Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
ADGRE5_chr19_14376444_14413723	14389147	G G	GAGAGGGA others(43): Show GAGAGGGAGAGGGAGAGGAAGGGGAAGAGGGAGAGGGGGAGAGGAAGGGG A	intron_variant intron_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	200	0.0050	50	c.190 others(65): Show c.190+340_190+341insGAGAGGAAGGGGAAGAGGGAGAGGGGGAGA GGAAGGGGAAGAGGGAGAGG		ADGRE5	ENSG00000123146.20	transcript	ENST00000242786.6	protein_coding	3/19					INFO_REALIGN_3_PRIME	chr19	TogoVar
ADGRG7_chr3_100604601_100700479	100605919	T T	TTTCTCTT others(43): Show TTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	333	0.0030	50	c.-39 others(61): Show c.-3938_-3937insTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCC		ADGRG7	ENSG00000144820.8	transcript	ENST00000273352.8	protein_coding					3681		chr3	TogoVar
ADK_chr10_74146221_74714290	74274732	G G	GTATATAT others(43): Show GTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	77	0.0130	50	c.195 others(69): Show c.195-39919_195-39918insTATATATATATATATATATATATATA TATATATATATATATATATATATA		ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr10	TogoVar
ADPRHL1_chr13_113394611_113458488	113414032	G G	GGGCCTGG others(43): Show GGGCCTGGAGGTCACTGTTCTGCCCAGTCAGTGGCTGTGCTGGGCTCACC C	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	260	0.0038	50	c.106 others(69): Show c.1062-5862_1062-5813dupGGGTGAGCCCAGCACAGCCACTGACT GGGCAGAACAGTGACCTCCAGGCC		ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7						chr13	TogoVar
ADRA1D_chr20_4215630_4254287	4231038	T T	TTCTTTCT others(43): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTC C	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA18989.hp2 HG02970.hp2 NA18989.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0164 a0002c0002t0001g0281 a0001c0001t0001g0164 a0002c0002t0001g0281	2	312	0.0064	50	c.111 others(69): Show c.1112-8909_1112-8908insGGAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGA		ADRA1D	ENSG00000171873.8	transcript	ENST00000379453.6	protein_coding	1/1						chr20	TogoVar
AFF2_chrX_148495617_149005663	148581508	G G	GTATACGT others(43): Show GTATACGTGTACACACATATATACGTATACGTGTACACACATATACACGT A	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0055 a0001c0002t0055	a0001c0002t0055g0079 a0001c0002t0055g0079	1	164	0.0061	50	c.48- others(67): Show c.48-70484_48-70483insGTACACACATATATACGTATACGTGTAC ACACATATACACGTATATACGT		AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20					INFO_REALIGN_3_PRIME	chrX	TogoVar
AFF2_chrX_148495617_149005663	148704354	A A	ATATATAT others(43): Show ATATATATGTGTGTATATATATATTTATATATATGTGTGTATATATATAT T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01891.hp1 HG02055.hp1 others(12): Show HG00639.hp1 HG01891.hp1 HG02055.hp1 HG02486.hp1 HG02615.hp1 HG02622.hp2 HG02717.hp1 HG02896.hp2 HG02965.hp1 HG02976.hp1 HG03579.hp1 NA18522.hp1 NA19043.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 others(9): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0001t0029 a0001c0001t0047 a0001c0001t0048 a0001c0002t0004 a0001c0002t0009 a0001c0002t0019 a0001c0002t0058 a0001c0003t0062	a0001c0001t0004g0111 a0001c0001t0005g0062 a0001c0001t0009g0112 others(12): Show a0001c0001t0004g0111 a0001c0001t0005g0062 a0001c0001t0009g0112 a0001c0001t0012g0154 a0001c0001t0012g0155 a0001c0001t0029g0153 a0001c0001t0047g0008 a0001c0001t0048g0007 a0001c0002t0004g0116 a0001c0002t0004g0134 a0001c0002t0009g0109 a0001c0002t0009g0125 a0001c0002t0019g0157 a0001c0002t0058g0110 a0001c0003t0062g0135	15	157	0.0955	50	c.104 others(71): Show c.1041+41593_1041+41594insGTGTGTATATATATATTTATATAT ATGTGTGTATATATATATTTATATAT		AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	3/20					INFO_REALIGN_3_PRIME	chrX	TogoVar
