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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Results per page.

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
ATP6V1H_chr8_53710543_53848245	53755711	TATATATA others(22): Show TATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	286	0.0035	-29	c.127 others(46): Show c.1277+815_1277+843delTATATATATATATATATATATATATATA T	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP6V1H_chr8_53710543_53848245	53755716	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0106 a0001c0001t0002g0106	1	286	0.0035	-29	c.127 others(46): Show c.1277+810_1277+838delATATATATATATATATATATATATATAT A	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	12/13			chr8	TogoVar
ATP9A_chr20_51591514_51773390	51651294	AATATATA others(22): Show AATATATATTTACATAATATATTATATAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00738.hp2 HG01891.hp2 others(5): Show HG00099.hp2 HG00738.hp2 HG01891.hp2 HG02148.hp1 HG02965.hp2 HG03130.hp2 HG03225.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0005 a0001c0002t0020 a0001c0002t0068 others(1): Show a0001c0002t0005 a0001c0002t0020 a0001c0002t0068 a0001c0003t0014	a0001c0002t0005g0142 a0001c0002t0005g0286 a0001c0002t0020g0143 others(5): Show a0001c0002t0005g0142 a0001c0002t0005g0286 a0001c0002t0020g0143 a0001c0002t0068g0293 a0001c0003t0014g0152 a0001c0003t0014g0153 a0001c0003t0014g0157 a0001c0003t0014g0158	8	312	0.0256	-29	c.150 others(48): Show c.1506+5615_1506+5643delATTATATAATATATTATGTAAATATA TAT	ATP9A	ENSG00000054793.14	transcript	ENST00000338821.6	protein_coding	14/27			chr20	TogoVar
ATRNL1_chr10_115088365_115953999	115586304	TTGCTAGA others(22): Show TTGCTAGATTGGGGAAGTTCTCCTGGATAA	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01081.hp2 HG01123.hp1 others(17): Show HG00741.hp2 HG01081.hp2 HG01123.hp1 HG01361.hp2 HG01943.hp2 HG01952.hp1 HG02015.hp1 HG02132.hp2 HG02135.hp1 HG02300.hp1 HG02523.hp1 NA18957.hp2 NA18959.hp1 NA18994.hp2 NA18995.hp2 NA19003.hp1 NA19011.hp2 NA19070.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0016 a0001c0001 a0001c0016	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0001t0046 a0001c0016t0003	a0001c0001t0001g0036 a0001c0001t0001g0055 a0001c0001t0001g0065 others(17): Show a0001c0001t0001g0036 a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0001g0125 a0001c0001t0003g0066 a0001c0001t0003g0074 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0006g0100 a0001c0001t0006g0109 a0001c0001t0009g0122 a0001c0001t0046g0099 a0001c0016t0003g0097	20	128	0.1563	-29	c.379 others(50): Show c.3795+36770_3795+36798delGCTAGATTGGGGAAGTTCTCCTGG ATAAT	ATRNL1	ENSG00000107518.18	transcript	ENST00000355044.8	protein_coding	26/28		INFO_REALIGN_3_PRIME	chr10	TogoVar
ATRN_chr20_3466018_3656118	3630916	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0006 a0001c0007t0006	a0001c0007t0006g0202 a0001c0007t0006g0202	1	220	0.0046	-29	c.386 others(48): Show c.3864-3375_3864-3347delTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	ATRN	ENSG00000088812.18	transcript	ENST00000262919.10	protein_coding	25/28		INFO_REALIGN_3_PRIME	chr20	TogoVar
