Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATGT others(183): Show ATATATGTGTGTATATATATATATATATATATATATGTGTATATATATAT ATATATATATATGTGTATATATATATATATATATATATATGTGTATATAT ATATATATATATATATGTGTATATATATATATATATATATATATGTGTAT ATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0039 a0002c0002t0039	a0002c0002t0039g0243 a0002c0002t0039g0243	1	218	0.0046	190	c.290 others(205): Show c.290-150_290-149insTATGTGTGTATATATATATATATATATATA TATGTGTATATATATATATATATATATATGTGTATATATATATATATATA TATATATGTGTATATATATATATATATATATATGTGTATATATATATATA TATATATATATGTGTATATATATATATATATATATATATATATATATATA TATATATGTA	CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP3A5_chr7_99643194_99684996	99675633	T T	TCCCCACT others(183): Show TCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCCTTCCCCTCC CCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCC TCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCC CCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG01515.hp2 others(15): Show HG00099.hp1 HG00642.hp2 HG01515.hp2 HG01891.hp1 HG02523.hp1 HG02647.hp2 HG02738.hp2 HG03471.hp1 HG03486.hp1 HG03491.hp1 HG03654.hp1 HG03704.hp2 NA18522.hp1 NA18939.hp1 NA18971.hp2 NA18989.hp2 NA19054.hp2 NA19075.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0008 others(1): Show a0001c0001 a0001c0002 a0002c0008 a0002c0009	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0008t0002 a0002c0009t0002	a0001c0001t0001g0017 a0001c0001t0001g0046 a0001c0001t0001g0063 others(12): Show a0001c0001t0001g0017 a0001c0001t0001g0046 a0001c0001t0001g0063 a0001c0001t0001g0173 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0002t0001g0177 a0002c0008t0002g0185 a0002c0009t0002g0186	18	277	0.0650	190	c.165 others(205): Show c.165+481_165+482insGGGAGGGGGGAGGAGGGGAGGGGAGGGGGG AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAG GGGAGAGGAGAGGGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGGAG AGGAGAGGAGGGGAGGGGAAGGGGGAGGGGAGAGGGGAGGGGGAGGGGAG AGGAGTGGGG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
DGKD_chr2_233349494_233477098	233397135	A A	ACCAGAGG others(183): Show ACCAGAGGGGAGCAGGGTGGCTGGCAGAGGCCAGAGTGAGAGGACACCAG AGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGG GGACCAGGGTGGCTGGGGGGGGGGGGTGTCAGAGTGAGAGGACACCAGAG GGGACCAGGGTGGCTGCGGGGGGGGCCAGAGTGAGAGGACT	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0261 a0001c0001t0002g0261	1	322	0.0031	190	c.348 others(207): Show c.348+6662_348+6663insGCAGGGTGGCTGGCAGAGGCCAGAGTGA GAGGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAG GACTCCAGAGGGGACCAGGGTGGCTGGGGGGGGGGGGTGTCAGAGTGAGA GGACACCAGAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGTGAGAGGA CTCCAGAGGGGA	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DGKD_chr2_233349494_233477098	233397203	T T	TGCGGGGG others(183): Show TGCGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTGC GGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGG GGGGGCCAGAGCGAGAGGACTCCAGAGGGGACCAGGGTGGCTGCGGGGGG GGGCCAGAGCGAGAGGACACCAGAGGGGACCAGGGTGGCTG	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0062 a0001c0001t0002g0062	1	51	0.0196	190	c.348 others(207): Show c.348+6721_348+6722insCGGGGGGGGCCAGAGCGAGAGGACACCA GAGGGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAG GGGACCAGGGTGGCTGCGGGGGGGGCCAGAGCGAGAGGACTCCAGAGGGG ACCAGGGTGGCTGCGGGGGGGGGCCAGAGCGAGAGGACACCAGAGGGGAC CAGGGTGGCTGG	DGKD	ENSG00000077044.11	transcript	ENST00000264057.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
DHX40_chr17_59560610_59613345	59569700	T T	TATATATA others(183): Show TATATATATATCTATATATATATCTATATATATATATAGATATATATATA ATATATATATCTATATATATATATAGATATATATATAATATATATATCTA TATATATAGATATATATATTATATATATATCTATATATATATAGATATAT ATATAATATATATATCTAATATATATATAGATATATATATA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	196	0.0051	190	c.281 others(205): Show c.281-796_281-795insCTATATATATATATAGATATATATATAATA TATATATCTATATATATATATAGATATATATATAATATATATATCTATAT ATATAGATATATATATTATATATATATCTATATATATATAGATATATATA TAATATATATATCTAATATATATATAGATATATATATAATATATATATCT ATATATATAT	DHX40	ENSG00000108406.10	transcript	ENST00000251241.9	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
DIP2B_chr12_50499985_50753657	50593784	C C	CCTCCCCT others(183): Show CCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCC CTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	35	0.0286	190	c.101 others(209): Show c.101-32191_101-32190insTCCCCTCCCCTCCCCCCTCCCCTCCC CTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCC CCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCC CCCTCCCCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCCCTCCCCTC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2B_chr12_50499985_50753657	50598742	C C	CCCCTCTC others(183): Show CCCCTCTCCCCCTCTCCCCTCCCCCTCCCCTCTCCCCCTCTCCCCTCCCC TCCCCCTCCCGTCTTCCCCTCTCCCCTCCCCTCTTCCCCCTCTCCCCTCC CCTCTCCCCCCTCCCCTCTCCCCCTCTCCCCCTCCCCTCTCCCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02615.hp1 NA18944.hp2 HG01081.hp1 HG02615.hp1 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0157 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0157	3	280	0.0107	190	c.101 others(209): Show c.101-27231_101-27230insTCTCCCCCTCTCCCCTCCCCCTCCCC TCTCCCCCTCTCCCCTCCCCTCCCCCTCCCGTCTTCCCCTCTCCCCTCCC CTCTTCCCCCTCTCCCCTCCCCTCTCCCCCCTCCCCTCTCCCCCTCTCCC CCTCCCCTCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCTCCC	DIP2B	ENSG00000066084.13	transcript	ENST00000301180.10	protein_coding	1/37		INFO_REALIGN_3_PRIME	chr12	TogoVar