AFG3L2_chr18_12323944_12382227	12362724	C C	CTGACATG others(43): Show CTGACATGGGCCGCTGGGCTATTTCTCATTTTTTGCTACGTATAGACAAT G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02622.hp1 HG02809.hp1 others(8): Show HG02572.hp1 HG02622.hp1 HG02809.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp1 HG03471.hp1 NA18522.hp2 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 others(1): Show a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 a0001c0003t0004	a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0067 others(8): Show a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0095 a0001c0002t0002g0062 a0001c0003t0001g0317 a0001c0003t0004g0057 a0001c0003t0004g0058 a0001c0003t0004g0060 a0001c0003t0004g0061 a0001c0003t0004g0064	11	374	0.0294	50	c.627 others(67): Show c.627+1008_627+1057dupCATTGTCTATACGTAGCAAAAAATGAGA AATAGCCCAGCGGCCCATGTCA		AFG3L2	ENSG00000141385.12	transcript	ENST00000269143.8	protein_coding	6/16						chr18	TogoVar
AGAP1_chr2_235489043_236136793	235536156	C C	CACACACA others(43): Show CACACACACACACACACACAGCAGGACCCTGGGGTTTGTGTGTGGCATCC T	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03579.hp1 HG02135.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0026 a0001c0002t0034 a0001c0001t0026 a0001c0002t0034	a0001c0001t0026g0095 a0001c0002t0034g0084 a0001c0001t0026g0095 a0001c0002t0034g0084	2	88	0.0227	50	c.163 others(69): Show c.163+41326_163+41327insGCAGGACCCTGGGGTTTGTGTGTGGC ATCCTACACACACACACACACACA		AGAP1	ENSG00000157985.20	transcript	ENST00000304032.13	protein_coding	1/17					INFO_REALIGN_3_PRIME	chr2	TogoVar
AGBL1_chr15_86074871_86921156	86286735	G G	GTGTATAT others(43): Show GTGTATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02976.hp1 HG02145.hp2 HG02976.hp1	a0001 a0009 a0001 a0009	a0001c0002 a0009c0039 a0001c0002 a0009c0039	a0001c0002t0016 a0009c0039t0023 a0001c0002t0016 a0009c0039t0023	a0001c0002t0016g0001 a0009c0039t0023g0020 a0001c0002t0016g0001 a0009c0039t0023g0020	2	73	0.0274	50	c.222 others(69): Show c.2220+6953_2220+6954insGTATATATATATATATATATATATAT ATATATATATATATATATATATAT		AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	16/22					INFO_REALIGN_3_PRIME	chr15	TogoVar
AGGF1_chr5_77025404_77070234	77043482	A A	AGGGCTGA others(43): Show AGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGG G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01978.hp2 HG02056.hp2 others(4): Show HG01261.hp2 HG01978.hp2 HG02056.hp2 HG02135.hp2 NA18965.hp1 NA18985.hp2 NA19001.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0005 a0002c0003t0002 a0001c0002t0005 a0002c0003t0002	a0001c0002t0005g0302 a0002c0003t0002g0044 a0002c0003t0002g0051 others(4): Show a0001c0002t0005g0302 a0002c0003t0002g0044 a0002c0003t0002g0051 a0002c0003t0002g0052 a0002c0003t0002g0075 a0002c0003t0002g0082 a0002c0003t0002g0084	7	377	0.0186	50	c.871 others(67): Show c.871-2851_871-2850insCACCTCCCTCCCGGACGGGGCGGCTGGC CAGGCGGGGGGCTGACCCCCCC		AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr5	TogoVar
AGGF1_chr5_77025404_77070234	77043538	A A	ACCCCCCC others(43): Show ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA C	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0218 a0006c0009t0001g0218	1	427	0.0023	50	c.871 others(67): Show c.871-2785_871-2784insGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCCACCTCCCTCCCGGACGG		AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr5	TogoVar