ATR_chr3_142444235_142583733	142496278	CTATATAT others(22): Show CTATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00738.hp1 HG01123.hp2 others(9): Show HG00642.hp2 HG00738.hp1 HG01123.hp2 HG01884.hp1 HG02109.hp2 HG02559.hp1 HG02572.hp2 HG02717.hp1 HG02970.hp1 HG02976.hp1 HG03209.hp2 HG03540.hp1	a0001 a0010 a0001 a0010	a0001c0006 a0010c0014 a0001c0006 a0010c0014	a0001c0006t0001 a0010c0014t0001 a0001c0006t0001 a0010c0014t0001	a0001c0006t0001g0006 a0001c0006t0001g0007 a0001c0006t0001g0008 others(9): Show a0001c0006t0001g0006 a0001c0006t0001g0007 a0001c0006t0001g0008 a0001c0006t0001g0009 a0001c0006t0001g0010 a0001c0006t0001g0011 a0001c0006t0001g0012 a0001c0006t0001g0013 a0001c0006t0001g0014 a0001c0006t0001g0015 a0001c0006t0001g0018 a0010c0014t0001g0031	12	322	0.0373	-29	c.589 others(44): Show c.5898+54_5898+82delATATATATATATATATATATATATATATA	ATR	ENSG00000175054.16	transcript	ENST00000350721.9	protein_coding	34/46			chr3	TogoVar
ATXN10_chr22_45666834_45850307	45753377	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	316	0.0032	-29	c.117 others(50): Show c.1173+12859_1173+12887delTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ATXN10	ENSG00000130638.18	transcript	ENST00000252934.10	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
ATXN1_chr6_16294112_16766460	16494078	GGAGAGGC others(22): Show GGAGAGGCATCTCCAGTGCAGGGCTGGACT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp1 others(149): Show HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02056.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03688.hp1 HG03688.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18986.hp1 NA18993.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp2 NA19060.hp1 NA19062.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(32): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0034 a0035 a0037 a0038	a0001c0001 a0001c0027 a0001c0028 others(53): Show a0001c0001 a0001c0027 a0001c0028 a0001c0029 a0001c0052 a0002c0002 a0002c0004 a0003c0003 a0003c0050 a0003c0051 a0004c0005 a0004c0015 a0004c0023 a0004c0031 a0005c0006 a0005c0060 a0006c0008 a0006c0043 a0006c0046 a0007c0009 a0007c0059 a0008c0012 a0008c0024 a0009c0016 a0009c0025 a0009c0042 a0010c0010 a0010c0039 a0011c0007 a0012c0011 a0013c0013 a0013c0038 a0014c0017 a0015c0030 a0016c0014 a0017c0022 a0017c0040 a0018c0054 a0018c0056 a0019c0026 a0020c0020 a0021c0021 a0023c0034 a0024c0018 a0025c0062 a0026c0061 a0027c0049 a0028c0053 a0029c0057 a0030c0058 a0031c0048 a0032c0045 a0034c0047 a0035c0036 a0037c0032 a0038c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(94): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0020 a0001c0001t0029 a0001c0001t0030 a0001c0027t0001 a0001c0028t0015 a0001c0029t0039 a0001c0029t0048 a0001c0052t0047 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0002c0002t0008 a0002c0002t0009 a0002c0002t0010 a0002c0002t0016 a0002c0002t0041 a0002c0002t0043 a0002c0004t0001 a0002c0004t0017 a0003c0003t0001 a0003c0003t0002 a0003c0003t0009 a0003c0003t0013 a0003c0003t0022 a0003c0003t0037 a0003c0050t0045 a0003c0051t0010 a0004c0005t0002 a0004c0015t0001 a0004c0023t0002 a0004c0023t0009 a0004c0031t0002 a0005c0006t0003 a0005c0006t0006 a0005c0006t0009 a0005c0060t0006 a0006c0008t0002 a0006c0008t0010 a0006c0008t0011 a0006c0008t0040 a0006c0008t0046 a0006c0043t0010 