					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						ATGACCAAGTCTCCATGCTTA	0.567000													64	32					3.8688e-20	6.52459e-20	1	1	0
VN1R4	317703	broad.mit.edu	37	19	53770625	53770625	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:53770625G>T	ENST00000311170.4	-	1	347	c.294C>A	c.(292-294)acC>acA	p.T98T		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	98					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		TCAAGAGGCAGGTGGTGCCAA	0.488000										HNSCC(26;0.072)			6	45					2.17888e-05	2.49517e-05	1	1	0
KCNMB2	10242	broad.mit.edu	37	3	178560587	178560587	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:178560587C>A	ENST00000432997.1	+	5	922	c.570C>A	c.(568-570)ctC>ctA	p.L190L	RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000358316.3_Silent_p.L190L|RP11-385J1.2_ENST00000437488.1_RNA|RP11-385J1.2_ENST00000451742.1_RNA|KCNMB2_ENST00000420517.2_Silent_p.L190L|KCNMB2_ENST00000452583.1_Silent_p.L190L	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	190					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			TAACAAAACTCTACAGTTCCA	0.458000													29	54					7.41945e-09	9.52588e-09	1	1	0
SLC5A12	159963	broad.mit.edu	37	11	26695049	26695049	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:26695049G>T	ENST00000396005.3	-	14	1916	c.1607C>A	c.(1606-1608)cCa>cAa	p.P536Q		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	536					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AATTAACAGTGGTTGAATATC	0.388000													18	104					6.94344e-10	9.30159e-10	1	1	0
TGFB3	7043	broad.mit.edu	37	14	76437955	76437955	+	Silent	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr14:76437955G>C	ENST00000238682.3	-	2	756	c.459C>G	c.(457-459)gtC>gtG	p.V153V	TGFB3_ENST00000556285.1_Silent_p.V153V	NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3	153					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		GCACCCGCAAGACCCGGAATT	0.522000													12	50					0	0	1	0	0
C1orf50	79078	broad.mit.edu	37	1	43240501	43240501	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:43240501G>A	ENST00000372525.5	+	4	419	c.376G>A	c.(376-378)Gag>Aag	p.E126K	C1orf50_ENST00000536543.1_5'UTR|C1orf50_ENST00000468913.2_3'UTR	NM_024097.3	NP_077002.2	Q9BV19	CA050_HUMAN	chromosome 1 open reading frame 50	126										large_intestine(2)|ovary(1)|pancreas(1)	4	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTATAAACGGGAGAGTGGTCA	0.393000													50	104					0	0	1	0	0
PARP15	165631	broad.mit.edu	37	3	122354802	122354802	+	Missense_Mutation	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:122354802G>C	ENST00000483793.1	+	9	1347	c.1307G>C	c.(1306-1308)gGa>gCa	p.G436A	PARP15_ENST00000310366.4_Missense_Mutation_p.G397A|PARP15_ENST00000493645.1_Missense_Mutation_p.G328A|PARP15_ENST00000464300.2_Missense_Mutation_p.G631A|PARP15_ENST00000465304.1_3'UTR			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	609	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		GGACGTGCAGGATTAGTCACC	0.463000													28	71					0	0	1	0	0
KIAA1024	23251	broad.mit.edu	37	15	79748848	79748848	+	Missense_Mutation	SNP	A	A	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:79748848A>T	ENST00000305428.3	+	2	434	c.359A>T	c.(358-360)gAa>gTa	p.E120V		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	120						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GCATCCTTTGAATCATGTAGG	0.552000													23	66					0	0	1	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98849908	98849908	+	RNA	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:98849908C>A	ENST00000554295.1	-	0	1015					NR_033801.1																						GGTAAAACAGCCACTAAATAT	0.473000													8	45					1.06961e-07	1.33233e-07	1	1	0
MBD5	55777	broad.mit.edu	37	2	149247113	149247113	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:149247113G>T	ENST00000407073.1	+	12	4210	c.3213G>T	c.(3211-3213)gtG>gtT	p.V1071V	MBD5_ENST00000404807.1_Silent_p.V1304V	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	1071						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		GTCAACAGGTGAAGGATGGCC	0.493000													30	88					1.68575e-08	2.1373e-08	1	1	0
TECRL	253017	broad.mit.edu	37	4	65188444	65188444	+	Missense_Mutation	SNP	T	T	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr4:65188444T>C	ENST00000381210.3	-	4	508	c.398A>G	c.(397-399)tAt>tGt	p.Y133C	TECRL_ENST00000507440.1_Missense_Mutation_p.Y133C	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	133					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						GTCTGTAGCATACAGTGTGAC	0.313000													24	39					0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122774575	122774575	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:122774575G>T	ENST00000194130.2	-	8	860	c.821C>A	c.(820-822)cCt>cAt	p.P274H	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	274						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ACGACAGTCAGGATAGCGTCT	0.483000													39	53					9.8876e-21	1.69161e-20	1	1	0
BAI1	575	broad.mit.edu	37	8	143545834	143545834	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr8:143545834C>A	ENST00000517894.1	+	2	1169	c.275C>A	c.(274-276)cCc>cAc	p.P92H	BAI1_ENST00000323289.5_Missense_Mutation_p.P92H			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	92					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCGCCCGTGCCCTGCAGCGGC	0.701000													6	9					0.217242	0.218783	1	1	0
ANKS1B	56899	broad.mit.edu	37	12	100200347	100200347	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:100200347C>A	ENST00000547776.2	-	4	503	c.504G>T	c.(502-504)gcG>gcT	p.A168A	ANKS1B_ENST00000547010.1_Intron|ANKS1B_ENST00000329257.7_Silent_p.A168A	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	168						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CGTAGAGTGCCGCCAAGTCCA	0.478000													13	64					0.00010058	0.000112637	1	1	0
PCDHA2	56146	broad.mit.edu	37	5	140176162	140176162	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:140176162G>T	ENST00000526136.1	+	1	1613	c.1613G>T	c.(1612-1614)cGg>cTg	p.R538L	PCDHA2_ENST00000520672.2_Missense_Mutation_p.R538L|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R538L|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCGCGCGGGATGCGGGC	0.677000													54	82					1.27862e-28	2.30997e-28	1	1	0
LPPR4	9890	broad.mit.edu	37	1	99753596	99753596	+	Nonsense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:99753596G>T	ENST00000370185.3	+	2	795	c.298G>T	c.(298-300)Gga>Tga	p.G100*	LPPR4_ENST00000457765.1_Nonsense_Mutation_p.G100*	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		100							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TGTGCACTCTGGATTTAGCTG	0.463000													25	86					4.4004e-07	5.3498e-07	1	1	0