AGGF1_chr5_77025404_77070234	77043538	A A	ACCCCCCC others(43): Show ACCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA C	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA19078.hp2 HG01192.hp2 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0226 a0001c0002t0003g0264 a0001c0002t0003g0226 a0001c0002t0003g0264	2	428	0.0047	50	c.871 others(67): Show c.871-2792_871-2791insTGGACGGGGCGGCTGGCCGGGCGGGGGG CTGACCCCCCCCACCTCCCTCC		AGGF1	ENSG00000164252.13	transcript	ENST00000312916.12	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr5	TogoVar
AGMO_chr7_15195317_15567015	15530511	A A	ATATATAT others(43): Show ATATATATTCTATATACGTATTTCTATATATATATTCCATATACGTATTT C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0011 a0011	a0011c0023 a0011c0023	a0011c0023t0007 a0011c0023t0007	a0011c0023t0007g0227 a0011c0023t0007g0227	1	167	0.0060	50	c.409 others(69): Show c.409+14260_409+14261insGAAATACGTATATGGAATATATATAT AGAAATACGTATATAGAATATATA		AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12						chr7	TogoVar
AGR3_chr7_16854412_16886983	16880470	C C	CTCCCCTC others(43): Show CTCCCCTCCTTTCCCCTCCTTTCCCCTCCTTTCCCCTCCTTTCCCCTCCT T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	174	0.0057	50	c.-28 others(67): Show c.-28+1473_-28+1474insAAGGAGGGGAAAGGAGGGGAAAGGAGGG GAAAGGAGGGGAAAGGAGGGGA		AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding	1/7						chr7	TogoVar
AGTR1_chr3_148692903_148748003	148745773	A A	ATATTTTA others(43): Show ATATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATTTTATT T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01099.hp2 HG01433.hp1 others(9): Show HG00639.hp1 HG01099.hp2 HG01433.hp1 HG02300.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02895.hp1 HG03239.hp1 HG03540.hp1 HG03942.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0016 a0001c0003t0002	a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0055 others(9): Show a0001c0001t0001g0043 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0161 a0001c0001t0001g0185 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0002t0001g0064 a0001c0002t0016g0226 a0001c0003t0002g0199 a0001c0003t0002g0223	12	55	0.2182	50	c.36 others(61): Show c.3658_*3659insTATTTTATTTTATTTTATTTTATTTTATTTTATT TTATTTTATTTTATTT		AGTR1	ENSG00000144891.19	transcript	ENST00000349243.8	protein_coding					2771		chr3	TogoVar
AHCYL2_chr7_129220030_129435211	129365628	G G	GTATATAT others(43): Show GTATATATATATATATATATATATATATATATATATATATATATATATAT A	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18994.hp1 NA18989.hp2 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0019 a0001c0001t0002g0110 a0001c0001t0001g0019 a0001c0001t0002g0110	2	145	0.0138	50	c.364 others(69): Show c.364-13993_364-13992insATATATATATATATATATATATATAT ATATATATATATATATATATATAT		AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr7	TogoVar
AHCYL2_chr7_129220030_129435211	129365640	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATATATATGG G	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	290	0.0034	50	c.364 others(69): Show c.364-13993_364-13992insATATATATATATATATATATATATAT ATATATATATATATATGGGTATAT		AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16					INFO_REALIGN_3_PRIME	chr7	TogoVar
AHRR_chr5_316714_443285	344505	T T	TGTGTGTG others(43): Show TGTGTGTGTGTGTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTGTGTGTG G	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02698.hp1 NA18747.hp2 others(1): Show HG01978.hp2 HG02698.hp1 NA18747.hp2 NA18971.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0002c0002t0026 a0001c0001t0003 a0002c0002t0001 a0002c0002t0026	a0001c0001t0003g0213 a0002c0002t0001g0167 a0002c0002t0001g0190 others(1): Show a0001c0001t0003g0213 a0002c0002t0001g0167 a0002c0002t0001g0190 a0002c0002t0026g0119	4	198	0.0202	50	c.62+ others(63): Show c.62+552_62+553insTGAGGCTGTGTGTGCGCGGGGGGAGCTGTGTG TGTGTGGGTGTGTGTGTG		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391307	G G	GCGGGGCC others(43): Show GCGGGGCCAGAGCGTGCACGGGGGCAGGGCGAGGCGGGCGCAGGGCGAGG C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01109.hp1 HG01175.hp1 others(1): Show HG01081.hp1 HG01109.hp1 HG01175.hp1 HG01358.