Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ADAM17_chr2_9483486_9560830	9514518	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0085 a0001c0001t0021g0085	1	234	0.0043	-38	c.119 others(57): Show c.1191+3345_1191+3382delATATATATATATATATATATATATAT ATATATATATAT	ADAM17	ENSG00000151694.15	transcript	ENST00000310823.8	protein_coding	10/18			chr2	TogoVar
ADAMTS17_chr15_99966437_100346975	100313795	CCCCAAAC others(31): Show CCCCAAACGTCACCATGAAGAAACGTCAGACAAAACCAT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0012 a0002c0001t0012	a0002c0001t0012g0079 a0002c0001t0012g0079	1	228	0.0044	-38	c.616 others(57): Show c.616+17056_616+17093delATGGTTTTGTCTGACGTTTCTTCATG GTGACGTTTGGG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	3/21			chr15	TogoVar
ADAMTS17_chr15_99966437_100346975	100313833	TCCCAAAC others(31): Show TCCCAAACGTCACCATGAAGAAACGTCAGACAAAACCAC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(36): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00423.hp1 HG00609.hp2 HG00642.hp1 HG01099.hp1 HG01257.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp2 HG02055.hp2 HG02071.hp1 HG02083.hp2 HG02109.hp1 HG02523.hp1 HG02630.hp1 HG02647.hp1 HG02698.hp2 HG03017.hp1 HG03017.hp2 HG03195.hp1 HG03209.hp1 HG03239.hp1 HG03486.hp1 HG03540.hp1 HG03669.hp1 HG03704.hp1 HG03831.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18955.hp2 NA19043.hp1 NA19088.hp1 NA21309.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0010 a0013	a0001c0002 a0001c0005 a0001c0007 others(19): Show a0001c0002 a0001c0005 a0001c0007 a0001c0010 a0001c0047 a0002c0001 a0002c0004 a0002c0011 a0002c0022 a0002c0070 a0002c0071 a0003c0009 a0003c0015 a0003c0042 a0004c0003 a0004c0008 a0004c0031 a0004c0069 a0005c0032 a0006c0016 a0010c0063 a0013c0044	a0001c0002t0012 a0001c0005t0012 a0001c0007t0010 others(28): Show a0001c0002t0012 a0001c0005t0012 a0001c0007t0010 a0001c0010t0004 a0001c0047t0005 a0002c0001t0002 a0002c0001t0004 a0002c0001t0007 a0002c0001t0024 a0002c0001t0055 a0002c0004t0006 a0002c0004t0032 a0002c0011t0022 a0002c0011t0023 a0002c0011t0063 a0002c0022t0005 a0002c0070t0067 a0002c0071t0025 a0003c0009t0050 a0003c0015t0003 a0003c0042t0001 a0004c0003t0001 a0004c0003t0027 a0004c0008t0001 a0004c0008t0003 a0004c0031t0001 a0004c0069t0001 a0005c0032t0054 a0006c0016t0002 a0010c0063t0068 a0013c0044t0003	a0001c0002t0012g0106 a0001c0005t0012g0211 a0001c0007t0010g0011 others(36): Show a0001c0002t0012g0106 a0001c0005t0012g0211 a0001c0007t0010g0011 a0001c0010t0004g0095 a0001c0047t0005g0209 a0002c0001t0002g0174 a0002c0001t0004g0154 a0002c0001t0007g0094 a0002c0001t0024g0175 a0002c0001t0055g0087 a0002c0004t0006g0099 a0002c0004t0032g0039 a0002c0011t0022g0103 a0002c0011t0023g0207 a0002c0011t0063g0053 a0002c0022t0005g0097 a0002c0022t0005g0181 a0002c0070t0067g0164 a0002c0071t0025g0162 a0003c0009t0050g0086 a0003c0015t0003g0041 a0003c0042t0001g0102 a0004c0003t0001g0084 a0004c0003t0001g0093 a0004c0003t0001g0098 a0004c0003t0001g0101 a0004c0003t0001g0172 a0004c0003t0027g0034 a0004c0008t0001g0100 a0004c0008t0001g0114 a0004c0008t0001g0163 a0004c0008t0003g0024 a0004c0008t0003g0042 a0004c0031t0001g0070 a0004c0069t0001g0120 a0005c0032t0054g0060 a0006c0016t0002g0082 a0010c0063t0068g0055 a0013c0044t0003g0023	39	228	0.1711	-38	c.616 others(57): Show c.616+17018_616+17055delGTGGTTTTGTCTGACGTTTCTTCATG GTGACGTTTGGG	ADAMTS17	ENSG00000140470.15	transcript	ENST00000268070.9	protein_coding	3/21			chr15	TogoVar
ADAMTS19_chr5_129455298_129743683	129550024	ATATCTAG others(31): Show ATATCTAGATATACATATACATGTATCTGTATATGTATG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG02451.hp1 HG03098.hp2 others(3): Show HG01081.hp1 HG02451.hp1 HG03098.hp2 HG03491.hp1 HG03942.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0002 a0001c0001 a0001c0006 a0002c0002	a0001c0001t0002 a0001c0006t0001 a0002c0002t0003 a0001c0001t0002 a0001c0006t0001 a0002c0002t0003	a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 others(3): Show a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0185 a0001c0006t0001g0197 a0002c0002t0003g0065	6	226	0.0266	-38	c.132 others(57): Show c.1329-1394_1329-1357delGTATATGTATGTATCTAGATATACAT ATACATGTATCT	ADAMTS19	ENSG00000145808.10	transcript	ENST00000274487.9	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS2_chr5_179105853_179350461	179217840	AGGCACAC others(31): Show AGGCACACTCACTAGGTAGGGGATGGCCTGAGGGCAGAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01175.hp1 HG01243.hp1 others(36): Show HG00735.hp2 HG01175.hp1 HG01243.hp1 HG01433.hp1 HG01978.hp1 HG02109.hp1 HG02109.hp2 HG02165.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02809.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03209.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03540.hp2 HG03704.hp1 HG03710.hp2 HG04115.hp2 NA18522.hp1 NA18747.hp1 NA18747.hp2 NA18957.hp2 NA19074.hp2 NA19084.hp2 NA20129.hp1 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0006 a0007 a0009 a0010 a0012 a0013 a0032 a0036	a0001c0001 a0001c0004 a0001c0014 others(22): Show a0001c0001 a0001c0004 a0001c0014 a0001c0049 a0002c0002 a0002c0012 a0002c0017 a0002c0028 a0002c0029 a0002c0060 a0003c0003 a0003c0098 a0003c0105 a0003c0107 a0004c0006 a0006c0009 a0007c0005 a0009c0026 a0010c0036 a0010c0053 a0012c0054 a0013c0037 a0013c0080 a0032c0045 a0036c0081	a0001c0001t0001 a0001c0001t0004 a0001c0004t0002 others(26): Show a0001c0001t0001 a0001c0001t0004 a0001c0004t0002 a0001c0004t0004 a0001c0014t0008 a0001c0049t0004 a0002c0002t0001 a0002c0002t0004 a0002c0012t0007 a0002c0017t0001 a0002c0017t0004 a0002c0028t0002 a0002c0029t0014 a0002c0060t0001 a0003c0003t0001 a0003c0098t0004 a0003c0105t0012 a0003c0107t0011 a0004c0006t0004 a0006c0009t0003 a0007c0005t0003 a0009c0026t0003 a0010c0036t0007 a0010c0053t0007 a0012c0054t0001 a0013c0037t0001 a0013c0080t0012 a0032c0045t0003 a0036c0081t0028	a0001c0001t0001g0067 a0001c0001t0004g0111 a0001c0004t0002g0005 others(36): Show a0001c0001t0001g0067 a0001c0001t0004g0111 a0001c0004t0002g0005 