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
RPH3AL_chr17_207389_357807	233824	GGGGAGCG others(180): Show GGGGAGCGGCTACTTCCCCTGACCAACTTCCCTGAGCAGGGAGCGGCTAC TTCCCCTGACCAACTTTCCCCCAAGCGGGGAGCGGCTACTTACCCTGACC AACTTCCCTGAGCAGGGAGCGGCTACTTACCCTGACCAACTTCCCCGAGC AGGGAGCGGCTACTTACCCTGACCAACTTCCCCGAGCA	G G	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA19043.hp1 HG02895.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0012 a0001c0001 a0002c0012	a0001c0001t0008 a0002c0012t0005 a0001c0001t0008 a0002c0012t0005	a0001c0001t0008g0113 a0002c0012t0005g0020 a0001c0001t0008g0113 a0002c0012t0005g0020	2	133	0.0150	-187	c.613 others(19): Show c.613+13100_613+13286del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	233839	CCCCTGAC others(180): Show CCCCTGACCAACTTCCCTGAGCAGGGAGCGGCTACTTCCCCTGACCAACT TTCCCCCAAGCGGGGAGCGGCTACTTACCCTGACCAACTTCCCTGAGCAG GGAGCGGCTACTTACCCTGACCAACTTCCCCGAGCAGGGAGCGGCTACTT ACCCTGACCAACTTCCCCGAGCAGGGAGCGGCTACTTA	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03540.hp1 HG02055.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0018 a0001c0001t0006 a0001c0003t0018	a0001c0001t0006g0072 a0001c0003t0018g0019 a0001c0001t0006g0072 a0001c0003t0018g0019	2	133	0.0150	-187	c.613 others(19): Show c.613+13085_613+13271del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	234122	AGGGAGCG others(180): Show AGGGAGCGGCTACTTACCCTGACCAACTTCCCTGAGCAGGGAGCGGCTAC TTACCCTGACCAACTTCCCTGAGCAGGGAGCGGCTACTTACCCTGACCAA CTTCCCTGAGCAGGGAGCGGCTACTTACCCTGACCAACTTCCCTGAGCAG GGAGCGGCTACTTACCCTGACCAACTTTCCCCCAAGCG	A A	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA19005.hp2 NA18995.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0004t0026 a0001c0001t0002 a0001c0004t0026	a0001c0001t0002g0029 a0001c0004t0026g0013 a0001c0001t0002g0029 a0001c0004t0026g0013	2	133	0.0150	-187	c.613 others(19): Show c.613+12802_613+12988del	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
SARDH_chr9_133658560_133743352	133668678	TCCCCTCA others(180): Show TCCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCT CCCCTTACCCTCCCCCTCCCTCTCCCTCACCTTCCCTCTCCCCTACCCTC CCTCTCCCTCACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCC CTCTCCCCTCACCCTCCCTCTCCCTCACCCTCCATCTC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0004 a0001c0033t0004	a0001c0033t0004g0029 a0001c0033t0004g0029	1	262	0.0038	-187	c.249 others(19): Show c.2495+1719_2496-1809del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SLC12A7_chr5_1045384_1117063	1072541	CATCACAC others(180): Show CATCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTT ATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACGGGCATCACA CTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCCCAGCACACTGGCATC ACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGT	C C	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0114 a0001c0009t0002g0114	1	118	0.0085	-187	c.224 others(18): Show c.2241+905_2241+1091del	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC16A9_chr10_59645764_59714850	59681399	GTATATAT others(180): Show GTATATATATATGTATATGTATATGTATATGTATATGATGTATATGTATA TGTGTATGTGTATGTGTATGTATATGTATATGTATATGTATATGTATATG TATATGTATATGATGTATATGTATATGTGTATGTGTATGTGTATGTATAT GTATATGTATATGATGTATATGTATATGTGTATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0186 a0001c0001t0012g0186	1	352	0.0028	-187	c.196 others(17): Show c.196+2510_196+2696del	SLC16A9	ENSG00000165449.12	transcript	ENST00000395348.8	protein_coding	2/5			chr10	TogoVar
SLC6A18_chr5_1220381_1251189	1238455	CCTCAGGA others(180): Show CCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGA CATCAGGTTTGGAGTGAGCCAGGGGCCTCAGGAAAGAGGTCAGGTTTGGA GTGAGCTTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCCAGGGGC CTCAGGAAAGAGGTCAGGTTTGGAGTGAGCCTGGAGGA	C C	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0315 a0001c0005t0002g0315	1	456	0.0022	-187	c.732 others(15): Show c.732+434_732+620del	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMYD3_chr1_245744347_246512279	246173065	AGGCCTAG others(180): Show AGGCCTAGAACACTCACTGTACTCTACTGTAGACTTTATCAACACTACAC ACTTAGGCTACACAGGCCTAGAACACTCACTGTTCTCTACTGCAGACTAT CCACACTGTACGCTTAGGCTACACAGGCCTAGAACACTCACTGTACTCTA CTGTAGACTTCATCAACACTACACACTTAGGCTACACC	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0113 a0002c0004t0001g0113	1	150	0.0067	-187	c.531 others(21): Show c.531+153949_531+154135del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246387839	GCATTCAT others(180): Show GCATTCATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGGGGACC TCCTTGTAGAAAGCATTCATTCTGGAAAATCACCTCGAGGTTGAAGTCAG TTTCTGGGGACATCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGA GGTTGAAGTCAGTTTCTAGGGGACCTCCTTGTAGAAAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01109.hp2 HG02004.hp1 HG00408.hp1 HG01109.hp2 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0011 a0001c0001t0001g0055 a0001c0001t0002g0030 a0001c0001t0001g0011 a0001c0001t0001g0055 a0001c0001t0002g0030	3	150	0.0200	-187	c.165 others(19): Show c.165-32932_165-32746del	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SRBD1_chr2_45383680_45616267	45414928	CACACAGT others(180): Show CACACAGTGTTATATAGTATGTACATACACACACATATAGTGTGTATATA GTATGTATATACACACATATAGTGTGTATATAGTATGTATATACACACAT ATAGTGTGTATATAGTATGTATATACACACATATAGTGTGTATATAGTAT GTATATACACACATATAGTGTGTATATAGTATGTATAT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01243.hp1 HG02630.hp1 others(6): Show HG00738.hp1 HG01243.hp1 HG02630.hp1 HG02818.