HTR3D	200909	broad.mit.edu	37	3	183756296	183756296	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:183756296C>A	ENST00000382489.3	+	7	1019	c.1019C>A	c.(1018-1020)cCt>cAt	p.P340H	HTR3D_ENST00000453435.1_Missense_Mutation_p.P119H|HTR3D_ENST00000428798.2_Missense_Mutation_p.P290H|HTR3D_ENST00000334128.2_Missense_Mutation_p.P165H	NM_001163646.1	NP_001157118.1	Q70Z44	5HT3D_HUMAN	5-hydroxytryptamine (serotonin) receptor 3D, ionotropic	340						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CAGCCCCTACCTCTGCCTCGG	0.652000													29	78					1.75199e-13	2.58072e-13	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113871483	113871483	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr8:113871483C>A	ENST00000297405.5	-	11	1890	c.1646G>T	c.(1645-1647)gGc>gTc	p.G549V	CSMD3_ENST00000352409.3_Missense_Mutation_p.G549V|CSMD3_ENST00000455883.2_Missense_Mutation_p.G445V|CSMD3_ENST00000343508.3_Missense_Mutation_p.G509V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	549	CUB 3.					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						AAGATTAGAGCCACACGTTTT	0.358000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			29	48					2.12542e-12	3.05475e-12	1	1	0
SUV420H2	84787	broad.mit.edu	37	19	55858682	55858682	+	Silent	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:55858682C>T	ENST00000255613.3	+	9	1502	c.1254C>T	c.(1252-1254)gcC>gcT	p.A418A		NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)	418	Required for heterochromatin localization (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CTACCCCAGCCCCTGCTGGGA	0.711000													6	4					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182396457	182396457	+	Missense_Mutation	SNP	C	C	T	rs56194996		TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:182396457C>T	ENST00000397033.2	+	25	3168	c.2738C>T	c.(2737-2739)gCc>gTc	p.A913V		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	913					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GGAAAAGAAGCCAGTGTTCAT	0.348000													12	92					0	0	1	0	0
LRRTM4	80059	broad.mit.edu	37	2	77745979	77745979	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:77745979C>A	ENST00000409088.3	-	3	1430	c.1016G>T	c.(1015-1017)tGt>tTt	p.C339F	LRRTM4_ENST00000409282.1_Missense_Mutation_p.C340F|LRRTM4_ENST00000409884.1_Missense_Mutation_p.C339F|LRRTM4_ENST00000409911.1_Missense_Mutation_p.C340F|LRRTM4_ENST00000409093.1_Missense_Mutation_p.C339F	NM_024993.4	NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	339	LRRCT.					integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AGGTCCCGCACATATCATGGT	0.403000													4	17					3.59834e-05	4.10083e-05	1	1	0
OVCH2	341277	broad.mit.edu	37	11	7722022	7722022	+	RNA	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:7722022C>A	ENST00000454689.1	-	0	721				OVCH2_ENST00000534193.1_RNA	NM_198185.3	NP_937828.3			ovochymase 2 (gene/pseudogene)											cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		GAGTGAACCTCCTGAATCTCC	0.527000													4	12					0.150653	0.152588	1	1	0
MMP16	4325	broad.mit.edu	37	8	89339376	89339376	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr8:89339376C>A	ENST00000286614.6	-	1	341	c.60G>T	c.(58-60)gtG>gtT	p.V20V	RP11-586K2.1_ENST00000523254.1_RNA|MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	20					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						GCAAGAAAAACACCCCCGAAT	0.478000													33	144					3.90053e-15	5.91747e-15	1	1	0
NAT16	375607	broad.mit.edu	37	7	100817807	100817807	+	Silent	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:100817807C>T	ENST00000300303.2	-	2	520	c.282G>A	c.(280-282)acG>acA	p.T94T	NAT16_ENST00000455377.1_Silent_p.T94T|NAT16_ENST00000443096.1_Silent_p.T94T	NM_198571.2	NP_940973.2	Q8N8M0	CG052_HUMAN	N-acetyltransferase 16 (GCN5-related, putative)	94	N-acetyltransferase.						N-acetyltransferase activity										CCAGCACCACCGTGCGGTCGG	0.677000													22	31					0	0	1	0	0
SLC6A3	6531	broad.mit.edu	37	5	1422008	1422008	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:1422008C>A	ENST00000270349.9	-	5	902	c.775G>T	c.(775-777)Gtg>Ttg	p.V259L	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V259L	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	259					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GAGGTCTTCACGCCCTTCCAG	0.642000													15	122					0.132662	0.135525	1	1	0
GJB7	375519	broad.mit.edu	37	6	87994303	87994303	+	Missense_Mutation	SNP	A	A	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr6:87994303A>T	ENST00000525899.1	-	3	673	c.328T>A	c.(328-330)Tat>Aat	p.Y110N	GJB7_ENST00000296882.3_Missense_Mutation_p.Y110N	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	110					cell communication	connexon complex|integral to membrane				endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		GGGCTGACATAGAGTTTCTTT	0.418000													39	50					0	0	1	0	0
OR2T12	127064	broad.mit.edu	37	1	248458398	248458398	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:248458398G>T	ENST00000317996.1	-	1	482	c.483C>A	c.(481-483)acC>acA	p.T161T		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			GGAAGCTCAGGGTAGCAACAG	0.577000													43	57					3.05275e-18	4.95984e-18	1	1	0
WRN	7486	broad.mit.edu	37	8	30933709	30933709	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr8:30933709G>A	ENST00000298139.5	+	8	994	c.745G>A	c.(745-747)Gac>Aac	p.D249N		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	249	Interaction with WRNIP1 (By similarity).				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CCTACTTAGCGACATGAACAA	0.353000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				20	29					0	0	1	0	0
FECH	2235	broad.mit.edu	37	18	55238745	55238745	+	Silent	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr18:55238745G>A	ENST00000262093.5	-	4	493	c.342C>T	c.(340-342)cgC>cgT	p.R114R	FECH_ENST00000382873.3_Silent_p.R120R|FECH_ENST00000585699.1_5'UTR	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	114					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				TGGGGGTTCGGCGTTTGGCGA	0.473000													21	59					0	0	1	0	0
SIK3	23387	broad.mit.edu	37	11	116729996	116729996	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:116729996C>A	ENST00000375300.1	-	19	2611	c.2606G>T	c.(2605-2607)aGt>aTt	p.S869I	SIK3_ENST00000446921.2_Missense_Mutation_p.S869I|SIK3_ENST00000434315.2_Missense_Mutation_p.S710I|SIK3_ENST00000542607.1_Missense_Mutation_p.S811I|SIK3_ENST00000375288.1_Missense_Mutation_p.S206I|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000292055.4_Missense_Mutation_p.S811I			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	811	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						AGCCTCTGCACTGTCAGCACT	0.587000													24	33					2.98393e-07	3.66538e-07	1	1	0