DIP2C_chr10_269201_694668	523521	T T	TACCGGAT others(183): Show TACCGGATGCAAAGGACCCTGGAGTGAAGATGCAGGGGCTCTGTGTCACC CACACACTCGTTTCTACTGGATGCAAAGGACCCTGGAGTGAAGATGCAGG GACTGTGTCACCCACACACTCGTTTCTACCGGATGCAAAGGACCCTGGAG TGAAGATGCAGGGACTCTGCGTGACCCACACACTCGTTTCC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0009 a0001c0016t0009	a0001c0016t0009g0073 a0001c0016t0009g0073	1	2	0.5000	190	c.86- others(207): Show c.86-36992_86-36991insGGAAACGAGTGTGTGGGTCACGCAGAGT CCCTGCATCTTCACTCCAGGGTCCTTTGCATCCGGTAGAAACGAGTGTGT GGGTGACACAGTCCCTGCATCTTCACTCCAGGGTCCTTTGCATCCAGTAG AAACGAGTGTGTGGGTGACACAGAGCCCCTGCATCTTCACTCCAGGGTCC TTTGCATCCGGT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	848871	G G	GTGCGTGT others(183): Show GTGCGTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCAGTGTAGGGTCG TGCGGTGCGTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCAGTGTAGG GTCGTGCGGTGCGTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCAGTG TAGGAACGTGCCAGGGTTTGTTCCAGTCTAGGATCTTGTGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0008 a0002c0007t0008	a0002c0007t0008g0040 a0002c0007t0008g0040	1	36	0.0278	190	c.19- others(207): Show c.19-59039_19-59038insCGTGTTCCAGTGTAGGGTCGTGCGGTGC GTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCAGTGTAGGGTCGTGCG GTGCGTGTTCCAGTGTAGGGTCGTGCGGTGCGTGTTCCAGTGTAGGGTCG TGCGGTGCGTGTTCCAGTGTAGGAACGTGCCAGGGTTTGTTCCAGTCTAG GATCTTGTGATG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAJB8_chr3_128457437_128471890	128464827	G G	GCCTTCCT others(183): Show GCCTTCCTTCCCTCCTCCCTCCCTCCCTTCCCCCTCCTTCCTTCATTTCC TCCTTCCTTCCTTCCTTCCTTCCTCCCTTTCTCCTTCCTTCCTTCTTTCT TTCCTTCCTCCCTCCCCTTCCCCCTTCTCCCTTCCCTTCCGTTCCCTGCC TTCCTTCCCTCCTCCCTCCCTCCCTTTCCCACTCCTTCCCT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0022 a0007c0018t0022	a0007c0018t0022g0101 a0007c0018t0022g0101	1	456	0.0022	190	c.-86 others(207): Show c.-866+448_-866+449insAGGGAAGGAGTGGGAAAGGGAGGGAGGG AGGAGGGAAGGAAGGCAGGGAACGGAAGGGAAGGGAGAAGGGGGAAGGGG AGGGAGGAAGGAAAGAAAGAAGGAAGGAAGGAGAAAGGGAGGAAGGAAGG AAGGAAGGAAGGAGGAAATGAAGGAAGGAGGGGGAAGGGAGGGAGGGAGG AGGGAAGGAAGG	DNAJB8	ENSG00000179407.4	transcript	ENST00000319153.4	protein_coding	2/2			chr3	TogoVar
DOCK3_chr3_50669927_51389198	51015961	A A	ATGATATA others(183): Show ATGATATATATCATATATATCATATATATGATATATATCATATATATCAT ATATATCATATATATCATATATATGATATATATCATATATATCATATATA TCATATATATCATATATATATCATATATATCATATATATGATATATATAT CATATATATCATATATATCATATATATGATATATATATCAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	108	0.0093	190	c.316 others(209): Show c.316-48487_316-48486insTGATATATATCATATATATCATATAT ATGATATATATCATATATATCATATATATCATATATATCATATATATGAT ATATATCATATATATCATATATATCATATATATCATATATATATCATATA TATCATATATATGATATATATATCATATATATCATATATATCATATATAT GATATATATATCAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52			chr3	TogoVar
DOP1A_chr6_83062671_83173471	83145181	G G	GTATATAT others(183): Show GTATATATATAATATATATAATATATATATAATATGTATATATAATATAT ATATAATATGTATATATAATATATATATAATATATATATTATATATAATA TATATAATATATATAATATATATATAATATATATATTATATATATAATAT ATATATAATATATATATTATATATATATAATATATATATAA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	275	0.0036	190	c.554 others(207): Show c.5542-324_5542-323insATATATATATAATATGTATATATAATAT ATATATAATATGTATATATAATATATATATAATATATATATTATATATAA TATATATAATATATATAATATATATATAATATATATATTATATATATAAT ATATATATAATATATATATTATATATATATAATATATATATAATATATAT ATAATATATATA	DOP1A	ENSG00000083097.15	transcript	ENST00000349129.7	protein_coding	24/38		INFO_REALIGN_3_PRIME	chr6	TogoVar
DPEP1_chr16_89608642_89643433	89619022	G G	GCAGCCCC others(183): Show GCAGCCCCATGCCCCCCTGCCTTCCCCCTCCCTGCAGCTCCCTGCCCCCC CCGCTCCCCTCCCTGCAGCCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAG CTCCATGCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCCCCCGCT CCCCTCCCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTGT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0131 a0002c0002t0001g0131	1	248	0.0040	190	c.-10 others(209): Show c.-107+5307_-107+5308insCCCATGCCCCCCTGCCTTCCCCCTCC CTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCCCCCCTGCCCCC CCTGCTCCCCTCCCTGCAGCTCCATGCCCCCCGCTCCCCTCCCTGCAGCC CCCTGCCCCCCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCTGCTC CCCTCCCTGTCAGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619366	C C	CCCCCCTG others(183): Show CCCCCCTGCTCCCCTCTCTGCAGCCCCCTGCCCCCCTGCTCCCCTCCCTG CAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCAGCCCGCTTTCCCCCTGCT CCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTG CAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0050 a0003c0004t0002g0050	1	237	0.0042	190	c.-10 others(209): Show c.-107+5652_-107+5653insTGCTCCCCTCTCTGCAGCCCCCTGCC CCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCTCTGCA GCCCGCTTTCCCCCTGCTCCCCCCGCTCCCCTCCCTGCAGCCCCCTGCCC CCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGC AGCTCCCTGCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DYNC2I1_chr7_158851558_158951189	158915347	C C	CGACACGC others(183): Show CGACACGCTGGTTGACATTAAGGATGATTGTGAAACGTCAACACGCTGGT TGAGATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGA TGATTGTGAAACCTCGACACGGTGGTTGAGATAAAGGATGATGGTGAAAC CTCGACACGGTGGTTGAGATTAAGGATGATTGTGAAACCTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00423.hp2 others(92): Show HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00642.hp2 HG00733.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp1 HG01099.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp1 HG01496.hp1 HG01891.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02165.hp1 HG02273.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02647.hp1 HG02683.hp1 HG02809.hp2 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03209.