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0006 a0002c0002t0019 a0003c0004t0004 a0002c0002t0006 a0002c0002t0019 a0003c0004t0004	a0002c0002t0006g0007 a0002c0002t0019g0009 a0003c0004t0004g0003 others(1): Show a0002c0002t0006g0007 a0002c0002t0019g0009 a0003c0004t0004g0003 a0003c0004t0004g0014	4	252	0.0159	50	c.351 others(69): Show c.351+14591_351+14592insCGGGGCCAGAGCGTGCACGGGGGCAG GGCGAGGCGGGCGCAGGGCGAGGC		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10						chr5	TogoVar
AHRR_chr5_316714_443285	391308	T T	TGGGGCCA others(43): Show TGGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGAGGGCGCAGGGCGAGGC A	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02074.hp1 HG03710.hp2 HG02071.hp1 HG02074.hp1 HG03710.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0072 a0002c0002t0001g0095 a0002c0002t0001g0135 a0001c0001t0003g0072 a0002c0002t0001g0095 a0002c0002t0001g0135	3	101	0.0297	50	c.351 others(69): Show c.351+14595_351+14596insGCCAGAGCGTGCACGGGCGCAGGGCG AGGAGGGCGCAGGGCGAGGCAGGG		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	391308	T T	TGGGGCCA others(43): Show TGGGGCCAGAGCGTGCACGGGCGCAGGGCGAGGCAGGCGCAGGGCGAGGC A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0131 a0001c0001t0003g0131	1	99	0.0101	50	c.351 others(69): Show c.351+14595_351+14596insGCCAGAGCGTGCACGGGCGCAGGGCG AGGCAGGCGCAGGGCGAGGCAGGG		AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
AK3_chr9_4704556_4746202	4735294	T T	TATATATA others(43): Show TATATATATACATATATAAATATATATATACATATATAAATATATATATA A	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0349 a0001c0001t0001g0349	1	381	0.0026	50	c.151 others(67): Show c.151+5642_151+5643insTTATATATATATTTATATATGTATATAT ATATTTATATATGTATATATAT		AK3	ENSG00000147853.17	transcript	ENST00000381809.8	protein_coding	1/4						chr9	TogoVar
AK5_chr1_77277019_77564966	77367569	A A	ATATATAT others(43): Show ATATATATATATATATATATATATATATATATATATATATATTATATATG T	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	137	0.0073	50	c.891 others(69): Show c.891+27011_891+27012insTATATATATATATATATATATATATA TATATTATATATGTTATATATATA		AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13					INFO_REALIGN_3_PRIME	chr1	TogoVar
AK6_chr5_69345984_69374520	69372402	G G	GGAACATT others(43): Show GGAACATTGTCTAATAAATAGCTCAACTGTGGCTGAGTATTCTTGAAAGA A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	420	0.0024	50	c.-29 others(61): Show c.-2962_-2913dupTTCTTTCAAGAATACTCAGCCACAGTTGAGCTAT TTATTAGACAATGTTC		AK6	ENSG00000085231.14	transcript	ENST00000380822.9	protein_coding					2883		chr5	TogoVar
AK8_chr9_132720578_132883284	132821758	T T	TGTATATT others(43): Show TGTATATTTGTATGTATATACAAATATATACATATATGTGTATGTATATA C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	264	0.0038	50	c.889 others(67): Show c.889+1446_889+1447insGTATATACATACACATATATGTATATAT TTGTATATACATACAAATATAC		AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	9/12						chr9	TogoVar
AKAIN1_chr18_5137911_5202257	5192385	T T	TTTTCTTT others(43): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCTTTCTTT C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	101	0.0099	50	c.16+ others(65): Show c.16+4652_16+4653insGAAAGAAAGAAAGAAAGAAAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAA		AKAIN1	ENSG00000231824.4	transcript	ENST00000434239.4	protein_coding	1/1						chr18	TogoVar