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG03041.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0174 a0001c0001t0002g0129 a0001c0001t0002g0130 others(6): Show a0001c0001t0001g0174 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201	9	358	0.0251	-187	c.233 others(19): Show c.2334-1822_2334-1636del	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
STK38L_chr12_27239286_27330959	27240720	TTGTATAG others(180): Show TTGTATAGTTATATATATTACATATATGACTATGTATAGTTGTATAGTTA TATATATTACATATATGACTATGTATAGTTGTATAGTTATATATATTACA TATATCACTATGTATAGTTGTATAGTTATATATATTACATATATCACTAT GTATAGTTGTATAGTTATATATATTACATATATGACTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0306 a0001c0001t0001g0306	1	374	0.0027	-187	c.-36 others(11): Show c.-3623_-3437del	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3565		chr12	TogoVar
TUBGCP2_chr10_133273635_133313872	133292288	CCCCCATG others(180): Show CCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAG CATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCGTGTCCCCGT GTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTG TCCCCCATGTCCCTCCGTGTCCCCGTGTCCCTCCGTGT	C C	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02015.hp2 HG01978.hp2 HG02015.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0057 a0001c0002t0003g0058 a0001c0002t0003g0057 a0001c0002t0003g0058	2	284	0.0070	-187	c.121 others(16): Show c.1214+24_1214+210del	TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17			chr10	TogoVar
VPS45_chr1_150062776_150150329	150074955	CTTTTTTT others(180): Show CTTTTTTTTTTTTTTTTTTTTTTTTGAGACACAGTCTCCCTCTGTCACCC AGACAGAGTGCAGTGGCATGATCTCGGCTCACTGTAACCTCAACTTCCCA GGTTCAAGTGATGTTGCCCAGGCTGGTCTTGAACTCTTAGTACCATTTTC AAATAACCATTCAGCGTTCAAATTTAAAATTGTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02630.hp2 HG02723.hp2 others(7): Show HG01891.hp2 HG02630.hp2 HG02723.hp2 HG02809.hp1 HG02922.hp2 HG02976.hp1 HG03098.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 others(7): Show a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0002g0012 a0002c0002t0002g0013	10	176	0.0568	-187	c.290 others(17): Show c.290-1262_290-1076del	VPS45	ENSG00000136631.16	transcript	ENST00000644510.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZNF573_chr19_37733302_37784586	37751565	ATATATAC others(180): Show ATATATACTGTGTATATATACAGTATAGACAGCATATATACTGTGTATAT ATACAGTATAGACAGCATATATACTGTGTATATATACAGTATAGACAGCA TATATACTGTATATAGTACATAGTACCGTATATATACTGTATATAGTACA TAGTACCGTATATATACTGTATATAGTACATAGTACCG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01099.hp2 HG00741.hp1 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0239 a0001c0001t0001g0237 a0001c0001t0001g0239	2	350	0.0057	-187	c.296 others(19): Show c.296-11558_296-11372del	ZNF573	ENSG00000189144.15	transcript	ENST00000536220.7	protein_coding	4/4			chr19	TogoVar
ZNF708_chr19_21286160_21334410	21331163	CAAAAAAT others(180): Show CAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGT GAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(279): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp2 NA18952.hp1 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp1 NA18969.hp2 NA18972.hp1 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18991.hp1 NA18994.hp2 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19005.hp1 NA19006.hp1 NA19006.hp2 NA19009.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp2 NA19064.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp1 NA19077.hp2 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(12): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016	a0001c0001 a0003c0003 a0004c0004 others(14): Show a0001c0001 a0003c0003 a0004c0004 a0005c0006 a0005c0012 a0005c0013 a0006c0005 a0007c0007 a0008c0010 a0009c0011 a0010c0008 a0011c0009 a0012c0017 a0013c0016 a0014c0014 a0015c0018 a0016c0015	a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 others(28): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0023 a0003c0003t0003 a0003c0003t0005 a0003c0003t0018 a0003c0003t0019 a0003c0003t0020 a0003c0003t0021 a0004c0004t0004 a0005c0006t0007 a0005c0012t0003 a0005c0013t0007 a0006c0005t0006 a0007c0007t0003 a0008c0010t0001 a0009c0011t0001 a0010c0008t0001 a0011c0009t0011 a0012c0017t0001 a0013c0016t0001 a0014c0014t0022 a0015c0018t0001 a0016c0015t0001	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0017 others(258): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0009g0149 a0001c0001t0009g0150 a0001c0001t0009g0151 a0001c0001t0010g0021 a0001c0001t0010g0196 a0001c0001t0011g0143 a0001c0001t0012g0307 