a0001c0004t0002g0179 a0001c0004t0004g0187 a0001c0004t0004g0196 a0001c0014t0008g0065 a0001c0049t0004g0149 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0092 a0002c0002t0001g0113 a0002c0002t0001g0125 a0002c0002t0001g0133 a0002c0002t0004g0107 a0002c0012t0007g0120 a0002c0017t0001g0189 a0002c0017t0004g0158 a0002c0028t0002g0110 a0002c0029t0014g0020 a0002c0060t0001g0091 a0003c0003t0001g0232 a0003c0098t0004g0272 a0003c0105t0012g0209 a0003c0107t0011g0212 a0004c0006t0004g0228 a0004c0006t0004g0270 a0006c0009t0003g0079 a0007c0005t0003g0222 a0009c0026t0003g0137 a0009c0026t0003g0138 a0010c0036t0007g0035 a0010c0053t0007g0147 a0012c0054t0001g0045 a0013c0037t0001g0048 a0013c0037t0001g0130 a0013c0080t0012g0192 a0032c0045t0003g0171 a0036c0081t0028g0053	39	276	0.1413	-38	c.689 others(57): Show c.689-10163_689-10126delGTCTGCCCTCAGGCCATCCCCTACCT AGTGAGTGTGCC	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	3/21			chr5	TogoVar
ADAMTS3_chr4_72275969_72574221	72545689	ATCTCTTC others(31): Show ATCTCTTCTGTCTCATCAATAACACACACAACACCTTCT	A A	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0065 a0001c0001t0002g0065	1	182	0.0055	-38	c.504 others(55): Show c.504+2751_504+2788delAGAAGGTGTTGTGTGTGTTATTGATGAG ACAGAAGAGA	ADAMTS3	ENSG00000156140.11	transcript	ENST00000286657.10	protein_coding	3/21			chr4	TogoVar
ADAMTSL3_chr15_83649123_84044842	83801637	AATATATA others(31): Show AATATATAAATATAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0012 a0012	a0012c0035 a0012c0035	a0012c0035t0001 a0012c0035t0001	a0012c0035t0001g0127 a0012c0035t0001g0127	1	274	0.0037	-38	c.318 others(55): Show c.318-3005_318-2968delAATATAAATATATATATATATATATATA TATATATATA	ADAMTSL3	ENSG00000156218.13	transcript	ENST00000286744.10	protein_coding	4/29		INFO_REALIGN_3_PRIME	chr15	TogoVar
ADARB2_chr10_1172313_1742525	1560432	CGCACCCT others(31): Show CGCACCCTGGGTCGTCACACACGCGTGAACACACGGGGG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	106	0.0094	-38	c.100 others(59): Show c.100+176581_100+176618delCCCCCGTGTGTTCACGCGTGTGTG ACGACCCAGGGTGC	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADARB2_chr10_1172313_1742525	1602659	TACACATC others(31): Show TACACATCCACACACATATGCACACACACCTGTACATAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG02080.hp2 others(23): Show HG01081.hp1 HG01081.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02622.hp1 HG02683.hp1 HG02897.hp2 HG02965.hp2 HG03017.hp1 HG03041.hp2 HG04184.hp2 NA18945.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18989.hp2 NA18998.hp1 NA19043.hp1 NA19043.hp2 NA19070.hp2 NA20129.hp1 NA20805.hp1	a0001 a0002 a0010 others(1): Show a0001 a0002 a0010 a0011	a0001c0001 a0001c0003 a0002c0002 others(3): Show a0001c0001 a0001c0003 a0002c0002 a0002c0004 a0010c0009 a0011c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(22): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0022 a0001c0001t0023 a0001c0001t0052 a0001c0001t0054 a0001c0003t0045 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0002t0007 a0002c0002t0008 a0002c0002t0026 a0002c0002t0048 a0002c0002t0053 a0002c0002t0062 a0002c0002t0065 a0002c0004t0005 a0002c0004t0028 a0010c0009t0024 a0011c0008t0016	a0001c0001t0001g0069 a0001c0001t0003g0098 a0001c0001t0009g0055 others(23): Show a0001c0001t0001g0069 a0001c0001t0003g0098 a0001c0001t0009g0055 a0001c0001t0010g0013 a0001c0001t0012g0009 a0001c0001t0013g0007 a0001c0001t0022g0015 a0001c0001t0023g0023 a0001c0001t0052g0062 a0001c0001t0054g0083 a0001c0003t0045g0057 a0002c0002t0002g0075 a0002c0002t0004g0095 a0002c0002t0004g0096 a0002c0002t0005g0022 a0002c0002t0007g0002 a0002c0002t0008g0042 a0002c0002t0026g0032 a0002c0002t0048g0068 a0002c0002t0053g0106 a0002c0002t0062g0093 a0002c0002t0065g0086 a0002c0004t0005g0029 a0002c0004t0028g0020 a0010c0009t0024g0016 a0011c0008t0016g0003	26	106	0.2453	-38	c.100 others(59): Show c.100+134354_100+134391delGTATGTACAGGTGTGTGTGCATAT GTGTGTGGATGTGT	ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	1/9			chr10	TogoVar
ADCY8_chr8_130775301_131045909	131019805	CTCTCTCT others(31): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTG	C C	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0003 a0001c0003t0007g0003	1	246	0.0041	-38	c.960 others(57): Show c.960+19531_960+19568delCAGACAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGA	ADCY8	ENSG00000155897.10	transcript	ENST00000286355.10	protein_coding	1/17			chr8	TogoVar
ADGRA3_chr4_22382376_22521066	22390330	ATATATAT others(31): Show ATATATATAAAATACATATTATATATATATAATACGTAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01070.hp2 HG01071.hp1 others(13): Show HG00621.hp2 HG01070.hp2 HG01071.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01361.hp2 HG02109.hp2 HG02293.hp2 HG02300.hp1 HG03942.hp2 HG04184.hp2 NA19005.hp1 NA19085.hp2 NA19091.hp2 NA20905.hp2	a0002 a0002	a0002c0003 a0002c0005 a0002c0003 a0002c0005	a0002c0003t0001 a0002c0005t0001 a0002c0003t0001 a0002c0005t0001	a0002c0003t0001g0001 a0002c0003t0001g0085 a0002c0003t0001g0086 others(12): Show a0002c0003t0001g0001 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0089 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0129 a0002c0003t0001g0130 a0002c0003t0001g0135 a0002c0003t0001g0217 a0002c0005t0001g0149 a0002c0005t0001g0214 a0002c0005t0001g0218 a0002c0005t0001g0232	16	290	0.0552	-38	c.262 others(57): Show c.2628-1185_2628-1148delATACGTATTATATATATATAATATGT ATTTTATATATA	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	17/18			chr4	TogoVar
ADGRB3_chr6_68630282_69394506	68817307	GTATATAT others(31): Show GTATATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02451.hp1 HG02717.hp2 others(6): Show HG02109.hp1 HG02451.hp1 HG02717.hp2 HG02809.hp1 HG02965.hp1 HG03098.hp2 HG03139.hp2 HG03453.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0003t0001 a0001c0006t0001	a0001c0001t0001g0003 a0001c0001t0001g0097 a0001c0001t0001g0107 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0003g0061 a0001c0002t0001g0042 a0001c0002t0004g0051 a0001c0003t0001g0029 a0001c0006t0001g0075	9	120	0.0750	-38	c.758 others(59): Show c.758-113235_758-113198delTATATATATATATATATATATATA TATATATATATATA	ADGRB3	ENSG00000135298.15	transcript	ENST00000370598.6	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr6	TogoVar