a0006c0046t0001 a0007c0009t0002 a0007c0009t0035 a0007c0009t0049 a0007c0059t0012 a0008c0012t0005 a0008c0024t0001 a0009c0016t0001 a0009c0016t0007 a0009c0016t0028 a0009c0025t0031 a0009c0025t0033 a0009c0042t0011 a0010c0010t0006 a0010c0039t0001 a0011c0007t0002 a0011c0007t0003 a0012c0011t0004 a0012c0011t0023 a0013c0013t0005 a0013c0013t0016 a0013c0038t0034 a0014c0017t0004 a0014c0017t0025 a0015c0030t0014 a0016c0014t0007 a0016c0014t0012 a0016c0014t0027 a0017c0022t0001 a0017c0040t0007 a0018c0054t0001 a0018c0056t0007 a0019c0026t0001 a0019c0026t0019 a0020c0020t0026 a0021c0021t0004 a0023c0034t0002 a0024c0018t0012 a0025c0062t0038 a0026c0061t0036 a0027c0049t0003 a0028c0053t0004 a0029c0057t0001 a0030c0058t0018 a0031c0048t0042 a0032c0045t0018 a0034c0047t0002 a0035c0036t0007 a0037c0032t0002 a0038c0033t0002	a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0045 others(149): Show a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0083 a0001c0001t0001g0103 a0001c0001t0001g0108 a0001c0001t0001g0123 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0002g0076 a0001c0001t0002g0129 a0001c0001t0005g0085 a0001c0001t0011g0131 a0001c0001t0020g0002 a0001c0001t0029g0145 a0001c0001t0030g0021 a0001c0027t0001g0024 a0001c0027t0001g0107 a0001c0028t0015g0017 a0001c0028t0015g0125 a0001c0029t0039g0041 a0001c0029t0048g0031 a0001c0052t0047g0060 a0002c0002t0001g0071 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0003g0007 a0002c0002t0003g0061 a0002c0002t0003g0133 a0002c0002t0007g0136 a0002c0002t0008g0063 a0002c0002t0008g0081 a0002c0002t0008g0116 a0002c0002t0008g0140 a0002c0002t0009g0094 a0002c0002t0010g0015 a0002c0002t0016g0111 a0002c0002t0041g0079 a0002c0002t0043g0175 a0002c0004t0001g0046 a0002c0004t0001g0073 a0002c0004t0001g0080 a0002c0004t0001g0084 a0002c0004t0001g0093 a0002c0004t0001g0174 a0002c0004t0001g0182 a0002c0004t0017g0121 a0003c0003t0001g0039 a0003c0003t0001g0042 a0003c0003t0001g0049 a0003c0003t0001g0180 a0003c0003t0002g0120 a0003c0003t0009g0055 a0003c0003t0013g0033 a0003c0003t0022g0119 a0003c0003t0037g0150 a0003c0050t0045g0147 a0003c0051t0010g0173 a0004c0005t0002g0072 a0004c0005t0002g0075 a0004c0005t0002g0096 a0004c0005t0002g0122 a0004c0005t0002g0160 a0004c0005t0002g0167 a0004c0005t0002g0177 a0004c0015t0001g0152 a0004c0015t0001g0157 a0004c0015t0001g0176 a0004c0023t0002g0035 a0004c0023t0009g0110 a0004c0031t0002g0101 a0005c0006t0003g0051 a0005c0006t0003g0057 a0005c0006t0003g0070 a0005c0006t0003g0166 a0005c0006t0006g0010 a0005c0006t0009g0163 a0005c0060t0006g0132 a0006c0008t0002g0013 a0006c0008t0002g0137 a0006c0008t0010g0038 a0006c0008t0011g0053 a0006c0008t0040g0154 a0006c0008t0046g0062 a0006c0043t0010g0128 a0006c0046t0001g0012 a0007c0009t0002g0028 a0007c0009t0002g0056 a0007c0009t0002g0126 a0007c0009t0002g0164 a0007c0009t0035g0018 a0007c0009t0049g0005 a0007c0059t0012g0030 a0008c0012t0005g0091 a0008c0012t0005g0092 a0008c0012t0005g0168 a0008c0024t0001g0074 a0008c0024t0001g0143 a0009c0016t0001g0034 a0009c0016t0007g0151 a0009c0016t0028g0141 a0009c0025t0031g0058 a0009c0025t0033g0165 a0009c0042t0011g0047 a0010c0010t0006g0008 a0010c0010t0006g0014 a0010c0010t0006g0052 a0010c0010t0006g0112 a0010c0010t0006g0113 a0010c0039t0001g0181 a0011c0007t0002g0040 a0011c0007t0002g0097 