AKAP6_chr14_32324298_32842684	32404691	G G	GATATATA others(43): Show GATATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0016 a0001c0001t0030g0016	1	13	0.0769	50	c.-34 others(69): Show c.-34-28749_-34-28748insATATATATATATATATATATATATAT ATATATATATATATATATATATAT		AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32510492	A A	ATATATAT others(43): Show ATATATATACACATATATATGTGTATATATATATATACATATATATATAT G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp2 HG02886.hp2 HG01891.hp1 HG02145.hp2 HG02886.hp2	a0001 a0009 a0010 a0001 a0009 a0010	a0001c0001 a0009c0047 a0010c0012 a0001c0001 a0009c0047 a0010c0012	a0001c0001t0020 a0009c0047t0003 a0010c0012t0040 a0001c0001t0020 a0009c0047t0003 a0010c0012t0040	a0001c0001t0020g0130 a0009c0047t0003g0031 a0010c0012t0040g0104 a0001c0001t0020g0130 a0009c0047t0003g0031 a0010c0012t0040g0104	3	92	0.0326	50	c.325 others(69): Show c.325-25054_325-25053insCACATATATATGTGTATATATATATA TACATATATATATATGTATATATA		AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32510492	A A	ATATATAT others(43): Show ATATATATACACATATATATGTGTGTATATATATATACATATATATATAT G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0007 a0007	a0007c0015 a0007c0015	a0007c0015t0018 a0007c0015t0018	a0007c0015t0018g0089 a0007c0015t0018g0089	1	90	0.0111	50	c.325 others(69): Show c.325-25054_325-25053insCACATATATATGTGTGTATATATATA TACATATATATATATGTATATATA		AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13					INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP7_chr6_131130467_131288532	131241627	G G	GTATATAT others(43): Show GTATATATACGTATATATATATATATGTGTGTGTGTGTGTGTATATATAT A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02074.hp2 HG02602.hp1 others(2): Show HG01109.hp2 HG02074.hp2 HG02602.hp1 HG02622.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003	a0002c0002t0001g0122 a0002c0002t0001g0177 a0002c0002t0002g0265 others(2): Show a0002c0002t0001g0122 a0002c0002t0001g0177 a0002c0002t0002g0265 a0002c0002t0003g0070 a0002c0002t0003g0120	5	116	0.0431	50	c.850 others(69): Show c.850+21827_850+21828insCGTATATATATATATATGTGTGTGTG TGTGTGTATATATATATATATATA		AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP7_chr6_131130467_131288532	131241627	G G	GTATATAT others(43): Show GTATATATACGTATATATATATATGTGTGTGTGTGTGTGTATATATATAT A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02717.hp2 HG03453.hp2 HG01891.hp1 HG02717.hp2 HG03453.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0097 a0005c0005t0005g0098 a0005c0005t0005g0099 a0005c0005t0005g0097 a0005c0005t0005g0098 a0005c0005t0005g0099	3	114	0.0263	50	c.850 others(69): Show c.850+21827_850+21828insCGTATATATATATATGTGTGTGTGTG TGTGTATATATATATATATATATA		AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP7_chr6_131130467_131288532	131241627	G G	GTGTGTGT others(43): Show GTGTGTGTGTATACGTATATATATGTGTGTGTGTGTGTGTGTGTGTGTAT A	intron_variant intron_variant	MODIFIER	HG01433.hp2 NA18971.hp1 NA19000.hp2 HG01433.hp2 NA18971.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0001 a0001c0001t0004 a0001c0001t0006	a0001c0001t0001g0012 a0001c0001t0004g0200 a0001c0001t0006g0293 a0001c0001t0001g0012 a0001c0001t0004g0200 a0001c0001t0006g0293	3	114	0.0263	50	c.850 others(69): Show c.850+21820_850+21821insGTGTGTGTATACGTATATATATGTGT GTGTGTGTGTGTGTGTGTGTATAT		AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
AKAP7_chr6_131130467_131288532	131241627	G G	GTGTGTGT others(43): Show GTGTGTGTGTGTATACGTATATATATGTGTGTGTGTGTGTGTGTGTGTGT A	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0282 a0001c0001t0007g0282	1	112	0.0089	50	c.850 others(69): Show c.850+21820_850+21821insGTGTGTGTGTATACGTATATATATGT GTGTGTGTGTGTGTGTGTGTGTAT		AKAP7	ENSG00000118507.19	transcript	ENST00000431975.7	protein_coding	7/7					INFO_REALIGN_3_PRIME	chr6	TogoVar