ADGRD1_chr12_130948907_131146469	131032672	GTCACAGA others(31): Show GTCACAGAGATGACATTTATTAGAGAAATCGCCACCCCA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01243.hp1 HG02258.hp2 others(7): Show HG01167.hp1 HG01243.hp1 HG02258.hp2 HG02895.hp1 HG02965.hp2 HG03209.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp1 NA18906.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0003 a0001c0005 a0001c0010 others(3): Show a0001c0003 a0001c0005 a0001c0010 a0002c0027 a0003c0033 a0008c0034	a0001c0003t0004 a0001c0005t0001 a0001c0010t0007 others(3): Show a0001c0003t0004 a0001c0005t0001 a0001c0010t0007 a0002c0027t0001 a0003c0033t0030 a0008c0034t0026	a0001c0003t0004g0234 a0001c0005t0001g0112 a0001c0005t0001g0127 others(7): Show a0001c0003t0004g0234 a0001c0005t0001g0112 a0001c0005t0001g0127 a0001c0005t0001g0128 a0001c0005t0001g0206 a0001c0005t0001g0239 a0001c0010t0007g0213 a0002c0027t0001g0179 a0003c0033t0030g0231 a0008c0034t0026g0043	10	242	0.0413	-38	c.147 others(59): Show c.1473+18346_1473+18383delATTTATTAGAGAAATCGCCACCCC ATCACAGAGATGAC	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRD1_chr12_130948907_131146469	131032710	ATCACAGA others(31): Show ATCACAGAGATGACGTTTATTAGAGAAATCGCCACCCCG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02630.hp1 others(6): Show HG02257.hp2 HG02258.hp1 HG02630.hp1 HG02717.hp2 HG02723.hp1 HG02922.hp2 HG02965.hp1 HG03139.hp1 HG03579.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0003 a0002c0018 a0002c0044 others(2): Show a0001c0003 a0002c0018 a0002c0044 a0003c0012 a0003c0041	a0001c0003t0001 a0001c0003t0013 a0001c0003t0018 others(4): Show a0001c0003t0001 a0001c0003t0013 a0001c0003t0018 a0002c0018t0020 a0002c0044t0007 a0003c0012t0017 a0003c0041t0004	a0001c0003t0001g0152 a0001c0003t0013g0129 a0001c0003t0018g0117 others(6): Show a0001c0003t0001g0152 a0001c0003t0013g0129 a0001c0003t0018g0117 a0001c0003t0018g0232 a0002c0018t0020g0123 a0002c0018t0020g0124 a0002c0044t0007g0126 a0003c0012t0017g0158 a0003c0041t0004g0178	9	242	0.0372	-38	c.147 others(59): Show c.1473+18379_1473+18416delATGACGTTTATTAGAGAAATCGCC ACCCCGTCACAGAG	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRD1_chr12_130948907_131146469	131032719	ATGACGTT others(31): Show ATGACGTTTATTAGAGAAATCGCCACCCCGTCACAGAGG	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18974.hp1 HG02071.hp2 NA18974.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0004t0005 a0001c0002t0003 a0001c0004t0005	a0001c0002t0003g0064 a0001c0004t0005g0094 a0001c0002t0003g0064 a0001c0004t0005g0094	2	242	0.0083	-38	c.147 others(59): Show c.1473+18385_1473+18422delTTTATTAGAGAAATCGCCACCCCG TCACAGAGGTGACG	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRD1_chr12_130948907_131146469	131032725	TTTATTAG others(31): Show TTTATTAGAGAAATCGCCACCCCGTCACAGAGGTGACGC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00741.hp2 HG01069.hp2 others(11): Show HG00738.hp1 HG00741.hp2 HG01069.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01258.hp1 HG01515.hp1 HG01943.hp2 HG01981.hp2 HG02109.hp1 HG02293.hp1 HG02818.hp1 HG03710.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0001c0019 a0005c0011 a0005c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0003t0006 a0001c0004t0002 a0001c0007t0004 a0001c0019t0004 a0005c0011t0002 a0005c0021t0021	a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0208 others(11): Show a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0208 a0001c0001t0002g0098 a0001c0001t0002g0107 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0015g0097 a0001c0003t0006g0019 a0001c0004t0002g0164 a0001c0007t0004g0102 a0001c0019t0004g0230 a0005c0011t0002g0110 a0005c0021t0021g0048	14	242	0.0579	-38	c.147 others(59): Show c.1473+18645_1473+18682delGTGACGCTTATTAGAGAAATCGCC ACCCCGTCACAGAG	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRD1_chr12_130948907_131146469	131036714	CGCACCGG others(31): Show CGCACCGGGCCTCACTCACTGCATGGGGCCTCACTCACT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	242	0.0041	-38	c.147 others(59): Show c.1473+22397_1473+22434delTGGGGCCTCACTCACTGCACCGGG CCTCACTCACTGCA	ADGRD1	ENSG00000111452.13	transcript	ENST00000261654.10	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr12	TogoVar
ADGRL3_chr4_61195326_62083335	61432570	CTTCCTTT others(31): Show CTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG03710.hp1 HG02486.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0026 a0001c0001t0001 a0001c0002t0026	a0001c0001t0001g0051 a0001c0002t0026g0027 a0001c0001t0001g0051 a0001c0002t0026g0027	2	58	0.0345	-38	c.-17 others(59): Show c.-174+49383_-174+49420delTCCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTT	ADGRL3	ENSG00000150471.17	transcript	ENST00000683033.1	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
ADGRV1_chr5_90553797_91169437	90797015	ACATACCA others(31): Show ACATACCAAATTATAAAGACCATCGACACTATGAAGAAG	A A	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0058 a0058	a0058c0075 a0058c0075	a0058c0075t0001 a0058c0075t0001	a0058c0075t0001g0056 a0058c0075t0001g0056	1	158	0.0063	-38	c.145 others(59): Show c.14517+5671_14518-5685delATACCAAATTATAAAGACCATCGA CACTATGAAGAAGC	ADGRV1	ENSG00000164199.18	transcript	ENST00000405460.9	protein_coding	70/89		INFO_REALIGN_3_PRIME	chr5	TogoVar
AFAP1_chr4_7753714_7944861	7840267	TGTGTGTG others(31): Show TGTGTGTGTGTGTGTGTGTGTTCCTGGTTTGTTTTTGGG	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 homoSapiens_chm13v2.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0004 a0001c0021 a0001c0004 a0001c0021	a0001c0004t0006 a0001c0021t0006 a0001c0004t0006 a0001c0021t0006	a0001c0004t0006g0020 a0001c0021t0006g0294 a0001c0004t0006g0020 a0001c0021t0006g0294	2	318	0.0063	-38	c.547 others(55): Show c.547-1602_547-1565delCCCAAAAACAAACCAGGAACACACACAC ACACACACAC	AFAP1	ENSG00000196526.11	transcript	ENST00000420658.6	protein_coding	5/17			chr4	TogoVar