ZNF256	10172	broad.mit.edu	37	19	58452490	58452490	+	Silent	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:58452490G>A	ENST00000282308.3	-	3	1882	c.1686C>T	c.(1684-1686)ctC>ctT	p.L562L	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	562					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GGTGTTTAACGAGGCTAGAGT	0.468000													29	73					0	0	1	0	0
ILDR2	387597	broad.mit.edu	37	1	166896329	166896329	+	Missense_Mutation	SNP	A	A	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:166896329A>T	ENST00000271417.3	-	7	1024	c.969T>A	c.(967-969)gaT>gaA	p.D323E	ILDR2_ENST00000528703.1_Missense_Mutation_p.D264E|ILDR2_ENST00000469934.2_Missense_Mutation_p.D323E|ILDR2_ENST00000529071.1_Missense_Mutation_p.D304E|ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000525740.1_Missense_Mutation_p.D196E|ILDR2_ENST00000526687.1_Missense_Mutation_p.D215E	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	323						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TTCTGGCTGGATCAAACTGAG	0.473000													84	57					0	0	1	0	0
P2RX5-TAX1BP3	100533970	broad.mit.edu	37	17	3591365	3591365	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:3591365C>T	ENST00000550383.1	-	9	1110	c.922G>A	c.(922-924)Gag>Aag	p.E308K	P2RX5_ENST00000435558.1_Missense_Mutation_p.E308K|P2RX5_ENST00000345901.3_Missense_Mutation_p.E284K|P2RX5_ENST00000225328.5_Missense_Mutation_p.E308K|P2RX5_ENST00000552050.1_Missense_Mutation_p.E248K|P2RX5_ENST00000552276.1_Missense_Mutation_p.E307K|P2RX5_ENST00000551178.1_Missense_Mutation_p.E283K|P2RX5_ENST00000550772.1_5'UTR|P2RX5_ENST00000547178.1_Missense_Mutation_p.E307K																							GTGCGGAACTCCACCCCGGCT	0.622000													5	13					0	0	1	0	0
CELA2A	63036	broad.mit.edu	37	1	15794005	15794005	+	Missense_Mutation	SNP	T	T	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:15794005T>A	ENST00000359621.4	+	7	789	c.764T>A	c.(763-765)gTc>gAc	p.V255D	CELA2B_ENST00000494280.1_3'UTR	NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	255	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						TTCACGCGGGTCTCCAATTAC	0.627000													31	30					0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17697660	17697660	+	Nonsense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:17697660G>A	ENST00000399080.2	-	1	2046	c.2023C>T	c.(2023-2025)Caa>Taa	p.Q675*		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	675										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CCTGTATTTTGAGTTGTCATA	0.269000													14	40					0	0	1	0	0
MYH2	4620	broad.mit.edu	37	17	10442632	10442632	+	Missense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:10442632C>G	ENST00000245503.5	-	14	1690	c.1306G>C	c.(1306-1308)Gag>Cag	p.E436Q	MYH2_ENST00000532183.1_Missense_Mutation_p.E436Q|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.E436Q	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	436	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.E436*(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AACATCTTCTCGTAGACGGCT	0.483000													88	151					0	0	1	0	0
DPP6	1804	broad.mit.edu	37	7	154519508	154519508	+	Missense_Mutation	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:154519508G>C	ENST00000404039.1	+	8	1189	c.602G>C	c.(601-603)tGt>tCt	p.C201S	DPP6_ENST00000377770.3_Missense_Mutation_p.C265S|DPP6_ENST00000427557.1_Missense_Mutation_p.C158S|DPP6_ENST00000332007.3_Missense_Mutation_p.C203S	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	265					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATCTACTACTGTGCACATGTC	0.383000													24	33					0	0	1	0	0
AC096579.13	0	broad.mit.edu	37	2	89157116	89157116	+	RNA	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:89157116G>A	ENST00000452230.1	-	0	39				IGKC_ENST00000390237.2_RNA|AC096579.7_ENST00000430694.1_RNA																							TTATTCAGCAGGCACACAACA	0.512000													13	24					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105415703	105415703	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr14:105415703C>A	ENST00000333244.5	-	7	6204	c.6085G>T	c.(6085-6087)Ggg>Tgg	p.G2029W	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2029						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTCAGGTCCCCCTGCATGGAG	0.662000													26	101					2.95478e-19	4.89019e-19	1	1	0
DUS2	54920	broad.mit.edu	37	16	68072016	68072016	+	Silent	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr16:68072016G>A	ENST00000565263.1	+	3	584	c.90G>A	c.(88-90)ctG>ctA	p.L30L	DUS2L_ENST00000358896.6_Silent_p.L30L|DUS2L_ENST00000432752.1_Silent_p.L30L	NM_017803.3	NP_060273.1	Q9NX74	DUS2L_HUMAN		30					tRNA processing	endoplasmic reticulum	double-stranded RNA binding|flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|stomach(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0131)|Epithelial(162;0.0564)		TGAGGCTGCTGGCCCTGGATT	0.483000													30	31					0	0	1	0	0
SPATA31D5P	347127	broad.mit.edu	37	9	84530969	84530969	+	RNA	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr9:84530969C>T	ENST00000527857.1	+	0	991					NR_026851.1																						CAGTCTAAAGCAAGTCCCACA	0.483000													9	14					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179423190	179423190	+	Missense_Mutation	SNP	T	T	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:179423190T>A	ENST00000589042.1	-	327	87220	c.86996A>T	c.(86995-86997)cAt>cTt	p.H28999L	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H20059L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H26431L|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H27358L|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H19934L|TTN_ENST00000342175.6_Missense_Mutation_p.H20126L|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27358	Fibronectin type-III 111.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACAACGTGATGGGTTGACTT	0.453000													20	35					0	0	1	0	0
GPR149	344758	broad.mit.edu	37	3	154147311	154147311	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:154147311G>T	ENST00000389740.2	-	1	193	c.94C>A	c.(94-96)Ctg>Atg	p.L32M		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	32						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TAGATATTCAGGGTTCCTGGC	0.388000													41	90					4.32679e-17	6.88794e-17	1	1	0
TRIO	7204	broad.mit.edu	37	5	14286999	14286999	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:14286999G>T	ENST00000344204.4	+	4	391	c.367G>T	c.(367-369)Ggc>Tgc	p.G123C	TRIO_ENST00000509967.2_Missense_Mutation_p.G74C|TRIO_ENST00000537187.1_Missense_Mutation_p.G123C	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	123	CRAL-TRIO.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTGCAAGCGTGGCTTCACGGT	0.577000													10	90					5.16669e-11	7.15077e-11	1	1	0