AKIRIN2_chr6_87669860_87707233	87674624	T T	TTATATAT others(43): Show TTATATATATATATATATATTTATAAATATATATATATATAAATATATAT A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0062 a0001c0002t0006g0062	1	393	0.0025	50	c.97 others(59): Show c.972_*973insTATATATATTTATATATATATATATTTATAAATATA TATATATATATATA		AKIRIN2	ENSG00000135334.9	transcript	ENST00000257787.6	protein_coding					235		chr6	TogoVar
AKR1B1_chr7_134437356_134464100	134451490	A A	AAGGGTAG others(43): Show AAGGGTAGATACGTATTGAGTGTGGACTTGGCTTTGGCTGATTGCACCAA C	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	444	0.0023	50	c.234 others(63): Show c.234+95_234+96insGTTGGTGCAATCAGCCAAAGCCAAGTCCACAC TCAATACGTATCTACCCT		AKR1B1	ENSG00000085662.14	transcript	ENST00000285930.9	protein_coding	2/9						chr7	TogoVar
AKT2_chr19_40225317_40290345	40248786	G G	GGAGGAGT others(43): Show GGAGGAGTGGAGGAGATGAGGACAGGGAGGAGTGGAGGAGATGAGGACAG A	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	358	0.0028	50	c.288 others(67): Show c.288-6149_288-6100dupTCTGTCCTCATCTCCTCCACTCCTCCCT GTCCTCATCTCCTCCACTCCTC		AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding	4/13						chr19	TogoVar
ALDH5A1_chr6_24489969_24542207	24541352	A A	AAAAAAAA others(43): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGAAAAGAGAGAGA T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0246 a0001c0001t0001g0246	1	366	0.0027	50	c.76 others(61): Show c.7640_*7641insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AGGAAAAGAGAGAGAT		ALDH5A1	ENSG00000112294.14	transcript	ENST00000357578.8	protein_coding					4146		chr6	TogoVar
ALLC_chr2_3653200_3707671	3690278	C C	CCTCTTCC others(43): Show CCTCTTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCC T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0002 a0002c0009t0002	a0002c0009t0002g0023 a0002c0009t0002g0023	1	251	0.0040	50	c.512 others(67): Show c.512-5438_512-5437insTCTTCCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCTCCCCCTC		ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3690359	C C	CTCCCCTC others(43): Show CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC T	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0157 a0002c0002t0002g0157	1	256	0.0039	50	c.512 others(67): Show c.512-5358_512-5357insTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCCCCCTCCCCT		ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11						chr2	TogoVar
ALLC_chr2_3653200_3707671	3690403	C C	CCCCCTCC others(43): Show CCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCCCCTCCCCTCCCCTCCCC T	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	264	0.0038	50	c.512 others(67): Show c.512-5305_512-5256dupCTCCCCTCCCCCTTCCCCTCCCCCCCTC CCCTCCCCTCCCCTCCCCTCCC		ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11					INFO_REALIGN_3_PRIME	chr2	TogoVar
ALOXE3_chr17_8090900_8123514	8097040	A A	AAATTCAG others(43): Show AAATTCAGTAACAAAGAGTAGGGACAGACTGTGCGTAGGAGCCAGCCAAC C	intron_variant intron_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0072 a0001c0002t0001g0072	1	420	0.0024	50	c.195 others(67): Show c.1957-235_1957-234insGGTTGGCTGGCTCCTACGCACAGTCTGT CCCTACTCTTTGTTACTGAATT		ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	15/15						chr17	TogoVar