AFF1_chr4_86930011_87146039	87022566	ATATATAT others(31): Show ATATATATATATATATATCTATCTATATCTATCTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00673.hp1 HG00741.hp2 others(25): Show HG00140.hp2 HG00673.hp1 HG00741.hp2 HG01074.hp1 HG01123.hp1 HG01192.hp1 HG01256.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01993.hp1 HG02056.hp1 HG02698.hp1 HG02738.hp1 HG02809.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG04115.hp2 NA18940.hp1 NA18940.hp2 NA18965.hp1 NA18971.hp1 NA18988.hp2 NA18998.hp2 NA18999.hp2 NA19055.hp2 NA19081.hp2	a0001 a0004 a0012 a0001 a0004 a0012	a0001c0001 a0001c0011 a0004c0009 others(1): Show a0001c0001 a0001c0011 a0004c0009 a0012c0021	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0029 a0001c0001t0030 a0001c0001t0064 a0001c0001t0065 a0001c0011t0008 a0004c0009t0004 a0012c0021t0030	a0001c0001t0002g0201 a0001c0001t0002g0246 a0001c0001t0003g0027 others(25): Show a0001c0001t0002g0201 a0001c0001t0002g0246 a0001c0001t0003g0027 a0001c0001t0003g0069 a0001c0001t0003g0245 a0001c0001t0004g0028 a0001c0001t0004g0123 a0001c0001t0004g0202 a0001c0001t0004g0203 a0001c0001t0004g0204 a0001c0001t0004g0212 a0001c0001t0004g0213 a0001c0001t0004g0224 a0001c0001t0004g0228 a0001c0001t0009g0208 a0001c0001t0009g0216 a0001c0001t0009g0217 a0001c0001t0009g0218 a0001c0001t0009g0233 a0001c0001t0012g0056 a0001c0001t0029g0236 a0001c0001t0030g0234 a0001c0001t0064g0244 a0001c0001t0065g0214 a0001c0011t0008g0110 a0004c0009t0004g0057 a0004c0009t0004g0225 a0012c0021t0030g0231	28	294	0.0952	-38	c.39- others(55): Show c.39-23590_39-23553delATATATATCTATCTATATCTATCTGTGT GTATATATAT	AFF1	ENSG00000172493.23	transcript	ENST00000395146.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr4	TogoVar
AGA_chr4_177425774_177447437	177432477	TAATTTTT others(31): Show TAATTTTTATTGACTTTTGTGTCTTAGTGCTTAAAAAAG	T T	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	442	0.0023	-38	c.940 others(53): Show c.940+699_941-670delCTTTTTTAAGCACTAAGACACAAAAGTCAA TAAAAATT	AGA	ENSG00000038002.9	transcript	ENST00000264595.7	protein_coding	8/8			chr4	TogoVar
AGBL4_chr1_48527854_50028954	49237512	TTATATAT others(31): Show TTATATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0093 a0001c0001t0005g0093	1	104	0.0096	-38	c.377 others(55): Show c.377+8220_377+8257delTATATATATATATATATATATATATATA TATATATATA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	4/13			chr1	TogoVar
AGMO_chr7_15195317_15567015	15198236	AGAGAGAG others(31): Show AGAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp2 HG01975.hp2 HG02273.hp1 others(4): Show HG01257.hp2 HG01975.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02723.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0006 a0001c0003t0001 a0001c0001t0001 a0001c0001t0006 a0001c0003t0001	a0001c0001t0001g0140 a0001c0001t0001g0166 a0001c0001t0001g0167 others(4): Show a0001c0001t0001g0140 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0198 a0001c0001t0006g0233 a0001c0003t0001g0068	7	236	0.0297	-38	c.30 others(49): Show c.3011_*3048delACTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTC TCTC	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding		2080		chr7	TogoVar
AGMO_chr7_15195317_15567015	15354464	GTGTGTAT others(31): Show GTGTGTATACACACGTGTGTATATACACACGTGTATATA	G G	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	236	0.0042	-38	c.126 others(59): Show c.1263+11012_1263+11049delTATATACACGTGTGTATATACACA CGTGTGTATACACA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15531000	ATATATTC others(31): Show ATATATTCTATATATATTCTATATATTCCATATATATTC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00741.hp2 HG02165.hp1 others(18): Show HG00558.hp1 HG00741.hp2 HG02165.hp1 HG02300.hp2 HG02647.hp1 HG02698.hp2 HG02896.hp2 HG03486.hp2 HG03491.hp2 HG03654.hp1 HG03710.hp1 HG04184.hp1 HG04228.hp2 NA19043.hp1 NA19064.hp2 NA19078.hp2 NA19084.hp1 NA19088.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp2	a0001 a0009 a0016 a0001 a0009 a0016	a0001c0001 a0001c0005 a0009c0013 others(1): Show a0001c0001 a0001c0005 a0009c0013 a0016c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0005t0003 a0001c0005t0004 a0009c0013t0006 a0016c0022t0004	a0001c0001t0001g0027 a0001c0001t0001g0046 a0001c0001t0001g0054 others(18): Show a0001c0001t0001g0027 a0001c0001t0001g0046 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0106 a0001c0001t0001g0128 a0001c0001t0001g0156 a0001c0001t0001g0168 a0001c0001t0001g0175 a0001c0001t0002g0053 a0001c0001t0002g0085 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0005t0003g0001 a0001c0005t0004g0002 a0009c0013t0006g0229 a0016c0022t0004g0020	21	236	0.0890	-38	c.409 others(57): Show c.409+13734_409+13771delGAATATATATGGAATATATAGAATAT ATATAGAATATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGO2_chr8_140515156_140640633	140607451	AGAAAAAT others(31): Show AGAAAAATTATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0281 a0001c0010t0002g0281	1	338	0.0030	-38	c.23- others(55): Show c.23-22178_23-22141delATATATATATATATATATATATATATAT ATAATTTTTC	AGO2	ENSG00000123908.12	transcript	ENST00000220592.10	protein_coding	1/18			chr8	TogoVar
AGPAT2_chr9_136668143_136692457	136678770	TCCCCTTG others(31): Show TCCCCTTGCTCTGTCTTGCTCTGTGACACAATGTGTCAC	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp2 HG01074.hp1 others(27): Show HG00738.hp2 HG01069.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp2 HG01943.hp1 HG02145.hp2 HG02572.hp2 HG02717.hp2 HG02738.hp1 HG02976.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03927.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0004 a0002c0002 others(3): Show a0001c0001 a0001c0004 a0002c0002 a0002c0007 a0003c0006 a0004c0005	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 a0001c0004t0003 a0001c0004t0007 a0002c0002t0005 a0002c0002t0006 a0002c0007t0006 a0003c0006t0003 a0004c0005t0015	a0001c0001t0002g0045 a0001c0001t0002g0212 a0001c0001t0003g0225 others(20): Show a0001c0001t0002g0045 a0001c0001t0002g0212 a0001c0001t0003g0225 a0001c0001t0005g0013 a0001c0001t0005g0082 a0001c0001t0005g0215 a0001c0001t0019g0093 a0001c0004t0003g0079 a0001c0004t0007g0049 a0001c0004t0007g0051 a0001c0004t0007g0250 a0002c0002t0005g0019 a0002c0002t0005g0065 a0002c0002t0006g0017 a0002c0002t0006g0052 a0002c0002t0006g0054 a0002c0002t0006g0057 a0002c0002t0006g0060 a0002c0007t0006g0062 a0003c0006t0003g0230 a0003c0006t0003g0231 a0004c0005t0015g0226 a0004c0005t0015g0227	30	374	0.0802	-38	c.183 others(55): Show c.183-1252_183-1215delGTGACACATTGTGTCACAGAGCAAGACA GAGCAAGGGG	AGPAT2	ENSG00000169692.14	transcript	ENST00000371696.7	protein_coding	1/5			chr9	TogoVar