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18955.hp2 NA18959.hp1 NA18961.hp2 NA18962.hp1 NA18967.hp2 NA18969.hp2 NA18974.hp2 NA18981.hp2 NA18985.hp1 NA18989.hp2 NA18994.hp1 NA19001.hp2 NA19004.hp2 NA19007.hp2 NA19043.hp1 NA19055.hp1 NA19057.hp1 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19085.hp1 NA20300.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0011 others(5): Show a0001 a0002 a0011 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0002c0002 a0002c0016 others(6): Show a0001c0001 a0002c0002 a0002c0016 a0011c0012 a0012c0015 a0013c0014 a0014c0019 a0015c0017 a0016c0026	a0001c0001t0005 a0002c0002t0001 a0002c0002t0014 others(10): Show a0001c0001t0005 a0002c0002t0001 a0002c0002t0014 a0002c0002t0016 a0002c0002t0017 a0002c0002t0021 a0002c0016t0001 a0011c0012t0001 a0012c0015t0001 a0013c0014t0001 a0014c0019t0001 a0015c0017t0001 a0016c0026t0001	a0001c0001t0005g0190 a0001c0001t0005g0192 a0002c0002t0001g0001 others(92): Show a0001c0001t0005g0190 a0001c0001t0005g0192 a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0074 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0093 a0002c0002t0001g0094 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0101 a0002c0002t0001g0103 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0014g0087 a0002c0002t0016g0034 a0002c0002t0017g0029 a0002c0002t0021g0092 a0002c0016t0001g0018 a0011c0012t0001g0043 a0012c0015t0001g0056 a0013c0014t0001g0106 a0014c0019t0001g0001 a0015c0017t0001g0083 a0016c0026t0001g0065	95	268	0.3545	190	c.179 others(209): Show c.1791+1064_1791+1065insAACACGCTGGTTGAGATTAAGGATGA TTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTGAAACCTC GACACGGTGGTTGAGATAAAGGATGATGGTGAAACCTCGACACGGTGGTT GAGATTAAGGATGATTGTGAAACCTGGACACGCTGGTTGACATTAAGGAT GATTGTGAAACGTC	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158915347	C C	CGACACGC others(183): Show CGACACGCTGGTTGACATTAAGGATGATTGTGAAACGTCAACACGCTGGT TGAGATTAAGGATGATTGTGAAACGTCGACATGCTGGTTGACATTAAGGA TGATTGTGAAACCTCGACACGGTGGTTGAGATAAAGGATGATGGTGAAAC CTCGACACGGTGGTTGAGATTAAGGATGATTGTGAAACCTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03453.hp1 HG02615.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0057 a0002c0002t0001g0010 a0002c0002t0001g0057	2	175	0.0114	190	c.179 others(209): Show c.1791+1064_1791+1065insAACACGCTGGTTGAGATTAAGGATGA TTGTGAAACGTCGACATGCTGGTTGACATTAAGGATGATTGTGAAACCTC GACACGGTGGTTGAGATAAAGGATGATGGTGAAACCTCGACACGGTGGTT GAGATTAAGGATGATTGTGAAACCTGGACACGCTGGTTGACATTAAGGAT GATTGTGAAACGTC	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158915347	C C	CGACACGC others(183): Show CGACACGCTGGTTGACATTAAGGATGATTGTGAAACGTCGACACGCTGGT TGAGATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGA TGATTGTGAAACCTCGACACGGTGGTTGAGATAAAGGATGATGGTGAAAC CTCGACACGGTGGTTGAGATTAAGGATGATTGTGAAACCTG	intron_variant intron_variant	MODIFIER	HG01516.hp1 NA20300.hp2 HG01516.hp1 NA20300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0075 a0002c0002t0001g0077	2	175	0.0114	190	c.179 others(209): Show c.1791+1068_1791+1069insCGCTGGTTGAGATTAAGGATGATTGT GAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTGAAACCTCGACA CGGTGGTTGAGATAAAGGATGATGGTGAAACCTCGACACGGTGGTTGAGA TTAAGGATGATTGTGAAACCTGGACACGCTGGTTGACATTAAGGATGATT GTGAAACGTCGACA	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158916440	G G	GTCGACAC others(183): Show GTCGACACGCTGGTTGAGATTAAGGATGATTGTGAAACGTCGACACGCTG GTTGAGATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAG GATGATTGTGAAACCTCGACACGGTGGTTGAGATTAAGGATGATTGTGAA ACCTCGACACGGTGGTTGAGATTAAGGATGATTGTGAAACA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0101 a0002c0002t0001g0101	1	271	0.0037	190	c.179 others(209): Show c.1791+2135_1791+2136insGATTAAGGATGATTGTGAAACGTCGA CACGCTGGTTGAGATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGA CATTAAGGATGATTGTGAAACCTCGACACGGTGGTTGAGATTAAGGATGA TTGTGAAACCTCGACACGGTGGTTGAGATTAAGGATGATTGTGAAACATC GACACGCTGGTTGA	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158916533	C C	CATTAAGG others(183): Show CATTAAGGATGATTGTGAAACGTTTACACGGTGGTTGACATTAAGGATGA TTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTGAAACGTC GACACGCTGGTTGACATTAAGGATGATTGTGAAACGTCGACACGCTGGTT GACATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGAG	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0193 a0001c0001t0002g0193	1	185	0.0054	190	c.179 others(209): Show c.1792-2185_1792-2184insTTACACGGTGGTTGACATTAAGGATG ATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTGAAACGT CGACACGCTGGTTGACATTAAGGATGATTGTGAAACGTCGACACGCTGGT TGACATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGAGATTAAGGA TGATTGTGAAACGT	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158917094	G G	GCTGGTTG others(183): Show GCTGGTTGAGATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGACAT TAAGGATGATTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTG TGAAACGTCTACACGCTGGTTGAGATTAAGGATGATTGTGAAACGTCGAC ACGCTGGTTGACATTAAGGATGATTGTGAAACCTCGACACA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02615.hp2 NA19240.hp1 HG02258.hp1 HG02615.hp2 NA19240.hp1	a0005 a0007 a0005 a0007	a0005c0008 a0007c0009 a0005c0008 a0007c0009	a0005c0008t0003 a0007c0009t0003 a0007c0009t0020 a0005c0008t0003 a0007c0009t0003 a0007c0009t0020	a0005c0008t0003g0221 a0007c0009t0003g0220 a0007c0009t0020g0222 a0005c0008t0003g0221 a0007c0009t0003g0220 a0007c0009t0020g0222	3	271	0.0111	190	c.179 others(209): Show c.1792-1638_1792-1637insGATTAAGGATGATTGTGAAACGTCGA CACGCTGGTTGACATTAAGGATGATTGTGAAACGTCGACACGCTGGTTGA CATTAAGGATGATTGTGAAACGTCTACACGCTGGTTGAGATTAAGGATGA TTGTGAAACGTCGACACGCTGGTTGACATTAAGGATGATTGTGAAACCTC GACACACTGGTTGA	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