a0001c0001t0012g0308 a0001c0001t0012g0309 a0001c0001t0013g0096 a0001c0001t0013g0097 a0001c0001t0015g0242 a0001c0001t0016g0292 a0001c0001t0017g0262 a0001c0001t0023g0266 a0003c0003t0003g0005 a0003c0003t0003g0014 a0003c0003t0003g0015 a0003c0003t0003g0016 a0003c0003t0003g0104 a0003c0003t0003g0105 a0003c0003t0003g0107 a0003c0003t0003g0108 a0003c0003t0003g0110 a0003c0003t0003g0111 a0003c0003t0003g0112 a0003c0003t0003g0116 a0003c0003t0003g0117 a0003c0003t0003g0118 a0003c0003t0003g0119 a0003c0003t0003g0120 a0003c0003t0003g0121 a0003c0003t0003g0123 a0003c0003t0003g0124 a0003c0003t0003g0125 a0003c0003t0003g0126 a0003c0003t0003g0127 a0003c0003t0003g0128 a0003c0003t0003g0129 a0003c0003t0003g0131 a0003c0003t0003g0132 a0003c0003t0003g0133 a0003c0003t0003g0134 a0003c0003t0003g0135 a0003c0003t0003g0137 a0003c0003t0003g0138 a0003c0003t0003g0139 a0003c0003t0003g0140 a0003c0003t0003g0142 a0003c0003t0003g0204 a0003c0003t0003g0245 a0003c0003t0003g0293 a0003c0003t0005g0027 a0003c0003t0005g0303 a0003c0003t0005g0304 a0003c0003t0005g0305 a0003c0003t0005g0306 a0003c0003t0018g0136 a0003c0003t0019g0122 a0003c0003t0020g0115 a0003c0003t0021g0141 a0004c0004t0004g0008 a0004c0004t0004g0028 a0004c0004t0004g0029 a0004c0004t0004g0030 a0004c0004t0004g0031 a0004c0004t0004g0032 a0004c0004t0004g0033 a0004c0004t0004g0034 a0004c0004t0004g0035 a0004c0004t0004g0036 a0004c0004t0004g0037 a0004c0004t0004g0038 a0004c0004t0004g0039 a0004c0004t0004g0040 a0004c0004t0004g0041 a0004c0004t0004g0042 a0004c0004t0004g0043 a0004c0004t0004g0044 a0004c0004t0004g0045 a0004c0004t0004g0046 a0004c0004t0004g0047 a0004c0004t0004g0048 a0004c0004t0004g0049 a0004c0004t0004g0050 a0004c0004t0004g0051 a0004c0004t0004g0052 a0004c0004t0004g0053 a0004c0004t0004g0054 a0004c0004t0004g0055 a0005c0006t0007g0298 a0005c0006t0007g0299 a0005c0006t0007g0300 a0005c0006t0007g0301 a0005c0006t0007g0302 a0005c0012t0003g0106 a0005c0013t0007g0297 a0006c0005t0006g0098 a0006c0005t0006g0099 a0006c0005t0006g0100 a0006c0005t0006g0101 a0006c0005t0006g0102 a0006c0005t0006g0103 a0006c0005t0006g0168 a0007c0007t0003g0109 a0007c0007t0003g0113 a0007c0007t0003g0114 a0007c0007t0003g0130 a0008c0010t0001g0023 a0009c0011t0001g0263 a0009c0011t0001g0264 a0010c0008t0001g0212 a0010c0008t0001g0218 a0011c0009t0011g0144 a0011c0009t0011g0145 a0012c0017t0001g0239 a0013c0016t0001g0256 a0014c0014t0022g0056 a0015c0018t0001g0186 a0016c0015t0001g0154	282	346	0.8150	-187	c.-21 others(11): Show c.-2138_-1952del	ZNF708	ENSG00000182141.10	transcript	ENST00000356929.3	protein_coding		1754		chr19	TogoVar
ZNF888_chr19_52899415_52928428	52918991	CCTCTCCC others(180): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCCTCTCGCTCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp2 HG01891.hp2 HG02622.hp2	a0002 a0011 a0002 a0011	a0002c0026 a0011c0027 a0002c0026 a0011c0027	a0002c0026t0011 a0011c0027t0011 a0002c0026t0011 a0011c0027t0011	a0002c0026t0011g0129 a0011c0027t0011g0128 a0002c0026t0011g0129 a0011c0027t0011g0128	2	426	0.0047	-187	c.-17 others(16): Show c.-177-241_-177-55del	ZNF888	ENSG00000213793.6	transcript	ENST00000638862.2	protein_coding	1/4			chr19	TogoVar
ACAP3_chr1_1287391_1312930	1288276	CCCGAGTC others(179): Show CCCGAGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCCC TGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTG TCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0210 a0001c0001t0005g0210	1	295	0.0034	-186	c.51 others(11): Show c.5102_*5287del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		4114		chr1	TogoVar
ACAP3_chr1_1287391_1312930	1289617	CCGTGTCT others(179): Show CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTC CGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp2 NA19067.hp1 NA18964.hp2 NA19067.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0079 a0001c0002t0001g0080	2	295	0.0068	-186	c.37 others(11): Show c.3761_*3946del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2773		chr1	TogoVar
ADAM7_chr8_24436026_24514565	24464749	TGCCACCG others(179): Show TGCCACCGTGCCCAGCTAATTTTTGTATTTTTAGTAGAGGCGGGGTTTCA CCATGTTGGCCAGGATGGTCTCGATCTCTCCAGGCTGGAGCGCAGCGGCA CAATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCT GCCTCAGCCATCCAAGTAGCTGTGACTACAGGCGCAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(104): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp2 HG00438.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01069.hp1 HG01081.hp1 HG01109.hp1 HG01123.hp1 HG01192.hp1 HG01256.hp1 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02572.hp1 HG02630.hp2 HG02683.hp1 HG02698.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03669.hp1 HG03710.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18955.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18970.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18988.hp1 NA18989.hp2 NA18993.hp1 NA19001.hp1 NA19003.hp1 NA19054.hp1 NA19055.hp2 NA19060.hp2 NA19062.hp1 NA19065.