AGPS_chr2_177387773_177548834	177467081	CACTGCAG others(31): Show CACTGCAGCCAATGTCTTTGCAGCAGCCACTCCAGATGG	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp2 HG02723.hp1 others(3): Show HG02109.hp1 HG02258.hp2 HG02723.hp1 HG02965.hp2 HG03209.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0012 a0001c0001t0013 a0001c0001t0037 others(1): Show a0001c0001t0012 a0001c0001t0013 a0001c0001t0037 a0001c0002t0013	a0001c0001t0012g0014 a0001c0001t0012g0015 a0001c0001t0012g0016 others(3): Show a0001c0001t0012g0014 a0001c0001t0012g0015 a0001c0001t0012g0016 a0001c0001t0013g0018 a0001c0001t0037g0019 a0001c0002t0013g0206	6	258	0.0233	-38	c.997 others(55): Show c.997-1334_997-1297delACTGCAGCCAATGTCTTTGCAGCAGCCA CTCCAGATGG	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	9/19			chr2	TogoVar
AGRN_chr1_1015120_1061116	1030889	ATGTGTGT others(31): Show ATGTGTGTGTGTGCAGTGCATGGTGCTGTGAGATCAGCG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(133): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02735.hp1 HG02735.hp2 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG03098.hp1 HG03139.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18998.hp1 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19043.hp2 NA19056.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(15): Show a0001 a0002 a0003 a0006 a0011 a0012 a0017 a0018 a0020 a0023 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032	a0001c0001 a0001c0004 a0001c0006 others(25): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0001c0015 a0001c0019 a0001c0023 a0001c0028 a0001c0044 a0002c0005 a0002c0062 a0003c0017 a0006c0010 a0006c0030 a0011c0020 a0012c0021 a0017c0033 a0018c0034 a0020c0038 a0023c0043 a0025c0041 a0026c0039 a0027c0046 a0028c0045 a0029c0061 a0030c0049 a0031c0060 a0032c0031	a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0014 a0001c0004t0001 a0001c0006t0001 a0001c0007t0005 a0001c0007t0008 a0001c0015t0001 a0001c0019t0001 a0001c0023t0001 a0001c0028t0006 a0001c0044t0001 a0002c0005t0004 a0002c0062t0011 a0003c0017t0001 a0006c0010t0007 a0006c0030t0001 a0011c0020t0009 a0012c0021t0001 a0017c0033t0001 a0018c0034t0005 a0020c0038t0001 a0023c0043t0001 a0025c0041t0001 a0026c0039t0001 a0027c0046t0004 a0028c0045t0004 a0029c0061t0004 a0030c0049t0001 a0031c0060t0007 a0032c0031t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(129): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0002g0121 a0001c0001t0002g0132 a0001c0001t0014g0002 a0001c0004t0001g0170 a0001c0004t0001g0172 a0001c0004t0001g0173 a0001c0004t0001g0184 a0001c0004t0001g0193 a0001c0006t0001g0006 a0001c0006t0001g0017 a0001c0006t0001g0165 a0001c0007t0005g0167 a0001c0007t0005g0169 a0001c0007t0008g0183 a0001c0015t0001g0004 a0001c0015t0001g0196 a0001c0019t0001g0074 a0001c0019t0001g0076 a0001c0023t0001g0135 a0001c0023t0001g0136 a0001c0028t0006g0166 a0001c0028t0006g0168 a0001c0044t0001g0008 a0002c0005t0004g0176 a0002c0005t0004g0185 a0002c0005t0004g0186 a0002c0005t0004g0187 a0002c0005t0004g0188 a0002c0062t0011g0174 a0003c0017t0001g0158 a0006c0010t0007g0057 a0006c0010t0007g0059 a0006c0010t0007g0060 a0006c0030t0001g0058 a0011c0020t0009g0159 a0011c0020t0009g0160 a0012c0021t0001g0138 a0012c0021t0001g0139 a0017c0033t0001g0105 a0018c0034t0005g0091 a0020c0038t0001g0148 a0023c0043t0001g0066 a0025c0041t0001g0005 a0026c0039t0001g0092 a0027c0046t0004g0062 a0028c0045t0004g0063 a0029c0061t0004g0175 a0030c0049t0001g0110 a0031c0060t0007g0194 a0032c0031t0001g0120	136	210	0.6476	-38	c.464 others(55): Show c.464-4358_464-4321delAGATCAGCGTGTGTGTGTGTGCAGTGCA TGGTGCTGTG	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGTRAP_chr1_11731136_11755769	11751724	CAGGGAGT others(31): Show CAGGGAGTATGGACCAGGAAGCCACAGTCTATTCATTGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	420	0.0024	-38	c.15 others(49): Show c.1533_*1570delAGGGAGTATGGACCAGGAAGCCACAGTCTATTCA TTGT	AGTRAP	ENSG00000177674.16	transcript	ENST00000314340.10	protein_coding		956		chr1	TogoVar
AGTRAP_chr1_11731136_11755769	11751791	TATTCATT others(31): Show TATTCATTGTAGGGAGTATGGACCAGGAAGCCACAGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(38): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00639.hp1 HG01069.hp1 HG01071.hp1 HG01167.hp2 HG01175.hp2 HG01256.hp1 HG01258.hp2 HG01358.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG02027.hp2 HG02040.hp1 HG02615.hp2 HG02647.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03139.hp1 HG03453.hp2 NA18522.hp1 NA18942.hp2 NA18946.hp2 NA18948.hp2 NA18960.hp1 NA18979.hp2 NA18980.hp1 NA18993.hp1 NA19000.hp2 NA19030.hp2 NA19055.hp1 NA19066.hp1 NA19087.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0039 others(17): Show a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0084 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0109 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0147 a0001c0001t0004g0099 a0001c0001t0004g0148	41	420	0.0976	-38	c.16 others(49): Show c.1600_*1637delATTCATTGTAGGGAGTATGGACCAGGAAGCCACA GTCC	AGTRAP	ENSG00000177674.16	transcript	ENST00000314340.10	protein_coding		1023		chr1	TogoVar