EHMT1_chr9_137614005_137841127	137819273	C C	CTTAGGGG others(183): Show CTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCC ATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCC GACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGAT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0100 a0001c0004t0001g0100	1	150	0.0067	190	c.354 others(209): Show c.3540+1136_3540+1137insTAGGGGCGCCGTGTACCGAGACTGTA GAGAGGCCGATTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACT GAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGT GTACCGAGACTGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTG TAGAGAGGCCGATT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819387	C C	CTTAGGGG others(183): Show CTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCC GTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCC GACTTAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0120 a0001c0004t0001g0120	1	148	0.0068	190	c.354 others(209): Show c.3540+1250_3540+1251insTAGGGGCGCCGTGTACCGAGACTGTA GAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACT GAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGT GTACCGAGACTGTAGAGAGGCCGACTTAGGGGCGCCGTGTACCGAGACTG TAGAGAGGCCGATT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819389	G G	GAGGGGCG others(183): Show GAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGACTTAGGGGCGCCGT GTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCG TAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGA TTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGACTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0083 a0001c0004t0001g0083	1	124	0.0081	190	c.354 others(209): Show c.3540+1272_3540+1273insTGTAGAGAGGCCGACTTAGGGGCGCC GTGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCC GATTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGACTTAGGGGCG CCGTGTACCGAGAC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EHMT1_chr9_137614005_137841127	137819501	C C	CTGAGGGG others(183): Show CTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCC GTGTACCGAGACCGTAGAGAGGCTGAGGGGGGGGCGCCGTGTACCGAGAC CGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACTGTAGAGAGGCC GATTGAGGGGCGCCATGTACCGAGACCGTAGAGAGGCCGAT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	150	0.0067	190	c.354 others(209): Show c.3540+1364_3540+1365insGAGGGGCGCCGTGTACCGAGACTGTA GAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCTGAGG GGGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGT GTACCGAGACTGTAGAGAGGCCGATTGAGGGGCGCCATGTACCGAGACCG TAGAGAGGCCGATT	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIPR1_chr2_3183970_3382818	3331480	T T	TACACCCA others(183): Show TACACCCATGAGATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAG ATGGTGTCAGCAGAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCA GAGGCAGGTGTGTATACACCCATGAGATGGTGTCAGCAGAGGCAGGCGTG TATACACCCATGAGATGGTGTCAGCAGAGGCAGGCGTGTGC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0132 a0001c0001t0002g0132	1	248	0.0040	190	c.259 others(207): Show c.259+6536_259+6537insGCACACGCCTGCCTCTGCTGACACCATC TCATGGGTGTATACACGCCTGCCTCTGCTGACACCATCTCATGGGTGTAT ACACACCTGCCTCTGCTGACACCATCTCATGGGTGTATACACACCTGCCT CTGCTGACACCATCTCATGGGTGTATACACACCTGCCTCTGCTGACACCA TCTCATGGGTGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELF2_chr4_139052265_139182218	139151032	A A	AAAAAAAA others(183): Show AAAAAAAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0211 a0001c0001t0002g0211	1	99	0.0101	190	c.-25 others(211): Show c.-251-11536_-251-11535insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCTTTCTTTTTTTT	ELF2	ENSG00000109381.21	transcript	ENST00000686138.1	protein_coding	1/9			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110083967	G G	GATATAAC others(183): Show GATATAACATATGCTATATATCATATATATGATATATAACATATGTTATA TATGATATATAGCATATGTTATATATGATATATAGCATATGTTATATATG ATATATAACATATATATGATATATGATATATAACATATGTTATATATCAT ATATATGTTATATGTCATATATAACATATGCTATACACGAC	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03130.hp1 HG03139.hp1 others(2): Show HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0056 a0001c0001t0001 a0001c0001t0056	a0001c0001t0001g0044 a0001c0001t0001g0070 a0001c0001t0001g0071 others(2): Show a0001c0001t0001g0044 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0056g0109	5	60	0.0833	190	c.221 others(209): Show c.221+21529_221+21530insGTCGTGTATAGCATATGTTATATATG ACATATAACATATATATGATATATAACATATGTTATATATCATATATCAT ATATATGTTATATATCATATATAACATATGCTATATATCATATATAACAT ATGCTATATATCATATATAACATATGTTATATATCATATATATGATATAT AGCATATGTTATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELP5_chr17_7247215_7264937	7257617	T T	TTTTTTTT others(183): Show TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACA GGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTTA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0042 a0001c0004t0001g0042	1	409	0.0024	190	c.591 others(205): Show c.591+579_591+580insTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT TGTATTTTTA	ELP5	ENSG00000170291.16	transcript	ENST00000396628.7	protein_coding	5/7			chr17	TogoVar