PLVAP	83483	broad.mit.edu	37	19	17476918	17476918	+	Silent	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:17476918C>T	ENST00000252590.4	-	2	517	c.456G>A	c.(454-456)aaG>aaA	p.K152K		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	152						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CATCGCAGCTCTTGTTCATGT	0.557000													57	86					0	0	1	0	0
PACRG	135138	broad.mit.edu	37	6	163149344	163149344	+	Missense_Mutation	SNP	A	A	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr6:163149344A>T	ENST00000337019.3	+	2	301	c.77A>T	c.(76-78)cAa>cTa	p.Q26L	PACRG_ENST00000366889.2_Missense_Mutation_p.Q26L|PACRG_ENST00000366888.2_Missense_Mutation_p.Q26L|PACRG_ENST00000542669.1_3'UTR	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	26										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		CTGCTGGCACAACAGCCGCTC	0.483000													55	87					0	0	1	0	0
TYR	7299	broad.mit.edu	37	11	88911130	88911130	+	Silent	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:88911130G>A	ENST00000263321.5	+	1	511	c.9G>A	c.(7-9)ctG>ctA	p.L3L	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	3					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	GAATGCTCCTGGCTGTTTTGT	0.488000													27	63					0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28509027	28509027	+	Missense_Mutation	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr16:28509027G>C	ENST00000564831.1	+	2	2698	c.2665G>C	c.(2665-2667)Gtt>Ctt	p.V889L	APOBR_ENST00000328423.5_Missense_Mutation_p.V880L|APOBR_ENST00000431282.1_Missense_Mutation_p.V880L	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	880	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						AGAAGAGGCTGTTGGATGGCA	0.622000													6	4					0	0	1	0	0
NFATC2	4773	broad.mit.edu	37	20	50048656	50048656	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr20:50048656C>A	ENST00000371564.3	-	9	2889	c.2670G>T	c.(2668-2670)gcG>gcT	p.A890A	NFATC2_ENST00000414705.1_Silent_p.A870A|NFATC2_ENST00000396009.3_Silent_p.A890A	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	890					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TGGTCACCCCCGCAGGTAATA	0.532000													69	86					6.00099e-30	1.09249e-29	1	1	0
TNR	7143	broad.mit.edu	37	1	175372342	175372342	+	Nonsense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:175372342G>A	ENST00000367674.1	-	4	1618	c.910C>T	c.(910-912)Cga>Tga	p.R304*	TNR_ENST00000263525.2_Nonsense_Mutation_p.R304*	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN	tenascin R	304	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.R304*(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CATTGTCCTCGCCCACTGCAG	0.612000													31	52					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168106649	168106649	+	Nonsense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:168106649C>G	ENST00000409195.1	+	9	8836	c.8747C>G	c.(8746-8748)tCa>tGa	p.S2916*	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000295237.9_Nonsense_Mutation_p.S2916*|XIRP2_ENST00000409273.1_Nonsense_Mutation_p.S2694*|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2741					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACTAAAGATTCAAAGCAAGAG	0.373000													16	150					0	0	1	0	0
CRADD	8738	broad.mit.edu	37	12	94243995	94243995	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:94243995G>T	ENST00000542893.2	+	3	866	c.548G>T	c.(547-549)gGg>gTg	p.G183V	CRADD_ENST00000548483.1_Intron|CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000332896.3_Missense_Mutation_p.G183V			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	183	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						CTGCACAACGGGCTGCGGGCT	0.657000													48	53					8.94452e-30	1.6242e-29	1	1	0
DBNL	28988	broad.mit.edu	37	7	44097810	44097810	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:44097810G>A	ENST00000494774.1	+	7	656	c.635G>A	c.(634-636)cGt>cAt	p.R212H	DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000440166.1_Missense_Mutation_p.R109H|DBNL_ENST00000490734.2_Missense_Mutation_p.R117H|DBNL_ENST00000452943.1_Missense_Mutation_p.R187H|DBNL_ENST00000468694.1_Missense_Mutation_p.R212H|DBNL_ENST00000448521.1_Missense_Mutation_p.R212H|DBNL_ENST00000456905.1_Missense_Mutation_p.R163H	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	212					activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						CGCCGGGAGCGTGAGCTGCGT	0.706000													2	2					0	0	1	0	0
SDK2	54549	broad.mit.edu	37	17	71382003	71382003	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:71382003C>A	ENST00000392650.3	-	32	4552	c.4552G>T	c.(4552-4554)Gtg>Ttg	p.V1518L	SDK2_ENST00000388726.3_Missense_Mutation_p.V1518L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1518	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CGGATTAGCACGGAGGTGGTG	0.637000													3	13					1	1	1	1	0
RNF112	7732	broad.mit.edu	37	17	19318441	19318441	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:19318441G>T	ENST00000461366.1	+	11	1432	c.1217G>T	c.(1216-1218)gGg>gTg	p.G406V		NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	406							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CGCTGCCAGGGGTACTGGAAC	0.632000													19	29					1.10513e-12	1.59481e-12	1	1	0
EMP1	2012	broad.mit.edu	37	12	13367624	13367624	+	Silent	SNP	A	A	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:13367624A>G	ENST00000256951.5	+	5	672	c.473A>G	c.(472-474)tAa>tGa	p.*158*	EMP1_ENST00000544053.1_3'UTR|EMP1_ENST00000431267.2_Silent_p.*91*|EMP1_ENST00000542289.1_Intron|EMP1_ENST00000396301.3_3'UTR|EMP1_ENST00000537612.1_Intron	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	0					cell growth|cell proliferation|epidermis development	integral to membrane|membrane fraction							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		AGAAAGAAATAAGGCCGGACG	0.542000													26	59					0	0	1	0	0
PAX8	7849	broad.mit.edu	37	2	114002065	114002065	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:114002065G>T	ENST00000429538.3	-	4	522	c.328C>A	c.(328-330)Cgg>Agg	p.R110R	PAX8_ENST00000397647.3_Silent_p.R110R|AC016683.6_ENST00000333145.5_RNA|AC016683.6_ENST00000445745.1_RNA|PAX8_ENST00000348715.5_Silent_p.R110R|PAX8_ENST00000263335.7_Silent_p.R110R|PAX8_ENST00000263334.5_Silent_p.R110R|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000556070.1_RNA|AC016683.6_ENST00000436293.2_RNA|AC016683.6_ENST00000422956.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	110	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GCCAGGAGCCGGTCTCGGATC	0.592000			T	PPARG	follicular thyroid		Thyroid dysgenesis						113	289					9.4957e-49	1.81235e-48	1	1	0