a0011c0007t0002g0162 a0011c0007t0002g0169 a0011c0007t0003g0066 a0012c0011t0004g0086 a0012c0011t0004g0144 a0012c0011t0004g0161 a0012c0011t0023g0023 a0013c0013t0005g0036 a0013c0013t0016g0153 a0013c0038t0034g0139 a0014c0017t0004g0044 a0014c0017t0004g0171 a0014c0017t0025g0142 a0015c0030t0014g0102 a0016c0014t0007g0155 a0016c0014t0012g0135 a0016c0014t0027g0134 a0017c0022t0001g0104 a0017c0022t0001g0146 a0017c0040t0007g0022 a0018c0054t0001g0115 a0018c0056t0007g0011 a0019c0026t0001g0098 a0019c0026t0019g0001 a0020c0020t0026g0088 a0021c0021t0004g0069 a0023c0034t0002g0124 a0024c0018t0012g0148 a0025c0062t0038g0087 a0026c0061t0036g0095 a0027c0049t0003g0149 a0028c0053t0004g0065 a0029c0057t0001g0016 a0030c0058t0018g0054 a0031c0048t0042g0026 a0032c0045t0018g0059 a0034c0047t0002g0029 a0035c0036t0007g0019 a0037c0032t0002g0170 a0038c0033t0002g0004	152	182	0.8352	-29	c.-29 others(48): Show c.-298-7998_-298-7970delAGTCCAGCCCTGCACTGGAGATGCCT CTC	ATXN1	ENSG00000124788.19	transcript	ENST00000436367.6	protein_coding	5/7			chr6	TogoVar
ATXN7L1_chr7_105599772_105881599	105619524	ATATATAT others(22): Show ATATATATTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01433.hp1 HG00323.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0239 a0001c0001t0005g0182 a0001c0001t0002g0239 a0001c0001t0005g0182	2	252	0.0079	-29	c.151 others(46): Show c.1517+647_1517+675delAAAAAAAAAAAAAAAAAAAAAAATATAT A	ATXN7L1	ENSG00000146776.15	transcript	ENST00000419735.8	protein_coding	9/11			chr7	TogoVar
ATXN7L3B_chr12_74532835_74550430	74533855	AAAATAAA others(22): Show AAAATAAAAATAAAAAAAAAATAAATAAAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00621.hp1 HG03831.hp1 others(9): Show HG00544.hp2 HG00621.hp1 HG03831.hp1 NA18612.hp1 NA18943.hp1 NA18992.hp2 NA18993.hp2 NA18997.hp2 NA19066.hp1 NA19068.hp2 NA19075.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	12	408	0.0294	-29	c.-42 others(40): Show c.-4257_-4229delAAATAAAAATAAAAAAAAAATAAATAAAT	ATXN7L3B	ENSG00000253719.4	transcript	ENST00000519948.4	protein_coding		3979		chr12	TogoVar
AUTS2_chr7_69593475_70798506	69912318	GTCTGGAG others(22): Show GTCTGGAGCCACAGCTGGGCAGCTGCATGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01175.hp2 others(16): Show HG00099.hp2 HG01081.hp2 HG01175.hp2 HG01952.hp2 HG02055.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02717.hp2 HG02886.hp2 HG03017.hp2 HG03041.hp1 HG03139.hp2 HG03225.hp1 HG03540.hp2 HG03579.hp1 HG03704.hp1 HG04199.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0002c0002 a0002c0010	a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 others(11): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0028 a0001c0001t0029 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0003t0027 a0001c0005t0030 a0002c0002t0024 a0002c0002t0026 a0002c0002t0031 a0002c0002t0036 a0002c0010t0033	a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 others(16): Show a0001c0001t0005g0005 a0001c0001t0005g0012 a0001c0001t0005g0015 a0001c0001t0005g0020 a0001c0001t0009g0006 a0001c0001t0009g0008 a0001c0001t0009g0023 a0001c0001t0028g0021 a0001c0001t0029g0022 a0001c0001t0032g0016 a0001c0001t0034g0018 a0001c0001t0035g0019 a0001c0003t0027g0009 a0001c0005t0030g0013 a0002c0002t0024g0059 a0002c0002t0026g0011 a0002c0002t0031g0007 a0002c0002t0036g0017 a0002c0010t0033g0014	19	76	0.2500	-29	c.522 others(48): Show c.522+12821_522+12849delTCTGGAGCCACAGCTGGGCAGCTGCA TGT	AUTS2	ENSG00000158321.19	transcript	ENST00000342771.10	protein_coding	2/18			chr7	TogoVar