AHCTF1_chr1_246834098_246936948	246845198	AAAAAATG others(31): Show AAAAAATGTTTTTTGTGGGTACACAGTAGGTGTATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01109.hp2 HG02056.hp1 others(2): Show HG00558.hp2 HG01109.hp2 HG02056.hp1 NA18959.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 others(2): Show a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0267 a0001c0001t0001g0302	5	376	0.0133	-38	c.639 others(57): Show c.6392-1308_6392-1271delATATATACACCTACTGTGTACCCACA AAAAACATTTTT	AHCTF1	ENSG00000153207.16	transcript	ENST00000648844.2	protein_coding	33/35			chr1	TogoVar
AHRR_chr5_316714_443285	394274	ACCCTCTT others(31): Show ACCCTCTTGTCTCTCCCCTTTCCTCCCTGTGTGCTGGAG	A A	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp1 HG01256.hp1 others(3): Show HG01074.hp2 HG01243.hp1 HG01256.hp1 HG03491.hp2 NA19060.hp2 NA19064.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0063 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0063 a0002c0002t0006 a0003c0004t0004	a0001c0001t0001g0018 a0001c0001t0003g0174 a0001c0001t0063g0173 others(3): Show a0001c0001t0001g0018 a0001c0001t0003g0174 a0001c0001t0063g0173 a0002c0002t0006g0076 a0002c0002t0006g0095 a0003c0004t0004g0093	6	268	0.0224	-38	c.351 others(57): Show c.351+17900_351+17937delGCCCTCTTGTCTCTCCCCTTTCCTCC CTGTGTGCTGGA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	397048	TTAGCCCC others(31): Show TTAGCCCCTGACCATCCACGTAGCCCCTGACCATCCACG	T T	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01928.hp1 HG01256.hp2 HG01258.hp1 HG01928.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0002 a0003c0004t0004g0004 a0003c0004t0004g0002 a0003c0004t0004g0004	3	268	0.0112	-38	c.352 others(57): Show c.352-16259_352-16222delCGTAGCCCCTGACCATCCACGTAGCC CCTGACCATCCA	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	398145	CCCTGACC others(31): Show CCCTGACCATCCACGTAGCCCCTGACCATCCACGTAGCT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0141 a0001c0001t0001g0141	1	268	0.0037	-38	c.352 others(57): Show c.352-15180_352-15143delCCCTGACCATCCACGTAGCTCCTGAC CATCCACGTAGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AIFM2_chr10_70107271_70137825	70133098	AAGAGAGA others(31): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp1 HG02132.hp1 HG02523.hp1 others(25): Show HG02056.hp1 HG02132.hp1 HG02523.hp1 HG02630.hp1 HG03490.hp1 HG03492.hp1 HG03579.hp2 HG03710.hp2 HG03831.hp1 NA18956.hp1 NA18961.hp2 NA18962.hp1 NA18966.hp2 NA18971.hp2 NA18975.hp1 NA18978.hp1 NA18981.hp2 NA18986.hp2 NA18994.hp1 NA19003.hp1 NA19004.hp2 NA19056.hp2 NA19058.hp1 NA19081.hp1 NA19082.hp1 NA19086.hp2 NA19091.hp1 NA19091.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0004 others(4): Show a0001c0001 a0001c0002 a0002c0004 a0002c0007 a0002c0011 a0003c0003 a0004c0008	a0001c0001t0005 a0001c0001t0011 a0001c0002t0003 others(9): Show a0001c0001t0005 a0001c0001t0011 a0001c0002t0003 a0001c0002t0007 a0001c0002t0020 a0002c0004t0001 a0002c0007t0039 a0002c0011t0005 a0003c0003t0012 a0003c0003t0037 a0004c0008t0004 a0004c0008t0012	a0001c0001t0005g0018 a0001c0001t0005g0020 a0001c0001t0005g0056 others(21): Show a0001c0001t0005g0018 a0001c0001t0005g0020 a0001c0001t0005g0056 a0001c0001t0005g0057 a0001c0001t0005g0060 a0001c0001t0005g0061 a0001c0001t0005g0064 a0001c0001t0005g0066 a0001c0001t0005g0067 a0001c0001t0011g0364 a0001c0001t0011g0365 a0001c0002t0003g0228 a0001c0002t0007g0229 a0001c0002t0020g0062 a0002c0004t0001g0106 a0002c0007t0039g0068 a0002c0011t0005g0065 a0003c0003t0012g0019 a0003c0003t0012g0059 a0003c0003t0012g0063 a0003c0003t0037g0055 a0004c0008t0004g0023 a0004c0008t0004g0123 a0004c0008t0012g0058	28	468	0.0598	-38	c.-41 others(47): Show c.-416_-379delCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CT	AIFM2	ENSG00000042286.15	transcript	ENST00000307864.3	protein_coding		274		chr10	TogoVar
AIRE_chr21_44280876_44303648	44295836	AGGGCTGC others(31): Show AGGGCTGCCGGGCCTCGCAGCGCCAGTGTTCACCCGAGT	A A	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02896.hp2 HG02897.hp2 others(1): Show HG02630.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0001 a0001c0014t0001 a0001c0001t0001 a0001c0014t0001	a0001c0001t0001g0047 a0001c0001t0001g0159 a0001c0014t0001g0219 a0001c0001t0001g0047 a0001c0001t0001g0159 a0001c0014t0001g0219	4	426	0.0094	-38	c.150 others(55): Show c.1504-544_1504-507delGCTGCCGGGCCTCGCAGCGCCAGTGTTC ACCCGAGTGG	AIRE	ENSG00000160224.17	transcript	ENST00000291582.6	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr21	TogoVar
AK5_chr1_77277019_77564966	77475398	AATATATA others(31): Show AATATATATGTATATATATACTATATATTATATATATGT	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03579.hp2 HG01123.hp2 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0025 a0001c0001t0001 a0002c0002t0025	a0001c0001t0001g0123 a0002c0002t0025g0277 a0001c0001t0001g0123 a0002c0002t0025g0277	2	284	0.0070	-38	c.106 others(57): Show c.1060-7910_1060-7873delGTATATATATACTATATATTATATAT ATGTATATATAT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK8_chr9_132720578_132883284	132842449	GCAGAATG others(31): Show GCAGAATGCTGTGAGCATGTGTAACAGGCAGGTCGGCCT	G G	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0012 a0002c0002t0002g0012	1	266	0.0038	-38	c.402 others(57): Show c.402+12370_402+12407delAGGCCGACCTGCCTGTTACACATGCT CACAGCATTCTG	AK8	ENSG00000165695.10	transcript	ENST00000298545.4	protein_coding	5/12			chr9	TogoVar