ENTR1_chr9_136396922_136415614	136403322	G G	GGGGGGGA others(183): Show GGGGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCG GGGGAGAAAGGGACAGGGTTCCAGGGAGCAAGGGGTGGGGTTTGCCGGGG GAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCCGGGGGAG AAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTTGCC	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	244	0.0041	190	c.120 others(207): Show c.1209-436_1209-435insGGCAAAACCCCACCCCTTGCTCCCTGGG ACCCTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACC CTGTCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGAACCCTG TCCCTTTCTCCCCCGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGTCC CTTTCTCCCCCC	ENTR1	ENSG00000165689.17	transcript	ENST00000357365.8	protein_coding	9/9			chr9	TogoVar
ENTREP2_chr15_29115252_29575979	29529214	A A	AGGGCGTG others(183): Show AGGGCGTGGAGGGGTGTGTGAGGGTGTGGAGGGGTGGGGGCGTGGAGGGG TGTGGGGGGCGTGGAGGGATGTGGGGGGGCGTGGAGGGGTGTGGGAGGCG TGGAGGGGAGTGGGGGGGAGTGGAGGGGCATGTGGGGGAATGGGGGACGT GGGAGGCATGGAGGGGTGTGGGGGGGCGTGGAGGGGTGTGG	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0039 a0003c0006t0039	a0003c0006t0039g0105 a0003c0006t0039g0105	1	5	0.2000	190	c.219 others(209): Show c.219+41290_219+41291insCCACACCCCTCCACGCCCCCCCACAC CCCTCCATGCCTCCCACGTCCCCCATTCCCCCACATGCCCCTCCACTCCC CCCCACTCCCCTCCACGCCTCCCACACCCCTCCACGCCCCCCCACATCCC TCCACGCCCCCCACACCCCTCCACGCCCCCACCCCTCCACACCCTCACAC ACCCCTCCACGCCC	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29529214	A A	AGGGCGTG others(183): Show AGGGCGTGGAGGGGTGTGTGAGGGTGTGGAGGGGTGGGGGCGTGGAGGGG TGTGGGGGGCGTGGAGGGATGTGGGGGGGCGTGGAGGGGTGTGGGAGGCG TGGAGGGGAGTGGGGGGGAGTGGAGGGGCATGTGGGGGCATGGGGGACGT GGGAGGCATGGAGGGGTGTGGGGGGGCGTGGAGGGGTGTGG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00423.hp1 others(103): Show HG00099.hp1 HG00099.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp1 HG01891.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG03834.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18955.hp1 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA19065.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0002 a0001c0008 others(34): Show a0001c0001 a0001c0002 a0001c0008 a0001c0010 a0001c0011 a0001c0019 a0001c0024 a0001c0039 a0002c0003 a0002c0004 a0002c0005 a0002c0009 a0002c0012 a0002c0015 a0002c0021 a0002c0031 a0003c0006 a0003c0007 a0003c0014 a0003c0030 a0003c0034 a0004c0013 a0004c0017 a0004c0020 a0004c0027 a0004c0032 a0005c0016 a0005c0018 a0005c0035 a0005c0038 a0006c0029 a0006c0033 a0007c0022 a0007c0028 a0008c0040 a0009c0026 a0010c0036	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(67): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0045 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0016 a0001c0002t0043 a0001c0008t0007 a0001c0010t0001 a0001c0010t0004 a0001c0010t0025 a0001c0011t0010 a0001c0011t0031 a0001c0019t0001 a0001c0024t0010 a0001c0039t0038 a0002c0003t0005 a0002c0003t0013 a0002c0003t0021 a0002c0003t0023 a0002c0003t0030 a0002c0003t0032 a0002c0003t0034 a0002c0003t0035 a0002c0004t0003 a0002c0004t0015 a0002c0004t0037 a0002c0004t0048 a0002c0005t0003 a0002c0005t0005 a0002c0005t0011 a0002c0005t0026 a0002c0009t0003 a0002c0012t0009 a0002c0015t0005 a0002c0015t0012 a0002c0015t0044 a0002c0021t0003 a0002c0031t0040 a0003c0006t0001 a0003c0006t0002 a0003c0006t0046 a0003c0007t0002 a0003c0007t0042 a0003c0007t0050 a0003c0014t0002 a0003c0014t0051 a0003c0030t0047 a0003c0034t0002 a0004c0013t0001 a0004c0013t0024 a0004c0017t0008 a0004c0017t0014 a0004c0020t0008 a0004c0020t0033 a0004c0027t0008 a0004c0032t0014 a0005c0016t0006 a0005c0018t0006 a0005c0035t0019 a0005c0038t0006 a0006c0029t0029 a0006c0033t0049 a0007c0022t0017 a0007c0028t0017 a0008c0040t0012 a0009c0026t0001 a0010c0036t0041	a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0056 others(103): Show a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0068 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0102 a0001c0001t0001g0112 a0001c0001t0002g0060 a0001c0001t0002g0099 a0001c0001t0004g0018 a0001c0001t0004g0023 a0001c0001t0004g0027 a0001c0001t0045g0034 a0001c0002t0001g0036 a0001c0002t0001g0041 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0075 a0001c0002t0001g0082 a0001c0002t0002g0040 a0001c0002t0004g0002 a0001c0002t0016g0009 a0001c0002t0016g0021 a0001c0002t0043g0113 a0001c0008t0007g0039 a0001c0008t0007g0065 a0001c0008t0007g0115 a0001c0010t0001g0073 a0001c0010t0001g0088 a0001c0010t0004g0005 a0001c0010t0025g0001 a0001c0011t0010g0053 a0001c0011t0010g0116 a0001c0011t0031g0035 a0001c0019t0001g0033 a0001c0019t0001g0058 a0001c0024t0010g0062 a0001c0039t0038g0049 a0002c0003t0005g0063 a0002c0003t0013g0010 a0002c0003t0021g0028 a0002c0003t0023g0030 a0002c0003t0030g0097 a0002c0003t0032g0109 a0002c0003t0034g0059 a0002c0003t0035g0104 a0002c0004t0003g0048 a0002c0004t0003g0052 a0002c0004t0003g0111 a0002c0004t0003g0119 a0002c0004t0015g0012 a0002c0004t0037g0066 a0002c0004t0048g0122 a0002c0005t0003g0076 a0002c0005t0005g0057 a0002c0005t0005g0095 a0002c0005t0005g0100 a0002c0005t0011g0015 a0002c0005t0011g0020 a0002c0005t0026g0019 a0002c0009t0003g0044 a0002c0009t0003g0050 a0002c0009t0003g0077 a0002c0012t0009g0061 a0002c0015t0005g0070 a0002c0015t0012g0013 a0002c0015t0044g0083 a0002c0021t0003g0085 a0002c0021t0003g0086 a0002c0031t0040g0080 a0003c0006t0001g0108 a0003c0006t0002g0064 a0003c0006t0002g0081 a0003c0006t0046g0037 a0003c0007t0002g0074 a0003c0007t0002g0087 a0003c0007t0002g0094 a0003c0007t0002g0121 a0003c0007t0042g0038 a0003c0007t0050g0125 a0003c0014t0002g0067 a0003c0014t0002g0103 a0003c0014t0051g0124 a0003c0030t0047g0120 a0003c0034t0002g0046 a0004c0013t0001g0114 a0004c0013t0001g0118 a0004c0013t0024g0016 a0004c0017t0008g0024 a0004c0017t0014g0022 a0004c0020t0008g0014 a0004c0020t0033g0071 a0004c0027t0008g0025 a0004c0032t0014g0017 a0005c0016t0006g0032 a0005c0018t0006g0084 a0005c0035t0019g0011 a0005c0038t0006g0117 a0006c0029t0029g0093 