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp2 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19087.hp2 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0013 a0014 a0015	a0001c0001 a0002c0002 a0002c0007 others(7): Show a0001c0001 a0002c0002 a0002c0007 a0002c0014 a0003c0004 a0004c0005 a0005c0006 a0013c0013 a0014c0015 a0015c0016	a0001c0001t0002 a0002c0002t0001 a0002c0002t0012 others(10): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0012 a0002c0002t0015 a0002c0007t0001 a0002c0014t0001 a0003c0004t0001 a0003c0004t0008 a0004c0005t0001 a0005c0006t0001 a0013c0013t0001 a0014c0015t0001 a0015c0016t0001	a0001c0001t0002g0095 a0002c0002t0001g0001 a0002c0002t0001g0012 others(92): Show a0001c0001t0002g0095 a0002c0002t0001g0001 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0018 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0083 a0002c0002t0001g0084 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0094 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0110 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0121 a0002c0002t0001g0124 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0139 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0209 a0002c0002t0012g0093 a0002c0002t0015g0138 a0002c0007t0001g0082 a0002c0007t0001g0109 a0002c0014t0001g0137 a0003c0004t0001g0011 a0003c0004t0001g0074 a0003c0004t0001g0143 a0003c0004t0001g0216 a0003c0004t0008g0125 a0004c0005t0001g0002 a0004c0005t0001g0017 a0004c0005t0001g0086 a0004c0005t0001g0092 a0004c0005t0001g0111 a0004c0005t0001g0115 a0004c0005t0001g0116 a0004c0005t0001g0129 a0005c0006t0001g0008 a0005c0006t0001g0037 a0005c0006t0001g0038 a0005c0006t0001g0039 a0005c0006t0001g0040 a0005c0006t0001g0041 a0005c0006t0001g0042 a0005c0006t0001g0043 a0005c0006t0001g0044 a0013c0013t0001g0122 a0014c0015t0001g0123 a0015c0016t0001g0017	107	360	0.2972	-186	c.312 others(15): Show c.312+868_313-686del	ADAM7	ENSG00000069206.15	transcript	ENST00000175238.10	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
ADARB2_chr10_1172313_1742525	1235944	TGAGTGGG others(179): Show TGAGTGGGCAGCTTGTGTGTGATTAAAAGGAGGAAAAGAGCTGTAGGAAG GCCTGGGCTCCGTCACCAGCACAGGTGGGAGTGGAGAACCGTGGCGAAAC GGCTTTCCTTCTGCATCCAGCCATGACCCAGGTGGGGCGGGAGAGTTCCC AGCCTCTCTGATGGTGAATGATTTGCCTGTTGCAAAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0043 a0002c0002t0002g0043	1	106	0.0094	-186	c.136 others(19): Show c.1362-2285_1362-2100del	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9			chr10	TogoVar
AHRR_chr5_316714_443285	356447	TGCAGTCA others(179): Show TGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCAC GGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAG GCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGC CCGCGAGTGGAGGCCCTCAGACACGGAGTCCACCCGG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0009 a0003c0004t0004g0009	1	268	0.0037	-186	c.244 others(17): Show c.244+2689_244+2874del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	356848	GGAGTGGA others(179): Show GGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGC	G G	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18983.hp1 NA18998.hp2 NA18950.hp2 NA18983.hp1 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0011 a0001c0001t0002 a0002c0002t0011	a0001c0001t0002g0063 a0002c0002t0011g0197 a0002c0002t0011g0213 a0001c0001t0002g0063 a0002c0002t0011g0197 a0002c0002t0011g0213	3	268	0.0112	-186	c.244 others(17): Show c.244+2999_244+3184del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	356910	CGAGTGGA others(179): Show CGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGG	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0009 a0004c0003t0009	a0004c0003t0009g0233 a0004c0003t0009g0233	1	268	0.0037	-186	c.244 others(17): Show c.244+3061_244+3246del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	356972	GGAGTGGA others(179): Show GGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(84): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00438.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00738.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02602.hp1 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02922.hp1 HG02965.hp2 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 NA18522.hp2 NA18747.hp1 NA18943.hp2 NA18946.hp1 NA18947.hp2 NA18951.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp1 NA18974.hp2 NA18975.hp1 NA18982.hp1 NA18998.hp1 NA19000.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp1 NA19012.hp1 NA19058.hp2 NA19060.hp1 NA19085.hp2 NA19091.hp1 NA20300.