ALPP_chr2_232373751_232387889	232380430	A A	ACGTGTAT others(43): Show ACGTGTATCTTTCTTAGTTGTGTTTGTCTGACCTTCTTTTTCTGCGTCGT C	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18522.hp2 NA18522.hp2	a0019 a0019	a0019c0033 a0019c0033	a0019c0033t0001 a0019c0033t0001	a0019c0033t0001g0026 a0019c0033t0001g0026	1	408	0.0025	50	c.803 others(57): Show c.803_804insCGTGTATCTTTCTTAGTTGTGTTTGTCTGACCTTCTTT TTCTGCGTCGTC	p.Trp others(5): Show p.Trp270fs	ALPP	ENSG00000163283.7	transcript	ENST00000392027.3	protein_coding	7/11	856/2754	804/1608	268/535			chr2	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAAATATA others(43): Show AAAATATATATATATATATATATATATATATATATATATATATATATATA T	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0099 a0002c0008t0001g0099	1	67	0.0149	50	c.-12 others(69): Show c.-121+8132_-121+8133insATATATATATATATATATATATATAT ATATATATATATATATATATATTT		AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17						chr11	TogoVar
ANAPC11_chr17_81886723_81905255	81904969	A A	AGAGAGCG others(43): Show AGAGAGCGCCCATGAGGCGGCTCCGAGGGGGAGGGCAGGGTAAGTCTAGC G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18975.hp1 NA19011.hp1 NA18975.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0003 a0001c0001t0001g0006	2	310	0.0065	50	c.49 others(61): Show c.4904_*4905insGAGAGCGCCCATGAGGCGGCTCCGAGGGGGAGGG CAGGGTAAGTCTAGCG		ANAPC11	ENSG00000141552.18	transcript	ENST00000344877.10	protein_coding					4715		chr17	TogoVar
ANAPC1_chr2_111762640_111889193	111764813	T T	TATATATA others(43): Show TATATATATATATATATATATATATATATATATATATACACACACACACA C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0306 a0001c0005t0006g0306	1	269	0.0037	50	c.44 others(61): Show c.4477_*4478insGTGTGTGTGTGTGTATATATATATATATATATAT ATATATATATATATAT		ANAPC1	ENSG00000153107.13	transcript	ENST00000341068.8	protein_coding					2826		chr2	TogoVar
ANGPT1_chr8_107244482_107502918	107368450	G G	GTATTCCT others(43): Show GTATTCCTTATACTTATTTATAAGTATATTCCTTATACTTATTTATAAGT A	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA18982.hp1 HG03654.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0021 a0001c0001t0011g0104 a0001c0001t0002g0021 a0001c0001t0011g0104	2	7	0.2857	50	c.298 others(69): Show c.298-21403_298-21354dupTACTTATAAATAAGTATAAGGAATAT ACTTATAAATAAGTATAAGGAATA		ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8						chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107370340	A A	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAGAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0180	1	85	0.0118	50	c.298 others(69): Show c.298-23244_298-23243insCTTTCTTTCTTTCTTTTTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT		ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8						chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107370340	A A	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAGAAAGAAA G	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01192.hp2 NA18951.hp1 HG01106.hp2 HG01192.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0204 a0001c0001t0001g0290 a0001c0001t0001g0188 a0001c0001t0001g0204 a0001c0001t0001g0290	3	87	0.0345	50	c.298 others(69): Show c.298-23244_298-23243insCTTTCTTTCTTTTTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT		ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8						chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107370340	A A	AAGAAAGA others(43): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAAAAGAAA G	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG03486.hp1 NA18952.hp1 others(2): Show HG02129.hp1 HG03486.hp1 NA18952.hp1 NA18990.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0025 a0001c0001t0001g0125 a0001c0001t0001g0171 others(2): Show a0001c0001t0001g0025 a0001c0001t0001g0125 a0001c0001t0001g0171 a0001c0001t0002g0124 a0001c0001t0005g0250	5	89	0.0562	50	c.298 others(69): Show c.298-23244_298-23243insCTTTCTTTTTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCT		ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8						chr8	TogoVar

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