a0006c0033t0049g0123 a0007c0022t0017g0043 a0007c0028t0017g0089 a0008c0040t0012g0026 a0009c0026t0001g0072 a0010c0036t0041g0051	106	110	0.9636	190	c.219 others(209): Show c.219+41290_219+41291insCCACACCCCTCCACGCCCCCCCACAC CCCTCCATGCCTCCCACGTCCCCCATGCCCCCACATGCCCCTCCACTCCC CCCCACTCCCCTCCACGCCTCCCACACCCCTCCACGCCCCCCCACATCCC TCCACGCCCCCCACACCCCTCCACGCCCCCACCCCTCCACACCCTCACAC ACCCCTCCACGCCC	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29529214	A A	AGGGCGTG others(183): Show AGGGCGTGGAGGGGTGTGTGAGGGTGTGGAGGGGTGGGGGCGTGGAGGGG TGTGGGGGGCGTGGAGGGATGTGGGGGGGCGTGGAGGGGTGTGGGAGGCG TGGAGGGGAGTGGGGGGGAGTGGAGGGGCATGTGGGGGCATGGGGGACGT GGGAGGTATGGAGGGGTGTGGGGGGGCGTGGAGGGGTGTGG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0003 a0001 a0003	a0001c0008 a0003c0006 a0001c0008 a0003c0006	a0001c0008t0007 a0003c0006t0002 a0001c0008t0007 a0003c0006t0002	a0001c0008t0007g0106 a0003c0006t0002g0107 a0001c0008t0007g0106 a0003c0006t0002g0107	2	6	0.3333	190	c.219 others(209): Show c.219+41290_219+41291insCCACACCCCTCCACGCCCCCCCACAC CCCTCCATACCTCCCACGTCCCCCATGCCCCCACATGCCCCTCCACTCCC CCCCACTCCCCTCCACGCCTCCCACACCCCTCCACGCCCCCCCACATCCC TCCACGCCCCCCACACCCCTCCACGCCCCCACCCCTCCACACCCTCACAC ACCCCTCCACGCCC	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29529214	A A	AGGGCGTG others(183): Show AGGGCGTGGAGGGGTGTGTGAGGGTGTGGAGGGGTGGGGGCGTGGAGGGG TGTGGGGGGCGTGGAGGGATGTGGGGGGGCGTGGAGGGGTGTGGGAGGCG TGGAGGGGAGTGGGGGGGAGTGGAGGGGCGTGTGGGGGCATGGGGGACGT GGGAGGCATGGAGGGGTGTGGGGGGGCGTGGAGGGGTGTGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG02809.hp1 others(1): Show HG02055.hp1 HG02258.hp2 HG02809.hp1 HG03130.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0008 a0002c0005 a0002c0009 others(1): Show a0001c0008 a0002c0005 a0002c0009 a0003c0023	a0001c0008t0036 a0002c0005t0020 a0002c0009t0015 others(1): Show a0001c0008t0036 a0002c0005t0020 a0002c0009t0015 a0003c0023t0022	a0001c0008t0036g0045 a0002c0005t0020g0006 a0002c0009t0015g0007 others(1): Show a0001c0008t0036g0045 a0002c0005t0020g0006 a0002c0009t0015g0007 a0003c0023t0022g0008	4	8	0.5000	190	c.219 others(209): Show c.219+41290_219+41291insCCACACCCCTCCACGCCCCCCCACAC CCCTCCATGCCTCCCACGTCCCCCATGCCCCCACACGCCCCTCCACTCCC CCCCACTCCCCTCCACGCCTCCCACACCCCTCCACGCCCCCCCACATCCC TCCACGCCCCCCACACCCCTCCACGCCCCCACCCCTCCACACCCTCACAC ACCCCTCCACGCCC	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29529214	A A	AGGGCGTG others(183): Show AGGGCGTGGAGGGGTGTGTGAGGGTGTGGAGGGGTGGGGGCGTGGAGGGG TGTGGGGGGCGTGGAGGGATGTGGGGGGGCGTGGAGGGGTGTGGGAGGCG TGGAGGGGAGTGGGGGGGAGTGGAGGGGCGTGTGGGGGCATGGGGGGCGT GGGAGGCATGGAGGGGTGTGGGGGGGCGTGGAGGGGTGTGG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02451.hp1 HG02965.hp2 HG01109.hp1 HG02451.hp1 HG02965.hp2	a0002 a0008 a0002 a0008	a0002c0004 a0002c0012 a0008c0025 a0002c0004 a0002c0012 a0008c0025	a0002c0004t0003 a0002c0012t0009 a0008c0025t0002 a0002c0004t0003 a0002c0012t0009 a0008c0025t0002	a0002c0004t0003g0101 a0002c0012t0009g0092 a0008c0025t0002g0090 a0002c0004t0003g0101 a0002c0012t0009g0092 a0008c0025t0002g0090	3	7	0.4286	190	c.219 others(209): Show c.219+41290_219+41291insCCACACCCCTCCACGCCCCCCCACAC CCCTCCATGCCTCCCACGCCCCCCATGCCCCCACACGCCCCTCCACTCCC CCCCACTCCCCTCCACGCCTCCCACACCCCTCCACGCCCCCCCACATCCC TCCACGCCCCCCACACCCCTCCACGCCCCCACCCCTCCACACCCTCACAC ACCCCTCCACGCCC	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ENTREP2_chr15_29115252_29575979	29529219	G G	GTGGAGGG others(183): Show GTGGAGGGGTGTGTGAGGGTGTGGAGGGGTGGGGGCGTGGAGGGGTGTGG GGGGCGTGGAGGGATGTGGGGGGGCGTGGAGGGGTGTGGGAGGCGTGGAG GGGAGTGGGGGGGAGTGGAGGGGCATGTGGGGGCATGGGGGACGTGGGAG GCATGGAGGGGTGTGGGGGGGCGTGGAGGGGTGTGGGGGCA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp1 HG02965.hp1 others(1): Show HG01891.hp2 HG02717.hp1 HG02965.hp1 NA18906.hp2	a0002 a0005 a0006 a0002 a0005 a0006	a0002c0003 a0005c0016 a0005c0018 others(1): Show a0002c0003 a0005c0016 a0005c0018 a0006c0037	a0002c0003t0013 a0005c0016t0006 a0005c0018t0006 others(1): Show a0002c0003t0013 a0005c0016t0006 a0005c0018t0006 a0006c0037t0018	a0002c0003t0013g0029 a0005c0016t0006g0079 a0005c0018t0006g0110 others(1): Show a0002c0003t0013g0029 a0005c0016t0006g0079 a0005c0018t0006g0110 a0006c0037t0018g0004	4	124	0.0323	190	c.219 others(209): Show c.219+41285_219+41286insTGCCCCCACACCCCTCCACGCCCCCC CACACCCCTCCATGCCTCCCACGTCCCCCATGCCCCCACATGCCCCTCCA CTCCCCCCCACTCCCCTCCACGCCTCCCACACCCCTCCACGCCCCCCCAC ATCCCTCCACGCCCCCCACACCCCTCCACGCCCCCACCCCTCCACACCCT CACACACCCCTCCA	ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding	1/10			chr15	TogoVar
ERICH1_chr8_659200_736224	700479	G G	GGCGCACA others(183): Show GGCGCACAGACCCGCACACGCGCACAGGCCCGCACACGCGCACAGGCCCG CACACGCGCACAGGCCCGCACAGGCGCACAGGCCCGCACACGCGCACAGG CCCGCACACGCGCACAGGCCCGCACAGGCGCACAGGCCCGCACACGCGCA CAGGCCCGCACACGCGCACAGGCCCGCACAGGCCCGCACAC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0325 a0003c0004t0002g0325	1	202	0.0050	190	c.170 others(207): Show c.170-7868_170-7867insGTGTGCGGGCCTGTGCGGGCCTGTGCGC GTGTGCGGGCCTGTGCGCGTGTGCGGGCCTGTGCGCCTGTGCGGGCCTGT GCGCGTGTGCGGGCCTGTGCGCGTGTGCGGGCCTGTGCGCCTGTGCGGGC CTGTGCGCGTGTGCGGGCCTGTGCGCGTGTGCGGGCCTGTGCGCGTGTGC GGGTCTGTGCGC	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH1_chr8_659200_736224	700480	G G	GCGCACAG others(183): Show GCGCACAGACCCGCACACGCGCACAGGCCCGCACAGGCGCACAGACCCGC ACACGCGCACAGGCCCGCACAGGCGCACAGGCCCGCACACGCGCACAGGC CCGCACAGGCGCACAGGCCCGCACACGCGCACAGGCCCGCACAGGCGCAC AGGCCCGCACACGCGCACAGGCCCGCACACGCGCACAGGCC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0351 a0001c0002t0002g0351	1	366	0.0027	190	c.170 others(207): Show c.170-7869_170-7868insGGCCTGTGCGCGTGTGCGGGCCTGTGCG CGTGTGCGGGCCTGTGCGCCTGTGCGGGCCTGTGCGCGTGTGCGGGCCTG TGCGCCTGTGCGGGCCTGTGCGCGTGTGCGGGCCTGTGCGCCTGTGCGGG CCTGTGCGCGTGTGCGGGTCTGTGCGCCTGTGCGGGCCTGTGCGCGTGTG CGGGTCTGTGCG	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