C4BPA	722	broad.mit.edu	37	1	207317924	207317924	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:207317924C>A	ENST00000367070.3	+	12	1850	c.1656C>A	c.(1654-1656)ggC>ggA	p.G552G		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	552					complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGCTCACAGGCAAAAGACTCA	0.463000													25	64					6.32553e-13	9.16556e-13	1	1	0
PEAK1	79834	broad.mit.edu	37	15	77474191	77474191	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:77474191C>A	ENST00000560626.2	-	4	553	c.78G>T	c.(76-78)ttG>ttT	p.L26F	PEAK1_ENST00000312493.4_Missense_Mutation_p.L26F|PEAK1_ENST00000558305.1_Missense_Mutation_p.L26F			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	26					cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										GAAGCTGGTGCAAACTTTTAG	0.433000													18	85					1.33834e-09	1.7728e-09	1	1	0
ARHGAP30	257106	broad.mit.edu	37	1	161018190	161018190	+	Missense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:161018190C>G	ENST00000368013.3	-	12	2941	c.2621G>C	c.(2620-2622)tGt>tCt	p.C874S	ARHGAP30_ENST00000368015.1_Missense_Mutation_p.C697S|ARHGAP30_ENST00000368016.3_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	874	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTCTTTGGCACAGTCAACCTC	0.587000													35	84					0	0	1	0	0
WRN	7486	broad.mit.edu	37	8	30958372	30958372	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr8:30958372G>T	ENST00000298139.5	+	18	2238	c.1989G>T	c.(1987-1989)acG>acT	p.T663T		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	663	Helicase ATP-binding.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CAGGTATCACGCTCATTGCTG	0.393000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				11	12					6.40141e-05	7.24881e-05	1	1	0
WNK4	65266	broad.mit.edu	37	17	40948332	40948332	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:40948332C>A	ENST00000246914.5	+	17	3644	c.3623C>A	c.(3622-3624)cCa>cAa	p.P1208Q		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	1208					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TCTGAGCCCCCAGGCCCTGGT	0.652000													3	15					0.150653	0.152588	1	1	0
SLITRK2	84631	broad.mit.edu	37	X	144906315	144906315	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chrX:144906315G>T	ENST00000370490.1	+	1	6627	c.2372G>T	c.(2371-2373)cGa>cTa	p.R791L	SLITRK2_ENST00000434188.2_Missense_Mutation_p.R791L|SLITRK2_ENST00000413937.2_Missense_Mutation_p.R791L|SLITRK2_ENST00000428560.2_Missense_Mutation_p.R791L|SLITRK2_ENST00000447897.2_Missense_Mutation_p.R791L			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	791						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TATGAATCTCGACGCCAAAAC	0.453000													70	48					7.93275e-45	1.50595e-44	1	1	0
ZNF518A	9849	broad.mit.edu	37	10	97916991	97916991	+	RNA	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr10:97916991G>T	ENST00000534948.1	+	0	1769							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AAAAAAGAATGGCAAAGACTT	0.343000													3	19					1	1	1	1	0
PGAP1	80055	broad.mit.edu	37	2	197708648	197708648	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:197708648C>A	ENST00000354764.3	-	25	2603	c.2489G>T	c.(2488-2490)aGc>aTc	p.S830I		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	830					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						AGAAGGCATGCTGAGTAATAC	0.353000													19	50					2.37509e-13	3.49134e-13	1	1	0
CSMD2	114784	broad.mit.edu	37	1	33992801	33992801	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:33992801G>T	ENST00000373381.4	-	65	10405	c.10229C>A	c.(10228-10230)gCc>gAc	p.A3410D		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	3266						integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CGTACTCAAGGCTTGGGTGAG	0.527000													15	47					1.3612e-06	1.61345e-06	1	1	0
CENPF	1063	broad.mit.edu	37	1	214814636	214814636	+	Silent	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:214814636C>T	ENST00000366955.3	+	12	3123	c.2955C>T	c.(2953-2955)tcC>tcT	p.S985S		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	985					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TTAATGCATCCTTAAATCAAG	0.348000													37	61					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54806377	54806377	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr6:54806377C>A	ENST00000306858.7	+	5	2724	c.2608C>A	c.(2608-2610)Cca>Aca	p.P870T		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	870										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AACACCTTCTCCAGGTCCAGT	0.433000													43	62					4.17593e-13	6.08812e-13	1	1	0
IQUB	154865	broad.mit.edu	37	7	123152229	123152229	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:123152229G>A	ENST00000466202.1	-	2	742	c.166C>T	c.(166-168)Cat>Tat	p.H56Y	IQUB_ENST00000324698.6_Missense_Mutation_p.H56Y|IQUB_ENST00000434450.1_Missense_Mutation_p.H56Y|IQUB_ENST00000488987.1_Intron			Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	56										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TGTATTGCATGGCTCTCACTG	0.423000													59	177					0	0	1	0	0
TENM3	55714	broad.mit.edu	37	4	183609453	183609453	+	Missense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr4:183609453G>A	ENST00000511685.1	+	12	2293	c.2170G>A	c.(2170-2172)Gat>Aat	p.D724N	TENM3_ENST00000406950.2_Missense_Mutation_p.D724N|TENM3_ENST00000502950.1_3'UTR					teneurin transmembrane protein 3																		GACCTGCAAGGATGGCAAGTG	0.607000													29	38					0	0	1	0	0
KARS	3735	broad.mit.edu	37	16	75669671	75669671	+	Missense_Mutation	SNP	C	C	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr16:75669671C>G	ENST00000319410.5	-	7	907	c.786G>C	c.(784-786)ttG>ttC	p.L262F	KARS_ENST00000568378.1_Intron|KARS_ENST00000302445.3_Missense_Mutation_p.L234F	NM_001130089.1	NP_001123561.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	234					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	CATTCAGGATCAAGTCCAAGT	0.383000													34	40					0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57397542	57397542	+	Missense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:57397542C>A	ENST00000543257.1	-	12	1972	c.1406G>T	c.(1405-1407)tGt>tTt	p.C469F	C8B_ENST00000371237.4_Missense_Mutation_p.C521F|C8B_ENST00000535057.1_Missense_Mutation_p.C459F	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	521	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GATGCAGTCACAGCGTGATCC	0.512000													12	42					0.000219431	0.000243432	1	1	0
SNHG14	104472715	broad.mit.edu	37	15	25463927	25463927	+	RNA	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:25463927G>T	ENST00000424208.1	+	0	2994				SNHG14_ENST00000453082.2_RNA	NR_003305.1																						CTGGGACCTGGTGGCTCTGAA	0.592000													17	81					2.23348e-06	2.61248e-06	1	1	0