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0005 a0010 a0015	a0001c0001 a0001c0010 a0002c0002 others(7): Show a0001c0001 a0001c0010 a0002c0002 a0002c0011 a0002c0019 a0003c0004 a0004c0003 a0005c0005 a0010c0015 a0015c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0040 a0001c0001t0041 a0001c0001t0057 a0001c0001t0058 a0001c0001t0062 a0001c0001t0064 a0001c0010t0005 a0002c0002t0001 a0002c0002t0006 a0002c0002t0007 a0002c0002t0044 a0002c0002t0047 a0002c0002t0051 a0002c0011t0001 a0002c0019t0001 a0003c0004t0004 a0003c0004t0012 a0004c0003t0001 a0004c0003t0013 a0004c0003t0018 a0005c0005t0008 a0010c0015t0005 a0015c0021t0019	a0001c0001t0001g0018 a0001c0001t0002g0045 a0001c0001t0002g0058 others(84): Show a0001c0001t0001g0018 a0001c0001t0002g0045 a0001c0001t0002g0058 a0001c0001t0002g0074 a0001c0001t0002g0082 a0001c0001t0002g0099 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0127 a0001c0001t0002g0132 a0001c0001t0002g0137 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0003g0053 a0001c0001t0003g0064 a0001c0001t0003g0070 a0001c0001t0003g0071 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0087 a0001c0001t0003g0126 a0001c0001t0003g0129 a0001c0001t0003g0138 a0001c0001t0003g0162 a0001c0001t0005g0054 a0001c0001t0005g0068 a0001c0001t0005g0069 a0001c0001t0005g0088 a0001c0001t0005g0089 a0001c0001t0005g0090 a0001c0001t0005g0094 a0001c0001t0005g0112 a0001c0001t0006g0037 a0001c0001t0013g0148 a0001c0001t0013g0150 a0001c0001t0016g0065 a0001c0001t0016g0066 a0001c0001t0016g0113 a0001c0001t0018g0086 a0001c0001t0018g0106 a0001c0001t0040g0051 a0001c0001t0041g0078 a0001c0001t0057g0251 a0001c0001t0058g0133 a0001c0001t0062g0038 a0001c0001t0064g0128 a0001c0010t0005g0084 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0059 a0002c0002t0001g0067 a0002c0002t0001g0075 a0002c0002t0001g0080 a0002c0002t0001g0091 a0002c0002t0001g0101 a0002c0002t0001g0105 a0002c0002t0001g0107 a0002c0002t0001g0109 a0002c0002t0001g0116 a0002c0002t0001g0135 a0002c0002t0001g0151 a0002c0002t0006g0076 a0002c0002t0006g0079 a0002c0002t0006g0095 a0002c0002t0006g0218 a0002c0002t0007g0249 a0002c0002t0044g0046 a0002c0002t0047g0077 a0002c0002t0051g0097 a0002c0011t0001g0085 a0002c0019t0001g0134 a0003c0004t0004g0081 a0003c0004t0004g0093 a0003c0004t0012g0110 a0004c0003t0001g0083 a0004c0003t0013g0149 a0004c0003t0018g0098 a0005c0005t0008g0036 a0005c0005t0008g0049 a0005c0005t0008g0056 a0005c0005t0008g0057 a0005c0005t0008g0060 a0005c0005t0008g0061 a0005c0005t0008g0108 a0010c0015t0005g0115 a0015c0021t0019g0111	87	268	0.3246	-186	c.244 others(17): Show c.244+3123_244+3308del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	357361	TCACGGAG others(179): Show TCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGT GGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGA GCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGC GACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0219 a0001c0001t0007g0219	1	268	0.0037	-186	c.244 others(17): Show c.244+3481_244+3666del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	357392	AGGAAGAG others(179): Show AGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGC AGTCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGA GTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCC CTCAGACACGGAGTCCACCCGGGCAGTCAGCGACTGG	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG01256.hp2 others(4): Show HG00738.hp2 HG00741.hp2 HG01256.hp2 HG01258.hp1 HG01515.hp1 HG01517.hp1 HG02683.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0012 a0003c0004t0028 a0003c0004t0004 a0003c0004t0012 a0003c0004t0028	a0003c0004t0004g0002 a0003c0004t0004g0005 a0003c0004t0004g0011 others(2): Show a0003c0004t0004g0002 a0003c0004t0004g0005 a0003c0004t0004g0011 a0003c0004t0012g0001 a0003c0004t0028g0006	7	268	0.0261	-186	c.244 others(17): Show c.244+3495_244+3680del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	357406	CGAGTGGA others(179): Show CGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGACACGGAGT CCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGG	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01109.hp1 HG01243.hp2 others(2): Show HG01070.hp2 HG01109.hp1 HG01243.hp2 HG01358.hp1 HG04204.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0056 a0002c0002t0001 a0002c0002t0010 others(2): Show a0001c0001t0056 a0002c0002t0001 a0002c0002t0010 a0002c0002t0019 a0003c0004t0004	a0001c0001t0056g0177 a0002c0002t0001g0010 a0002c0002t0010g0015 others(2): Show a0001c0001t0056g0177 a0002c0002t0001g0010 a0002c0002t0010g0015 a0002c0002t0019g0007 a0003c0004t0004g0009	5	268	0.0187	-186	c.244 others(17): Show c.244+3557_244+3742del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	357604	CTCAGTCA others(179): Show CTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCG CGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGGG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCG	C C	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	268	0.0037	-186	c.244 others(17): Show c.244+3791_244+3976del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	358260	AGGAAGAG others(179): Show AGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGC AGTCAGCGACTGAGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGA GTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCC CTCAGACACGGAGTCCACCCGGGCAGTCAGCGACTGG	A A	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0201 a0002c0002t0001g0201	1	268	0.0037	-186	c.244 others(17): Show c.244+4363_244+4548del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	358646	CAAGTGGA others(179): Show CAAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGAG GAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGCAG TCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGT CCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGG	C C	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA19091.hp2 NA18947.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0042 a0001c0001t0003g0041 a0001c0001t0002g0042 a0001c0001t0003g0041	2	268	0.0075	-186	c.244 others(17): Show c.244+4736_244+4921del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10			chr5	TogoVar