EXD3_chr9_137301896_137428162	137329456	T T	TACACAGG others(183): Show TACACAGGGTCACACGGGACTACACGGGACTACACGGGACTACACGGGGT CACACGGGACTACACGGGACTACACGGGACTACACGGGACTACACGGGGC TACACGGGACTACACGGGGTCACACGGGACTACACGGGACTACACGGGGT CACACGGGACTACACGGGACTACACGGGACTACACGGGGTC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0020 a0020	a0020c0032 a0020c0032	a0020c0032t0001 a0020c0032t0001	a0020c0032t0001g0054 a0020c0032t0001g0054	1	67	0.0149	190	c.199 others(209): Show c.1999-5314_1999-5313insGACCCCGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTGACCCC GTGTAGTCCCGTGTAGCCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCC GTGTAGTCCCGTGTGACCCCGTGTAGTCCCGTGTAGTCCCGTGTAGTCCC GTGTGACCCTGTGT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	17/21			chr9	TogoVar
EXD3_chr9_137301896_137428162	137355626	G G	GAAGGAGG others(183): Show GAAGGAGGAAGGAGGAAGGAGAAAGGGAGGATGGAGGAAGGAGAAAGGGA GGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGA GAAGAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGAGGAAG GAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0029 a0029	a0029c0029 a0029c0029	a0029c0029t0001 a0029c0029t0001	a0029c0029t0001g0024 a0029c0029t0001g0024	1	67	0.0149	190	c.757 others(205): Show c.757+641_757+642insTCCTCCTTCCTCCTTCCTCCTTCCTCCCTT TCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCTTCTCCTTCCTCCTTCCT CCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCC TTCCTCCTTCCTCCCTTTCTCCTTCCTCCATCCTCCCTTTCTCCTTCCTC CTTCCTCCTT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
EYA4_chr6_133236357_133537128	133410619	T T	TAGAACTA others(183): Show TAGAACTAAGGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTG GCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCT CCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCG	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	207	0.0048	190	c.83+ others(207): Show c.83+28192_83+28193insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAG TGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGAG AACTAAGGTCTT	EYA4	ENSG00000112319.21	transcript	ENST00000355286.12	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
F10_chr13_113117799_113154529	113151454	T T	TGAGCAGC others(183): Show TGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGATTCCG CCTGAGACTGAGGGAGAGAGAACCCAGGTGAGACCCTGAGGACTGTGAGC AGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGATTCCGCCTGA GAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0342 a0001c0001t0001g0342	1	364	0.0027	190	c.19 others(201): Show c.1937_*1938insGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATG GGAAAAGTGATTCCGCCTGAGACTGAGGGAGAGAGAACCCAGGTGAGACC CTGAGGACTGTGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAA AGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAG GACCGA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		1926		chr13	TogoVar
F10_chr13_113117799_113154529	113151454	T T	TGAGCAGC others(183): Show TGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGTGATTCCG CCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGAGAGC AGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGTGATTCCGCCTGA GAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGACCGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0293 a0001c0004t0001g0293	1	364	0.0027	190	c.19 others(201): Show c.1937_*1938insGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATG GGAAAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACC CTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAGA AGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAG GACCGA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		1926		chr13	TogoVar
F10_chr13_113117799_113154529	113151492	A A	AAAGTGAT others(183): Show AAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTG AGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGT GATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGAC CGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG01074.hp1 HG02523.hp2 others(1): Show HG00609.hp2 HG01074.hp1 HG02523.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0117 a0001c0001t0001g0167 a0001c0001t0001g0223 others(1): Show a0001c0001t0001g0117 a0001c0001t0001g0167 a0001c0001t0001g0223 a0001c0002t0001g0228	4	389	0.0103	190	c.19 others(201): Show c.1975_*1976insAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAAC AGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGT AAAGATGGGAAAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGG TGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGG TGGGAG	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		1964		chr13	TogoVar
F10_chr13_113117799_113154529	113151587	A A	AAAGTGAT others(183): Show AAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTG AGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGT GATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGAC CGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG02083.hp2 HG02602.hp1 others(4): Show HG01943.hp1 HG02083.hp2 HG02602.hp1 HG03017.hp1 HG03704.hp1 HG03942.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0114 a0001c0001t0001g0214 a0001c0002t0001g0031 others(4): Show a0001c0001t0001g0114 a0001c0001t0001g0214 a0001c0002t0001g0031 a0001c0002t0001g0136 a0001c0002t0001g0240 a0001c0002t0001g0247 a0001c0002t0001g0271	7	371	0.0189	190	c.20 others(201): Show c.2070_*2071insAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAAC AGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGC GAAGGTGGGAGAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGG TGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGG TGGGAG	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		2059		chr13	TogoVar