BAHD1	22893	broad.mit.edu	37	15	40751493	40751493	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:40751493G>T	ENST00000561234.1	+	2	1089	c.830G>T	c.(829-831)gGc>gTc	p.G277V	BAHD1_ENST00000416165.1_Missense_Mutation_p.G277V|BAHD1_ENST00000560846.1_Missense_Mutation_p.G277V			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	277	Pro-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GGCTGGCAAGGCTGCCCTGAT	0.637000													14	55					2.61681e-11	3.66457e-11	1	1	0
ANKRD12	23253	broad.mit.edu	37	18	9258052	9258052	+	Missense_Mutation	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr18:9258052C>T	ENST00000383440.2	+	8	4975	c.4718C>T	c.(4717-4719)gCc>gTc	p.A1573V	ANKRD12_ENST00000400020.3_Missense_Mutation_p.A1573V|ANKRD12_ENST00000262126.3_Missense_Mutation_p.A1596V	NM_001083625.2	NP_001077094.1	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	1596						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GGAAGTGATGCCTCTACCCAG	0.388000													36	75					0	0	1	0	0
PDZRN3	23024	broad.mit.edu	37	3	73432879	73432879	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:73432879G>T	ENST00000263666.4	-	10	2952	c.2838C>A	c.(2836-2838)cgC>cgA	p.R946R	PDZRN3_ENST00000479530.1_Silent_p.R663R|PDZRN3_ENST00000466780.1_Silent_p.R603R|PDZRN3_ENST00000535920.1_Silent_p.R668R|PDZRN3_ENST00000462146.2_Silent_p.R603R	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	946							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCTTCAGGGCGCGCTCCCGCA	0.677000													32	48					8.16721e-17	1.2829e-16	1	1	0
CPSF2	53981	broad.mit.edu	37	14	92609389	92609389	+	Silent	SNP	C	C	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr14:92609389C>T	ENST00000298875.4	+	9	1176	c.891C>T	c.(889-891)gaC>gaT	p.D297D		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	297					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GTTTTGAAGACAAAAGAAATA	0.368000													29	87					0	0	1	0	0
INHBA	3624	broad.mit.edu	37	7	41729622	41729622	+	Missense_Mutation	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:41729622G>T	ENST00000242208.4	-	3	1153	c.907C>A	c.(907-909)Cac>Aac	p.H303N	AC005027.3_ENST00000416150.1_RNA|INHBA_ENST00000464515.1_5'UTR|INHBA_ENST00000442711.1_Missense_Mutation_p.H303N	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A	303					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CGATGAGGGTGGTCTTCAGAC	0.562000										TSP Lung(11;0.080)			49	118					9.90819e-18	1.5952e-17	1	1	0
CDH20	28316	broad.mit.edu	37	18	59206379	59206379	+	Splice_Site	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr18:59206379G>T	ENST00000262717.4	+	9	1928		c.e9+1		CDH20_ENST00000536675.2_Splice_Site|CDH20_ENST00000538374.1_Splice_Site			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GGCAGGACAGGTAAGGTGGCC	0.443000													26	111					2.65835e-16	4.15733e-16	1	1	0
HCN4	10021	broad.mit.edu	37	15	73660114	73660114	+	Silent	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:73660114C>A	ENST00000261917.3	-	1	1491	c.498G>T	c.(496-498)ccG>ccT	p.P166P		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	166					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GCTGGGGCGGCGGCGGCGAGG	0.796000													2	3					0.0784	0.0805557	1	1	0
HOGA1	112817	broad.mit.edu	37	10	99371314	99371314	+	Nonsense_Mutation	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr10:99371314G>A	ENST00000370646.4	+	7	1243	c.882G>A	c.(880-882)tgG>tgA	p.W294*	PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370647.4_Nonsense_Mutation_p.W131*	NM_138413.3	NP_612422.2			4-hydroxy-2-oxoglutarate aldolase 1											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1)	14						TCATGGACTGGTTTGGCTACT	0.582000													29	33					0	0	1	0	0
KRT25	147183	broad.mit.edu	37	17	38907458	38907458	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:38907458C>A	ENST00000312150.4	-	4	850	c.790G>T	c.(790-792)Gag>Tag	p.E264*		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	264	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CGGTTCTGCTCTGCAAGGGCT	0.557000													20	54					1.00905e-13	1.49566e-13	1	1	0
CEACAM20	125931	broad.mit.edu	37	19	45029168	45029168	+	RNA	SNP	G	G	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:45029168G>A	ENST00000454753.1	-	0	440							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GTGTCCTGGGGGTCCCAAACA	0.557000													26	75					0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10535231	10535231	+	Nonsense_Mutation	SNP	C	C	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:10535231C>A	ENST00000583535.1	-	35	5146	c.5059G>T	c.(5059-5061)Gag>Tag	p.E1687*	MYH3_ENST00000226209.7_Nonsense_Mutation_p.E1687*	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1687					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CGCAGCTCCTCCACCTCGGCC	0.652000													14	65					7.93312e-07	9.51438e-07	1	1	0
NIPBL	25836	broad.mit.edu	37	5	37022345	37022345	+	Splice_Site	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:37022345G>T	ENST00000282516.8	+	29	5926		c.e29-1		NIPBL_ENST00000448238.2_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTTTTCTTTAGCTTGATATGC	0.358000													6	37					0.00198382	0.00211488	1	1	0
LAIR2	3904	broad.mit.edu	37	19	55019257	55019257	+	Silent	SNP	G	G	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:55019257G>T	ENST00000301202.2	+	3	344	c.222G>T	c.(220-222)gtG>gtT	p.V74V	LAIR2_ENST00000351841.2_Silent_p.V74V	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	74	Ig-like C2-type.					extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		GTTATAATGTGTTTCGACTTG	0.512000													30	107					7.38237e-10	9.87096e-10	1	1	0
KIAA1549L	25758	broad.mit.edu	37	11	33564327	33564327	+	Silent	SNP	T	T	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:33564327T>C	ENST00000321505.4	+	1	507	c.327T>C	c.(325-327)ttT>ttC	p.F109F	KIAA1549L_ENST00000265654.5_Silent_p.F109F|KIAA1549L_ENST00000389726.3_Silent_p.F109F					KIAA1549-like																		TGCCAACTTTTAAGAATACAG	0.517000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	35					0	0	1	0	0
ALX4	60529	broad.mit.edu	37	11	44289115	44289115	+	Missense_Mutation	SNP	G	G	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr11:44289115G>C	ENST00000329255.3	-	3	938	c.835C>G	c.(835-837)Cag>Gag	p.Q279E		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	279					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CGAACCTGCTGCATCTGCCCA	0.602000													23	69					0	0	1	0	0
BCL9	607	broad.mit.edu	37	1	147091501	147091501	+	Frame_Shift_Del	DEL	C	C	-			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr1:147091501delC	ENST00000234739.3	+	8	2280	c.1540delC	c.(1540-1542)ccfs	p.P517fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	517	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								8	438	---	---	---	---					