AKAP6_chr14_32324298_32842684	32510404	GTATATAT others(31): Show GTATATATATGTATATATATACATATATATATGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00639.hp2 others(28): Show HG00140.hp1 HG00140.hp2 HG00639.hp2 HG01175.hp2 HG01243.hp2 HG01346.hp1 HG01978.hp1 HG02074.hp1 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02602.hp2 HG02647.hp1 HG02809.hp1 HG03098.hp1 HG03516.hp2 HG03540.hp2 HG03831.hp2 NA18952.hp2 NA18959.hp1 NA18983.hp1 NA18991.hp2 NA18995.hp2 NA19043.hp1 NA19062.hp2 NA19077.hp1 NA19081.hp2 NA20129.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0010 a0011 a0014	a0001c0001 a0001c0006 a0002c0002 others(11): Show a0001c0001 a0001c0006 a0002c0002 a0002c0009 a0002c0044 a0003c0003 a0003c0005 a0004c0013 a0005c0011 a0007c0053 a0008c0014 a0010c0020 a0011c0016 a0014c0037	a0001c0001t0001 a0001c0001t0008 a0001c0001t0017 others(21): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0017 a0001c0001t0020 a0001c0001t0030 a0001c0006t0007 a0001c0006t0017 a0001c0006t0032 a0002c0002t0003 a0002c0002t0014 a0002c0009t0009 a0002c0044t0001 a0003c0003t0002 a0003c0003t0045 a0003c0005t0001 a0003c0005t0002 a0004c0013t0014 a0005c0011t0001 a0007c0053t0019 a0008c0014t0027 a0008c0014t0028 a0010c0020t0003 a0011c0016t0002 a0014c0037t0003	a0001c0001t0001g0059 a0001c0001t0001g0087 a0001c0001t0001g0134 others(28): Show a0001c0001t0001g0059 a0001c0001t0001g0087 a0001c0001t0001g0134 a0001c0001t0008g0129 a0001c0001t0017g0112 a0001c0001t0020g0076 a0001c0001t0030g0016 a0001c0006t0007g0099 a0001c0006t0017g0079 a0001c0006t0032g0119 a0002c0002t0003g0074 a0002c0002t0003g0082 a0002c0002t0003g0086 a0002c0002t0014g0097 a0002c0009t0009g0092 a0002c0044t0001g0009 a0003c0003t0002g0035 a0003c0003t0002g0068 a0003c0003t0002g0078 a0003c0003t0045g0107 a0003c0005t0001g0066 a0003c0005t0002g0061 a0004c0013t0014g0055 a0005c0011t0001g0024 a0005c0011t0001g0083 a0007c0053t0019g0071 a0008c0014t0027g0054 a0008c0014t0028g0021 a0010c0020t0003g0095 a0011c0016t0002g0088 a0014c0037t0003g0100	31	154	0.2013	-38	c.325 others(57): Show c.325-25141_325-25104delTGTATATATATACATATATATATGTG TATATATATATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
ALAD_chr9_113381312_113406284	113401128	CAGGACTC others(31): Show CAGGACTCTTGGTGCCACAGTCCCCGCCTCGCCCTGGAG	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0062 a0001c0003t0002g0062	1	446	0.0022	-38	c.-76 others(51): Show c.-76+46_-76+83delCTCCAGGGCGAGGCGGGGACTGTGGCACCAAG AGTCCT	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding	1/11			chr9	TogoVar
ALDH16A1_chr19_49448225_49476050	49463127	GGGGTCCA others(31): Show GGGGTCCAGACTCCTGGGTCTGAGGGAGGAGGGGCTGGC	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02145.hp2 HG02280.hp1 others(11): Show HG01243.hp2 HG02145.hp2 HG02280.hp1 HG02622.hp1 HG02723.hp2 HG03041.hp1 HG03139.hp1 HG03195.hp1 HG03486.hp2 HG03540.hp1 NA19030.hp2 NA19043.hp2 NA21309.hp1 NA21309.hp2	a0002 a0017 a0002 a0017	a0002c0003 a0017c0017 a0002c0003 a0017c0017	a0002c0003t0002 a0002c0003t0003 a0017c0017t0003 a0002c0003t0002 a0002c0003t0003 a0017c0017t0003	a0002c0003t0002g0053 a0002c0003t0003g0003 a0002c0003t0003g0044 others(4): Show a0002c0003t0002g0053 a0002c0003t0003g0003 a0002c0003t0003g0044 a0002c0003t0003g0052 a0002c0003t0003g0056 a0002c0003t0003g0061 a0017c0017t0003g0003	14	342	0.0409	-38	c.109 others(55): Show c.1098+375_1098+412delGTCCAGACTCCTGGGTCTGAGGGAGGAG GGGCTGGCGG	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
ALDH1L1_chr3_126098570_126185586	126142134	AAACTCAC others(31): Show AAACTCACTCATGGAGAAACAGAAAATTTGAATAGATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00597.hp2 others(112): Show HG00099.hp1 HG00140.hp1 HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01256.hp2 HG01258.hp2 HG01358.hp2 HG01496.hp1 HG01891.hp2 HG02015.hp1 HG02071.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03927.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18967.hp1 NA18970.hp2 NA18983.hp1 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19002.hp1 NA19009.hp2 NA19030.hp2 NA19054.hp1 NA19056.hp2 NA19062.hp1 NA19065.hp1 NA19068.hp2 NA19074.hp2 NA19080.hp2 NA19081.hp2 NA19086.hp2 NA19089.hp2 NA21309.hp2	a0002 a0005 a0006 others(12): Show a0002 a0005 a0006 a0008 a0009 a0010 a0011 a0013 a0014 a0019 a0020 a0021 a0022 a0023 a0028	a0002c0002 a0002c0013 a0005c0005 others(18): Show a0002c0002 a0002c0013 a0005c0005 a0005c0020 a0005c0043 a0006c0006 a0006c0038 a0008c0008 a0009c0009 a0009c0024 a0010c0012 a0010c0037 a0011c0011 a0013c0021 a0014c0022 a0019c0035 a0020c0039 a0021c0036 a0022c0033 a0023c0034 a0028c0025	a0002c0002t0001 a0002c0013t0001 a0005c0005t0001 others(18): Show a0002c0002t0001 a0002c0013t0001 a0005c0005t0001 a0005c0020t0001 a0005c0043t0001 a0006c0006t0001 a0006c0038t0001 a0008c0008t0001 a0009c0009t0001 a0009c0024t0001 a0010c0012t0001 a0010c0037t0001 a0011c0011t0001 a0013c0021t0001 a0014c0022t0001 a0019c0035t0001 a0020c0039t0001 a0021c0036t0001 a0022c0033t0001 a0023c0034t0001 a0028c0025t0001	a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0029 others(102): Show a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0029 a0002c0002t0001g0031 a0002c0002t0001g0044 a0002c0002t0001g0048 a0002c0002t0001g0051 a0002c0002t0001g0067 a0002c0002t0001g0085 a0002c0002t0001g0087 a0002c0002t0001g0089 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0118 a0002c0002t0001g0120 a0002c0002t0001g0160 a0002c0002t0001g0162 a0002c0002t0001g0180 a0002c0002t0001g0200 a0002c0002t0001g0210 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0229 a0002c0002t0001g0235 a0002c0002t0001g0244 a0002c0002t0001g0250 a0002c0002t0001g0252 a0002c0002t0001g0260 a0002c0002t0001g0268 a0002c0002t0001g0283 a0002c0002t0001g0290 a0002c0002t0001g0298 a0002c0002t0001g0308 a0002c0002t0001g0309 a0002c0002t0001g0311 a0002c0013t0001g0002 a0002c0013t0001g0038 a0005c0005t0001g0001 a0005c0005t0001g0004 a0005c0005t0001g0015 a0005c0005t0001g0026 a0005c0005t0001g0037 a0005c0005t0001g0039 a0005c0005t0001g0046 a0005c0005t0001g0047 a0005c0005t0001g0127 a0005c0005t0001g0128 a0005c0005t0001g0149 a0005c0005t0001g0187 a0005c0005t0001g0323 a0005c0020t0001g0014 a0005c0043t0001g0145 a0006c0006t0001g0010 a0006c0006t0001g0056 a0006c0006t0001g0059 a0006c0006t0001g0061 a0006c0006t0001g0063 a0006c0006t0001g0066 a0006c0006t0001g0136 a0006c0006t0001g0147 a0006c0038t0001g0068 a0008c0008t0001g0003 a0008c0008t0001g0034 a0008c0008t0001g0040 a0008c0008t0001g0041 a0008c0008t0001g0045 a0008c0008t0001g0077 a0008c0008t0001g0175 a0009c0009t0001g0006 a0009c0009t0001g0062 a0009c0009t0001g0081 a0009c0009t0001g0194 a0009c0009t0001g0201 a0009c0009t0001g0202 a0009c0024t0001g0032 a0010c0012t0001g0088 a0010c0012t0001g0129 a0010c0012t0001g0133 a0010c0012t0001g0177 a0010c0012t0001g0292 a0010c0012t0001g0293 a0010c0037t0001g0124 a0011c0011t0001g0021 a0011c0011t0001g0024 a0011c0011t0001g0130 a0011c0011t0001g0144 a0011c0011t0001g0166 a0011c0011t0001g0192 a0013c0021t0001g0142 a0013c0021t0001g0143 a0014c0022t0001g0028 a0014c0022t0001g0074 a0019c0035t0001g0167 a0020c0039t0001g0042 a0021c0036t0001g0267 a0022c0033t0001g0135 a0023c0034t0001g0025 a0028c0025t0001g0159	115	338	0.3402	-38	c.107 others(57): Show c.1077-4212_1077-4175delATATCTATTCAAATTTTCTGTTTCTC CATGAGTGAGTT	ALDH1L1	ENSG00000144908.14	transcript	ENST00000393434.7	protein_coding	9/22			chr3	TogoVar