F10_chr13_113117799_113154529	113151587	A A	AAAGTGAT others(183): Show AAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTG AGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGT GATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGAC CGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0285 a0002c0003t0001g0285	1	365	0.0027	190	c.20 others(201): Show c.2070_*2071insAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAAC AGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGT AAAGATGGGAAAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGG TGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGG TGGGAG	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		2059		chr13	TogoVar
F10_chr13_113117799_113154529	113151644	A A	AGAGCAGC others(183): Show AGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGTGATTCCG CCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGATCCTGAGGACCGAGAGC AGCAGGAGGTCATGGTGGGGAGCAAAAACGGGAAAAGTGATTCCGCCTGA GACTGAGGGAGAGAGAACCCAGGTGAGACCCTGAGGACTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0332 a0001c0001t0001g0332	1	410	0.0024	190	c.21 others(201): Show c.2127_*2128insGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTG GGAGAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGATC CTGAGGACCGAGAGCAGCAGGAGGTCATGGTGGGGAGCAAAAACGGGAAA AGTGATTCCGCCTGAGACTGAGGGAGAGAGAACCCAGGTGAGACCCTGAG GACTGT	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		2116		chr13	TogoVar
F10_chr13_113117799_113154529	113151682	A A	AAAGTGAT others(183): Show AAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTG AGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAAAAGT GATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGAC CGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0349 a0001c0002t0001g0349	1	79	0.0127	190	c.21 others(201): Show c.2165_*2166insAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAAC AGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGC GAAGGTGGGAAAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGG TGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGG TGGGAG	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		2154		chr13	TogoVar
F10_chr13_113117799_113154529	113151682	A A	AAAGTGAT others(183): Show AAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTG AGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGT GATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGAC CGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02004.hp2 HG02273.hp1 HG02300.hp1 others(2): Show HG02004.hp2 HG02273.hp1 HG02300.hp1 HG02572.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0039 a0001c0001t0001g0203 a0001c0001t0001g0207 others(2): Show a0001c0001t0001g0039 a0001c0001t0001g0203 a0001c0001t0001g0207 a0001c0001t0001g0252 a0001c0002t0001g0038	5	83	0.0602	190	c.21 others(201): Show c.2165_*2166insAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAAC AGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGC GAAGGTGGGAGAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGG TGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGG TGGGAG	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		2154		chr13	TogoVar
F10_chr13_113117799_113154529	113151682	A A	AAAGTGAT others(183): Show AAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTG AGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGTAAAGATGGGAAAAGT GATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTGAGGAC CGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03225.hp2 HG03453.hp1 others(1): Show HG03098.hp2 HG03225.hp2 HG03453.hp1 HG03579.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0003c0005t0001	a0001c0001t0001g0113 a0001c0002t0001g0071 a0002c0003t0001g0023 others(1): Show a0001c0001t0001g0113 a0001c0002t0001g0071 a0002c0003t0001g0023 a0003c0005t0001g0366	4	82	0.0488	190	c.21 others(201): Show c.2165_*2166insAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAAC AGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGT AAAGATGGGAAAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGG TGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGG TGGGAG	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		2154		chr13	TogoVar
F10_chr13_113117799_113154529	113151727	C C	CCCTGAGG others(183): Show CCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGA GAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGACCCTG AGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGCGAAGGTGGGAGAAGT GATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGGTGAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 NA18959.hp1 NA18981.hp2 HG02451.hp2 NA18959.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0036 a0001c0002t0001g0057 a0001c0002t0001g0261 a0001c0001t0001g0036 a0001c0002t0001g0057 a0001c0002t0001g0261	3	367	0.0082	190	c.22 others(201): Show c.2210_*2211insCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGG GGAGCGAAGGTGGGAGAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAAC AGAGGTGAGACCCTGAGGACCGAGAGCAGCAGGAGGTCACGGTGGGGAGC GAAGGTGGGAGAAGTGATTCCGCCTGAGAGTGAGGGAGAGAGAACAGAGG TGAGAA	F10	ENSG00000126218.12	transcript	ENST00000375559.8	protein_coding		2199		chr13	TogoVar

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