MEIS1	4211	broad.mit.edu	37	2	66798466	66798467	+	Frame_Shift_Ins	INS	-	-	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr2:66798466_66798467insC	ENST00000407092.2	+	12	1660_1661	c.1203_1204insC	c.(1201-1206)atccccfs	p.IP401fs	MEIS1_ENST00000495021.2_3'UTR|MEIS1_ENST00000272369.9_3'UTR|MEIS1_ENST00000398506.2_Frame_Shift_Ins_p.IP399fs|MEIS1_ENST00000488550.1_3'UTR|MEIS1_ENST00000444274.2_3'UTR			O00470	MEIS1_HUMAN	Meis homeobox 1	34							sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						AACCCCAGATGCCCCCCCATCC	0.574													6	10	---	---	---	---					
RP11-324C10.1	0	broad.mit.edu	37	3	172994531	172994531	+	RNA	DEL	C	C	-			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:172994531delC	ENST00000447709.1	+	0	216																											ggcagcagctccccacagaag	0.537													5	7	---	---	---	---					
PEX5L	51555	broad.mit.edu	37	3	179533662	179533662	+	Frame_Shift_Del	DEL	G	G	-			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr3:179533662delG	ENST00000467460.1	-	10	1400	c.1070delC	c.(1069-1071)ctfs	p.P357fs	PEX5L_ENST00000485199.1_Frame_Shift_Del_p.P322fs|PEX5L_ENST00000476138.1_Frame_Shift_Del_p.P314fs|PEX5L_ENST00000468741.1_Frame_Shift_Del_p.P165fs|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Frame_Shift_Del_p.P333fs|PEX5L_ENST00000263962.8_Frame_Shift_Del_p.P355fs|PEX5L_ENST00000464614.1_Frame_Shift_Del_p.P249fs|PEX5L_ENST00000392649.3_Frame_Shift_Del_p.P249fs|PEX5L_ENST00000472994.1_Frame_Shift_Del_p.P298fs	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	357					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			TGCATCTCCAGGGTCCTGAAG	0.498													34	91	---	---	---	---					
CFI	3426	broad.mit.edu	37	4	110663662	110663663	+	Frame_Shift_Ins	INS	-	-	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr4:110663662_110663663insT	ENST00000394634.2	-	12	1725_1726	c.1518_1519insA	c.(1516-1521)aaaaatfs	p.N507fs	CFI_ENST00000512148.1_Frame_Shift_Ins_p.N500fs|CFI_ENST00000394635.3_Frame_Shift_Ins_p.N515fs	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	507	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		CATTCCATTTCTTTTTCATAGA	0.396													27	32	---	---	---	---					
PRDM9	56979	broad.mit.edu	37	5	23526403	23526404	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr5:23526403_23526404delTC	ENST00000296682.3	+	11	1388_1389	c.1206_1207delTC	c.(1204-1209)tttcfs	p.FL402fs		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	402					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTCAGAAATTTCTCAGTCAACA	0.465										HNSCC(3;0.000094)			42	116	---	---	---	---					
MDFI	4188	broad.mit.edu	37	6	41621169	41621171	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr6:41621169_41621171delCTG	ENST00000373050.4	+	4	601_603	c.414_416delCTG	c.(412-417)ctc>ct	p.LC138del				Q99750	MDFI_HUMAN	MyoD family inhibitor	199					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			ACTCGTGCCTCTGCTGCTGCTGC	0.655													7	214	---	---	---	---					
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs60664426		TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)del	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis|rRNA processing	nucleolus		p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777													7	5	---	---	---	---					
MLXIPL	51085	broad.mit.edu	37	7	73011880	73011880	+	Frame_Shift_Del	DEL	G	G	-			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:73011880delG	ENST00000313375.3	-	9	1282	c.1235delC	c.(1234-1236)cafs	p.P414fs	MLXIPL_ENST00000434326.1_Frame_Shift_Del_p.P321fs|MLXIPL_ENST00000395189.1_Frame_Shift_Del_p.P321fs|MLXIPL_ENST00000414749.2_Frame_Shift_Del_p.P414fs|MLXIPL_ENST00000354613.1_Frame_Shift_Del_p.P414fs|MLXIPL_ENST00000429400.2_Frame_Shift_Del_p.P414fs	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	414	Poly-Pro.				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GAAGGGAGGTGGGGGGCAGGG	0.672													4	5	---	---	---	---					
DLX6	1750	broad.mit.edu	37	7	96635363	96635364	+	In_Frame_Ins	INS	-	-	GCA	rs34325324		TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr7:96635363_96635364insGCA	ENST00000518156.2	+	1	504_505	c.74_75insGCA	c.(73-75)gca>gGCAca	p.25_25A>GT	DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000007660.5_In_Frame_Ins_p.25_25A>GT|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000458352.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					ATGGAGTTCGGgcagcagcagc	0.644													7	16	---	---	---	---					
SNTG1	54212	broad.mit.edu	37	8	51362235	51362236	+	Frame_Shift_Ins	INS	-	-	A			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr8:51362235_51362236insA	ENST00000522124.1	+	6	888_889	c.227_228insA	c.(226-228)ggafs	p.G76fs	SNTG1_ENST00000518864.1_Frame_Shift_Ins_p.G76fs|SNTG1_ENST00000517473.1_Frame_Shift_Ins_p.G76fs|SNTG1_ENST00000276467.5_Frame_Shift_Ins_p.G76fs	NM_018967.2	NP_061840.1	Q9NSN8	SNTG1_HUMAN	syntrophin, gamma 1	76	PDZ.				cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CAGGGAGGAGCAGAACATAACA	0.337													16	33	---	---	---	---					
SOHLH1	402381	broad.mit.edu	37	9	138588610	138588611	+	Frame_Shift_Ins	INS	-	-	G			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr9:138588610_138588611insG	ENST00000298466.5	-	5	568_569	c.508_509insC	c.(508-510)ggafs	p.G170fs	SOHLH1_ENST00000425225.1_Frame_Shift_Ins_p.G170fs	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	170					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CGCTGGATCCAGGGACCAAGGA	0.629													30	49	---	---	---	---					
PCDH15	65217	broad.mit.edu	37	10	55568988	55568988	+	Frame_Shift_Del	DEL	C	C	-			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr10:55568988delC	ENST00000395445.1	-	36	5216	c.4822delG	c.(4822-4824)aafs	p.E1608fs	PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000395442.1_Frame_Shift_Del_p.E473fs|PCDH15_ENST00000395440.1_Frame_Shift_Del_p.E542fs|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Frame_Shift_Del_p.E804fs|PCDH15_ENST00000373965.2_Intron	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TCACTGTATTCAGTATAGTCG	0.458										HNSCC(58;0.16)			10	61	---	---	---	---					
WNT8B	7479	broad.mit.edu	37	10	102239691	102239691	+	Frame_Shift_Del	DEL	A	A	-			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr10:102239691delA	ENST00000343737.5	+	3	291	c.163delA	c.(163-165)agfs	p.K55fs		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	55					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		TGAAGAATGCAAGTATCAGTT	0.527													31	49	---	---	---	---					