ALG12_chr22_49895229_49923438	49922256	TAGTCAGG others(31): Show TAGTCAGGACCGGCCTCTCCGATTCTTACGCCCCTCAGC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00597.hp2 others(34): Show HG00438.hp2 HG00544.hp2 HG00597.hp2 HG00642.hp1 HG01123.hp2 HG01433.hp1 HG01975.hp2 HG02015.hp2 HG02056.hp1 HG02559.hp1 HG02698.hp1 HG02717.hp1 HG02896.hp1 HG02897.hp1 HG02976.hp2 HG03239.hp1 HG03654.hp1 HG03704.hp1 HG03927.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA18939.hp2 NA18940.hp2 NA18947.hp1 NA18952.hp2 NA18967.hp2 NA18971.hp1 NA18974.hp2 NA18980.hp2 NA18989.hp2 NA18994.hp1 NA18994.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0012 others(1): Show a0001c0001 a0001c0002 a0001c0012 a0002c0003	a0001c0001t0001 a0001c0002t0006 a0001c0002t0025 others(8): Show a0001c0001t0001 a0001c0002t0006 a0001c0002t0025 a0001c0002t0064 a0001c0012t0001 a0002c0003t0004 a0002c0003t0014 a0002c0003t0017 a0002c0003t0038 a0002c0003t0039 a0002c0003t0040	a0001c0001t0001g0011 a0001c0002t0006g0045 a0001c0002t0006g0181 others(18): Show a0001c0001t0001g0011 a0001c0002t0006g0045 a0001c0002t0006g0181 a0001c0002t0025g0046 a0001c0002t0064g0172 a0001c0012t0001g0118 a0002c0003t0004g0007 a0002c0003t0004g0012 a0002c0003t0004g0054 a0002c0003t0004g0056 a0002c0003t0004g0058 a0002c0003t0004g0059 a0002c0003t0004g0061 a0002c0003t0004g0062 a0002c0003t0014g0020 a0002c0003t0014g0053 a0002c0003t0014g0060 a0002c0003t0017g0015 a0002c0003t0038g0057 a0002c0003t0039g0055 a0002c0003t0040g0051	37	348	0.1063	-38	c.-41 others(49): Show c.-4110_-4073delGCTGAGGGGCGTAAGAATCGGAGAGGCCGGTCCT GACT	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding		3819		chr22	TogoVar
ALG12_chr22_49895229_49923438	49922287	CCCTCAGC others(31): Show CCCTCAGCAGTCAGGACCGGCCTCTCCGATTCTTACCCG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp1 HG01361.hp2 HG01884.hp2 others(33): Show HG00741.hp1 HG01361.hp2 HG01884.hp2 HG01891.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp1 HG03710.hp1 HG03942.hp2 HG06807.hp1 NA18940.hp1 NA18943.hp1 NA18950.hp1 NA18966.hp2 NA18982.hp2 NA19004.hp1 NA19030.hp2 NA19043.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0006	a0001c0002 a0001c0004 a0001c0008 others(4): Show a0001c0002 a0001c0004 a0001c0008 a0002c0003 a0003c0006 a0004c0009 a0006c0016	a0001c0002t0006 a0001c0002t0008 a0001c0002t0026 others(12): Show a0001c0002t0006 a0001c0002t0008 a0001c0002t0026 a0001c0002t0072 a0001c0002t0074 a0001c0004t0009 a0001c0004t0019 a0001c0004t0022 a0001c0004t0032 a0001c0008t0024 a0002c0003t0042 a0002c0003t0063 a0003c0006t0006 a0004c0009t0023 a0006c0016t0041	a0001c0002t0006g0044 a0001c0002t0008g0013 a0001c0002t0008g0078 others(24): Show a0001c0002t0006g0044 a0001c0002t0008g0013 a0001c0002t0008g0078 a0001c0002t0008g0085 a0001c0002t0026g0041 a0001c0002t0072g0174 a0001c0002t0074g0194 a0001c0004t0009g0016 a0001c0004t0009g0094 a0001c0004t0009g0095 a0001c0004t0009g0096 a0001c0004t0019g0028 a0001c0004t0022g0027 a0001c0004t0032g0097 a0001c0008t0024g0170 a0001c0008t0024g0171 a0002c0003t0042g0098 a0002c0003t0063g0183 a0003c0006t0006g0042 a0003c0006t0006g0043 a0003c0006t0006g0175 a0003c0006t0006g0176 a0003c0006t0006g0177 a0003c0006t0006g0180 a0004c0009t0023g0178 a0004c0009t0023g0179 a0006c0016t0041g0099	36	348	0.1035	-38	c.-41 others(49): Show c.-4141_-4104delCGGGTAAGAATCGGAGAGGCCGGTCCTGACTGCT GAGG	ALG12	ENSG00000182858.14	transcript	ENST00000330817.11	protein_coding		3850		chr22	TogoVar
ALOXE3_chr17_8090900_8123514	8107960	AGGAAGGA others(31): Show AGGAAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG03098.hp1 HG02148.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0133 a0001c0001t0006g0377 a0001c0001t0002g0133 a0001c0001t0006g0377	2	422	0.0047	-38	c.168 others(55): Show c.1684+470_1684+507delCTTCCTTTCTTTCTTTCTCTCTCTCTCT CTCTCCTTCC	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
AMIGO1_chr1_109499178_109514727	109511253	AAAAAAGA others(31): Show AAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00741.hp1 others(25): Show HG00140.hp1 HG00323.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01243.hp1 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01358.hp2 HG02735.hp2 HG03017.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04228.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005	a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0004g0004 others(1): Show a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0004g0004 a0001c0001t0005g0005	28	400	0.0700	-38	c.-19 others(49): Show c.-1959_-1922delCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTTT	AMIGO1	ENSG00000181754.7	transcript	ENST00000369864.5	protein_coding		1527		chr1	TogoVar
AMN1_chr12_31666142_31734021	31731859	TTTACTTG others(31): Show TTTACTTGCAGTTCAAGAAAATCAGACTTTCAGAGAGTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0359 a0001c0001t0008g0359	1	432	0.0023	-38	c.-28 others(49): Show c.-2889_-2852delCACTCTCTGAAAGTCTGATTTTCTTGAACTGCAA GTAA	AMN1	ENSG00000151743.11	transcript	ENST00000281471.11	protein_coding		2839		chr12	TogoVar
AMPD3_chr11_10450264_10512579	10511563	TGGCCCAG others(31): Show TGGCCCAGCATGAATGTGAGTGACCTGTTAACTTCCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	390	0.0026	-38	c.56 others(49): Show c.5680_*5717delGGCCCAGCATGAATGTGAGTGACCTGTTAACTTC CCTC	AMPD3	ENSG00000133805.16	transcript	ENST00000396553.7	protein_coding		3985		chr11	TogoVar

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Search Results (Total: 2603 hits)