AHRR_chr5_316714_443285	358756	AGGAAGAG others(179): Show AGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGC AGTCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGA GTCCACCCGGGCAGTCAGCGACTGGGGAAGAGCGCCCGGGAGTGGAGGCC CTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGG	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0047 a0002c0002t0047	a0002c0002t0047g0077 a0002c0002t0047g0077	1	268	0.0037	-186	c.244 others(17): Show c.244+4907_244+5092del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	358880	GGGAAGAG others(179): Show GGGAAGAGCGCCCGGGAGTGGAGGCCCTCAGTCACGGAGTCCACCCGGGC AGTCAGCGACTGGGGAAGAGCGCCCGCGAGTGGAGGCCCTCAGTCACGGA GTCCACCCGGGCAGTCAGCGACTGAGGAAGAGCGCCCGCGAGTGGAGGCC GTCAGTCACGGAGTCCACCCGGGCAGTCAGCGACTGA	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01169.hp1 HG00735.hp2 HG01081.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260	3	268	0.0112	-186	c.244 others(17): Show c.244+4983_244+5168del	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
ALDH1L1_chr3_126098570_126185586	126175200	ATAGATAA others(179): Show ATAGATAATCTGAATAGGCCTATACTGATTAAAGAACTGGAGCCAGTAGC CTTCCAAAATAGAAAGCACTAGGGTTAATGAATATGACTAAACATTTAAG AAAGAAATTATGCCAATTCTCTATGATCTCTTTCAAAAAATAGAAGTAGA GGAAATTCTCTAATTTTCTTGGGTCAGAATTACCCTG	A A	intron_variant intron_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0244 a0002c0002t0001g0244	1	338	0.0030	-186	c.-24 others(17): Show c.-24+5090_-24+5275del	ALDH1L1	ENSG00000144908.14	transcript	ENST00000393434.7	protein_coding	1/22			chr3	TogoVar
ANK2_chr4_113044653_113388736	113334516	ATAGAAAG others(179): Show ATAGAAAGTTAATAGATTAATTAATCTATTACTAGAAAGTTAATAGATTA ATTAATCTATTACTAGAAAGTTAATAGATTAATTAATCTATTACTAGAAA GTTAATAGATTAATTAATCTATTACTAGAAGGTTAATAGATTAATTAATC TATTACTAGAAAGTTAATAGATTAATTAATCTATTAC	A A	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01891.hp1 HG02055.hp2 others(26): Show HG00609.hp1 HG01891.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03098.hp2 HG03225.hp1 HG03453.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18980.hp1 NA19043.hp1 NA19240.hp2	a0002 a0003 a0015 others(1): Show a0002 a0003 a0015 a0017	a0002c0002 a0002c0003 a0002c0022 others(4): Show a0002c0002 a0002c0003 a0002c0022 a0002c0033 a0003c0024 a0015c0037 a0017c0028	a0002c0002t0001 a0002c0002t0004 a0002c0003t0001 others(5): Show a0002c0002t0001 a0002c0002t0004 a0002c0003t0001 a0002c0022t0001 a0002c0033t0001 a0003c0024t0001 a0015c0037t0001 a0017c0028t0001	a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0007 others(26): Show a0002c0002t0001g0002 a0002c0002t0001g0005 a0002c0002t0001g0007 a0002c0002t0001g0016 a0002c0002t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0033 a0002c0002t0001g0035 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0054 a0002c0002t0001g0075 a0002c0002t0001g0082 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0119 a0002c0002t0001g0125 a0002c0002t0001g0161 a0002c0002t0004g0156 a0002c0003t0001g0098 a0002c0003t0001g0104 a0002c0022t0001g0012 a0002c0033t0001g0017 a0003c0024t0001g0100 a0015c0037t0001g0006 a0017c0028t0001g0084	29	178	0.1629	-186	c.338 others(19): Show c.3380-1200_3380-1015del	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	29/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANKRD33B_chr5_10559070_10662816	10639079	CGGAGTTG others(179): Show CGGAGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGT TAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGCGTT GCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGG TGACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGT	C C	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0102 a0001c0001t0065g0102	1	324	0.0031	-186	c.637 others(16): Show c.637+933_637+1118del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639102	CGGTGACG others(179): Show CGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGC GGCGATGTTAGCGGGTGACGCGGCGTTGCGCGGCGATGTTAGGCGGTGAC GTGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATG TTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGCG	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	324	0.0031	-186	c.637 others(16): Show c.637+973_637+1158del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639195	CGGTGACG others(179): Show CGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGC GGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGAC GCGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATG TTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCG	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0287 a0001c0001t0006g0287	1	324	0.0031	-186	c.637 others(17): Show c.637+1035_637+1220del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639234	TGGGGTTG others(179): Show TGGGGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGT TAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGTGGGGTT GCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGG TGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGC	T T	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	324	0.0031	-186	c.637 others(17): Show c.637+1097_637+1282del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639505	GGGTGACG others(179): Show GGGTGACGCGGCGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGC GGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGTTAGCGGGTGAC GCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATG TTAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGC	G G	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	324	0.0031	-186	c.637 others(17): Show c.637+1348_637+1533del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639544	TGGAGTTG others(179): Show TGGAGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGCGATGT TAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGAGTT GCGCGGCGATGTTAGCGGGTGACGTGGGGTTGCGCGGCGATGTTAGGCGG TGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02809.hp1 HG02280.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0209 a0001c0001t0001g0032 a0001c0001t0001g0209	2	324	0.0062	-186	c.637 others(17): Show c.637+1398_637+1583del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639707	CGCGGCGA others(179): Show CGCGGCGATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGT GACGTGGGGTTGCGCGGCGATGTTAGGCGGTGACGCGGAGTTGCGCGGCG ATGTTAGCGGGTGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGG CGTTGCGCGGCGATGTTAGGCGGTGACGTGGAGTTGT	C C	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02965.hp1 HG02257.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0001 a0001c0011t0001 a0001c0001t0001 a0001c0011t0001	a0001c0001t0001g0306 a0001c0011t0001g0001 a0001c0001t0001g0306 a0001c0011t0001g0001	2	324	0.0062	-186	c.637 others(17): Show c.637+1562_637+1747del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
ANKRD33B_chr5_10559070_10662816	10639823	CGGAGTTG others(179): Show CGGAGTTGCGCGGCGATGTTAGCGGGTGACGCGGCGTTGCGCGGCGATGT TAGGCGGTGACGTGGAGTTGTGCGGCGATGTTAGCGGGTGACGTGGGGTT GCGCGGCGATGTTAGGCGGTGACGTGGAGTTGCGCGGTGATGTTAGCGGG TGACGCGGAGTTGCGCGGCGATGTTAGCGGGTGACGT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00597.hp1 HG00609.hp1 others(29): Show HG00280.hp1 HG00597.hp1 HG00609.hp1 HG00642.hp1 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01167.hp1 HG01169.hp1 HG02004.hp2 HG02027.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02273.hp1 HG02683.hp2 HG03491.hp1 HG04199.hp1 NA18612.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18954.hp1 NA18957.hp1 NA18998.hp1 NA19090.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0048 a0001c0004t0002 a0001c0004t0014 a0001c0006t0003 a0001c0006t0007 a0001c0007t0001	a0001c0001t0001g0027 a0001c0001t0001g0157 a0001c0001t0001g0160 others(29): Show a0001c0001t0001g0027 a0001c0001t0001g0157 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0178 a0001c0001t0001g0193 a0001c0001t0001g0230 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0272 a0001c0001t0001g0279 a0001c0001t0001g0302 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0004g0095 a0001c0001t0005g0182 a0001c0001t0005g0184 a0001c0001t0005g0241 a0001c0001t0005g0256 a0001c0001t0009g0201 a0001c0001t0009g0202 a0001c0001t0013g0033 a0001c0001t0013g0196 a0001c0001t0013g0197 a0001c0001t0013g0218 a0001c0001t0048g0117 a0001c0004t0002g0058 a0001c0004t0014g0109 a0001c0004t0014g0111 a0001c0006t0003g0132 a0001c0006t0007g0059 a0001c0007t0001g0161	32	324	0.0988	-186	c.637 others(17): Show c.637+1686_637+1871del	ANKRD33B	ENSG00000164236.12	transcript	ENST00000296657.7	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
APOA4_chr11_116815700_116828304	116818422	ATGAATAT others(179): Show ATGAATATATATGAATTTATATATGAATATATATATGAATATATATGAAT TTATATATGAATTATATATGAATATATATGAATATATATGAATATATATA TGAATTATATATGAATATATATGAATATATATATGAATTATATATGAATA TATATATGAATTATATATGAATATATATGTGTGTGTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 NA18969.hp2 HG04204.hp1 NA18969.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0008 a0001c0006t0001g0008	2	462	0.0043	-186	c.22 others(11): Show c.2259_*2444del	APOA4	ENSG00000110244.7	transcript	ENST00000357780.5	protein_coding		2277		chr11	TogoVar