LRTM2	654429	broad.mit.edu	37	12	1940354	1940355	+	Frame_Shift_Ins	INS	-	-	C			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:1940354_1940355insC	ENST00000543818.1	+	4	1163_1164	c.321_322insC	c.(319-324)ctcccgfs	p.LP107fs	LRTM2_ENST00000299194.1_Frame_Shift_Ins_p.LP107fs|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000587995.1_Intron|LRTM2_ENST00000535041.1_Frame_Shift_Ins_p.LP107fs|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000585708.1_Intron|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000382722.5_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	107						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			TGGACCGGCTGCCCCGCTCCAT	0.599													41	98	---	---	---	---					
SLCO1C1	53919	broad.mit.edu	37	12	20890185	20890186	+	Frame_Shift_Ins	INS	-	-	A	rs140193226	by1000genomes	TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:20890185_20890186insA	ENST00000381552.1	+	11	1895_1896	c.1527_1528insA	c.(1525-1530)tcacagfs	p.Q510fs	SLCO1C1_ENST00000266509.2_Frame_Shift_Ins_p.Q510fs|SLCO1C1_ENST00000540354.1_Frame_Shift_Ins_p.Q461fs|SLCO1C1_ENST00000545102.1_Frame_Shift_Ins_p.Q392fs|SLCO1C1_ENST00000545604.1_Frame_Shift_Ins_p.Q510fs			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	510	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			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)					GTCAAACCTCCAACAGGAGTGG	0.411													23	67	---	---	---	---					
GOLGA2P5	55592	broad.mit.edu	37	12	100562932	100562932	+	RNA	DEL	G	G	-	rs75932392		TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr12:100562932delG	ENST00000397112.4	-	0	599					NR_036632.1															large_intestine(1)|lung(3)	4						TTTtttttttgttgttgtttg	0.428													3	6	---	---	---	---					
KLF13	51621	broad.mit.edu	37	15	31664259	31664260	+	Frame_Shift_Del	DEL	CG	CG	-	rs144180630	byFrequency	TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr15:31664259_31664260delCG	ENST00000307145.3	+	2	982_983	c.624_625delCG	c.(622-627)ttcgfs	p.FA208fs	KLF13_ENST00000560473.1_Frame_Shift_Del_p.FA20fs	NM_015995.2	NP_057079.2	Q9Y2Y9	KLF13_HUMAN	Kruppel-like factor 13	208					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)	2		all_lung(180;3.71e-11)		all cancers(64;1.11e-18)|Epithelial(43;1.73e-14)|GBM - Glioblastoma multiforme(186;0.00016)|Colorectal(1;0.00158)|BRCA - Breast invasive adenocarcinoma(123;0.00255)|COAD - Colon adenocarcinoma(236;0.0446)|READ - Rectum adenocarcinoma(1;0.13)|Lung(196;0.171)		ACAAGAAGTTCGCGCGCTCCGA	0.649													6	11	---	---	---	---					
ATXN2L	11273	broad.mit.edu	37	16	28847321	28847326	+	In_Frame_Del	DEL	TGATGC	TGATGC	-			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr16:28847321_28847326delTGATGC	ENST00000336783.4	+	22	3130_3135	c.2963_2968delTGATGC	c.(2962-2970)gtg>g	p.VML988del	ATXN2L_ENST00000325215.6_In_Frame_Del_p.VML988del|ATXN2L_ENST00000570200.1_In_Frame_Del_p.VML988del|ATXN2L_ENST00000564304.1_In_Frame_Del_p.VML994del|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_In_Frame_Del_p.VML988del|ATXN2L_ENST00000382686.4_In_Frame_Del_p.VML988del|ATXN2L_ENST00000340394.8_In_Frame_Del_p.VML988del	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	988						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CCGCCCCAGGTGATGCTGCTGCACCC	0.655													37	72	---	---	---	---					
SALL1	6299	broad.mit.edu	37	16	51175656	51175658	+	In_Frame_Del	DEL	GCT	GCT	-	rs13336129	byFrequency	TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr16:51175656_51175658delGCT	ENST00000440970.1	-	2	615_617	c.184_186delAGC	c.(184-186)del	p.S62del	SALL1_ENST00000251020.4_In_Frame_Del_p.S159del|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	159					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S159G(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			cgccgccgccgctgctgctgctg	0.631													7	85	---	---	---	---					
THAP11	57215	broad.mit.edu	37	16	67876538	67876538	+	Frame_Shift_Del	DEL	A	A	-			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr16:67876538delA	ENST00000303596.1	+	1	326	c.81delA	c.(79-81)ccfs	p.P27fs	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	27					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		ACACGTTTCCAAAGGACGCTG	0.652													2	4	---	---	---	---					
LRRC75A-AS1	125144	broad.mit.edu	37	17	16344166	16344167	+	RNA	INS	-	-	AA	rs149284927		TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:16344166_16344167insAA	ENST00000475953.1	+	0	483				C17orf76-AS1_ENST00000579473.1_RNA|RP11-138I1.3_ENST00000585048.1_lincRNA|C17orf76-AS1_ENST00000460249.1_RNA|C17orf76-AS1_ENST00000584141.1_RNA|C17orf76-AS1_ENST00000478103.2_RNA|C17orf76-AS1_ENST00000583400.2_RNA|C17orf76-AS1_ENST00000582911.1_RNA|C17orf76-AS1_ENST00000581913.1_RNA|C17orf76-AS1_ENST00000477249.2_RNA|C17orf76-AS1_ENST00000584926.1_RNA|C17orf76-AS1_ENST00000492250.1_RNA|C17orf76-AS1_ENST00000491009.1_RNA|C17orf76-AS1_ENST00000580770.1_RNA|C17orf76-AS1_ENST00000487066.1_RNA|C17orf76-AS1_ENST00000580180.1_RNA|C17orf76-AS1_ENST00000483140.1_RNA|C17orf76-AS1_ENST00000481898.1_RNA|C17orf76-AS1_ENST00000480811.1_RNA|C17orf76-AS1_ENST00000475947.2_RNA|C17orf76-AS1_ENST00000584177.1_RNA|C17orf76-AS1_ENST00000472367.1_RNA|C17orf76-AS1_ENST00000481027.1_RNA|C17orf76-AS1_ENST00000470491.2_RNA|C17orf76-AS1_ENST00000484836.1_RNA|C17orf76-AS1_ENST00000581718.1_RNA	NR_027667.1																						gactccatctcaaaaaaaaaaa	0.416													4	3	---	---	---	---					
RP11-51L5.5	0	broad.mit.edu	37	17	60366126	60366127	+	RNA	INS	-	-	T			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr17:60366126_60366127insT	ENST00000602493.1	-	0	452_453																											TTGCTTAGACCTGTGGCTCCCT	0.411													21	85	---	---	---	---					
KIRREL2	84063	broad.mit.edu	37	19	36349442	36349442	+	Frame_Shift_Del	DEL	C	C	-			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr19:36349442delC	ENST00000360202.5	+	3	542	c.344delC	c.(343-345)gcfs	p.A115fs	KIRREL2_ENST00000592409.1_Frame_Shift_Del_p.A115fs|KIRREL2_ENST00000262625.7_Frame_Shift_Del_p.A115fs|NPHS1_ENST00000591817.1_Intron|KIRREL2_ENST00000586102.2_Frame_Shift_Del_p.A115fs|KIRREL2_ENST00000347900.6_Frame_Shift_Del_p.A65fs	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	115	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCAGACCAGCCCAACTGCAC	0.607													35	98	---	---	---	---					
SEC23B	10483	broad.mit.edu	37	20	18505277	18505277	+	Frame_Shift_Del	DEL	C	C	-			TCGA-53-A4EZ-01A-12D-A24P-08	TCGA-53-A4EZ-10A-01D-A24P-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1645b860-3384-436f-811f-d4cd624c5189	f7518723-485a-497f-9568-e6d3e34a7ffc	g.chr20:18505277delC	ENST00000336714.3	+	5	999	c.567delC	c.(565-567)ttfs	p.F189fs	SEC23B_ENST00000377465.1_Frame_Shift_Del_p.F189fs|SEC23B_ENST00000262544.2_Frame_Shift_Del_p.F189fs|SEC23B_ENST00000377475.3_Frame_Shift_Del_p.F189fs	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	189					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GTTATGTCTTCCGAGGGACCA	0.438													48	121	---	---	---	---					