ASAP1_chr8_130047104_130448674	130049309	GGGGGGCA others(179): Show GGGGGGCAGAGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAG AGGAGAACACATGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAAC ACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATACATGGGGG GCAGAGGAGAACACATGGGGGCAGAGGGGGAACACAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18982.hp1 NA18948.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0273 a0002c0002t0003g0275 a0002c0002t0003g0273 a0002c0002t0003g0275	2	308	0.0065	-186	c.52 others(11): Show c.5236_*5421del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2794		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049425	AGAACACA others(179): Show AGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACAT GGGGGCAGAGGGGGAACACATGGGGGCAGAGGGGAACACATGGAGGGCAG AGGGGAACACATGGGGGGCAGAGGAGAACACATGGGGGCAGAGGGGAATA CATGGGGGGCAGAGGGGAACACATGGAGGGCAGAGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0001 a0001c0007t0007g0001	1	308	0.0033	-186	c.51 others(11): Show c.5120_*5305del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2678		chr8	TogoVar
ASAP1_chr8_130047104_130448674	130049891	GGGCAGAG others(179): Show GGGCAGAGGGGAACACATGGAGGGCAGAGGGGAACACATGGGGGGCAGAG GAGAACACATGGGGGCAGAGGGGAATACATGGGGGGCAGAGGAGAACACA TGGGGGGCAGAGGGGAACACATGGGGGGCAGAGGGGAACACATGGGGGCA GAGGGGAATACATGGGGGGCAGAGGAGAACACATGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00673.hp1 HG01071.hp2 others(18): Show HG00544.hp2 HG00673.hp1 HG01071.hp2 HG02027.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp2 HG02083.hp2 HG02523.hp1 HG03239.hp2 HG03654.hp2 HG03704.hp2 HG03942.hp1 HG04204.hp1 HG04228.hp2 NA18940.hp1 NA18955.hp2 NA18975.hp2 NA19000.hp1 NA19003.hp2 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0015 a0002c0002t0016 others(1): Show a0002c0002t0003 a0002c0002t0015 a0002c0002t0016 a0002c0002t0020	a0002c0002t0003g0059 a0002c0002t0003g0065 a0002c0002t0003g0130 others(18): Show a0002c0002t0003g0059 a0002c0002t0003g0065 a0002c0002t0003g0130 a0002c0002t0003g0131 a0002c0002t0003g0135 a0002c0002t0003g0139 a0002c0002t0003g0140 a0002c0002t0003g0141 a0002c0002t0003g0246 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0003g0249 a0002c0002t0003g0251 a0002c0002t0003g0252 a0002c0002t0003g0259 a0002c0002t0003g0262 a0002c0002t0003g0284 a0002c0002t0015g0239 a0002c0002t0016g0132 a0002c0002t0020g0299 a0002c0002t0020g0300	21	308	0.0682	-186	c.46 others(11): Show c.4654_*4839del	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding		2212		chr8	TogoVar
ATP9B_chr18_79064394_79383283	79172277	GCGATCCG others(179): Show GCGATCCGCCTTGGCCTCCCAAGGTGCTGTGATTACAGGCGTAGCCACCG TGCCCCGCCCTTGCGATCCGCCTTGGCCTCCCAAGGTGCTGTGATTACAG GCGTAGCCACCGTGCCCCGCCCTTGCGATCCGCCTTGGCCTCCCAAGGTG CTGTGATTACAGGCGTAGCCACCGTGCCCCGCCCTTC	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG02615.hp1 HG01168.hp2 HG01169.hp2 HG02615.hp1	a0001 a0001	a0001c0004 a0001c0013 a0001c0004 a0001c0013	a0001c0004t0003 a0001c0013t0004 a0001c0004t0003 a0001c0013t0004	a0001c0004t0003g0092 a0001c0013t0004g0108 a0001c0013t0004g0111 a0001c0004t0003g0092 a0001c0013t0004g0108 a0001c0013t0004g0111	3	298	0.0101	-186	c.779 others(17): Show c.779-4494_779-4309del	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	7/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B3GNTL1_chr17_82937149_83056770	83003182	CCGCCCTC others(179): Show CCGCCCTCCGCGTGTGGGATTCCTGAGCCCGCCCTCCCACTCTCTGCAGT CCGCGTGTGGGATTCCTGAGCCCGCCCTCCCGCCCTCCGCGTGTGGGATT CCTGAGCCCGCCCTCCCGCCCTCCGCAGTCCGCGTGTGGGATTCCTGAGC CCGCCCTCCCGCCCTCCGCGTGTGGGATTCCTGAGCT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01516.hp1 HG03017.hp2 others(3): Show HG00741.hp2 HG01516.hp1 HG03017.hp2 NA18945.hp2 NA18960.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0001t0009 a0001c0003t0009 a0001c0001t0006 a0001c0001t0009 a0001c0003t0009	a0001c0001t0006g0153 a0001c0001t0006g0159 a0001c0001t0009g0231 others(3): Show a0001c0001t0006g0153 a0001c0001t0006g0159 a0001c0001t0009g0231 a0001c0001t0009g0232 a0001c0003t0009g0210 a0001c0003t0009g0220	6	266	0.0226	-186	c.459 others(17): Show c.459+1747_459+1932del	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BCL11A_chr2_60452194_60558654	60467357	GTGGTGAT others(179): Show GTGGTGATGGTGGTGATGATGGTGATGGTACTGGTGGTGATGGTGATGGT GATGGTACTGGTGATGGTGGTGGTGGTAGTGATGGTGGTGGTAATGGTGG TGGTGGTGATGGTGGTGGTAATGGTGGTGGTGGTGATGGTGGTGATGATG GTGATGGTACTGGTGGTGATGGTGATGGTGATGGTAC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0137 a0001c0001t0008g0137	1	262	0.0038	-186	c.487 others(17): Show c.487+1189_487+1374del	BCL11A	ENSG00000119866.22	transcript	ENST00000642384.2	protein_coding	3/3			chr2	TogoVar
BRSK2_chr11_1384934_1467689	1431440	GTCTGGTC others(179): Show GTCTGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTC TGGTCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGG TCAGGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGCGGTCTGGTCA GGTTTTGCCACTGTGCCCAGCAGTGAGCGTCTTCTGC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03017.hp2 HG00140.hp1 HG03017.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0011 a0002c0002t0008 a0001c0001t0011 a0002c0002t0008	a0001c0001t0011g0310 a0002c0002t0008g0167 a0001c0001t0011g0310 a0002c0002t0008g0167	2	360	0.0056	-186	c.92- others(15): Show c.92-4599_92-4414del	BRSK2	ENSG00000174672.16	transcript	ENST00000528841.6	protein_coding	1/19			chr11	TogoVar

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