AVPI1_chr10_97672424_97692241	97678910	TGTGTGTG others(22): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03927.hp2 NA18948.hp2 others(2): Show HG00544.hp2 HG03927.hp2 NA18948.hp2 NA18968.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0315 a0001c0001t0001g0318 others(2): Show a0001c0001t0001g0263 a0001c0001t0001g0315 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0322	5	446	0.0112	-29	c.287 others(44): Show c.287+680_287+708delCACACACACACACACACACACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AVPI1_chr10_97672424_97692241	97678912	TGTGTGTG others(22): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp2 HG04115.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	2	446	0.0045	-29	c.287 others(44): Show c.287+678_287+706delCACACACACACACACACACACACACACAC	AVPI1	ENSG00000119986.7	transcript	ENST00000370626.4	protein_coding	2/2			chr10	TogoVar
AXDND1_chr1_179360971_179559735	179425529	TGGTCTCC others(22): Show TGGTCTCCTGCCAAGGAATCAACATGATGG	T T	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0331 a0002c0001t0001g0331	1	356	0.0028	-29	c.123 others(48): Show c.1231-3931_1231-3903delGGGTCTCCTGCCAAGGAATCAACATG ATG	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXDND1_chr1_179360971_179559735	179488632	CTCCTTTC others(22): Show CTCCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0202 a0001c0007t0001g0202	1	356	0.0028	-29	c.209 others(48): Show c.2092-2903_2092-2875delCTTTCTTTCTTTCTTTCTTTCTTTCT TTC	AXDND1	ENSG00000162779.22	transcript	ENST00000367618.8	protein_coding	18/25		INFO_REALIGN_3_PRIME	chr1	TogoVar
AXIN1_chr16_282440_357723	285902	TCCCAACC others(22): Show TCCCAACCCCAACCCCGCGGTTCTCCCAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG02622.hp1 others(10): Show HG01243.hp2 HG01891.hp2 HG02622.hp1 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG03041.hp1 HG03195.hp1 HG03453.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0084 others(10): Show a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0330	13	378	0.0344	-29	c.21 others(40): Show c.2191_*2219delGTTGGGAGAACCGCGGGGTTGGGGTTGGG	AXIN1	ENSG00000103126.15	transcript	ENST00000262320.8	protein_coding		1537		chr16	TogoVar
AZU1_chr19_822837_837018	835153	GGGGCCAC others(22): Show GGGGCCACGTTCGGTCATGAGGGTCCCCCT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0003	1	391	0.0026	-29	c.32 others(40): Show c.3277_*3305delGGGCCACGTTCGGTCATGAGGGTCCCCCT	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3136		chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	83004004	ATGTGGGA others(22): Show ATGTGGGATTCCTGAGCCCGCCCTCCCGCC	A A	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02135.hp2 HG03209.hp1 others(1): Show HG01261.hp2 HG02135.hp2 HG03209.hp1 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008	a0001c0001t0010 a0001c0002t0006 a0001c0003t0009 others(1): Show a0001c0001t0010 a0001c0002t0006 a0001c0003t0009 a0001c0008t0038	a0001c0001t0010g0185 a0001c0002t0006g0071 a0001c0003t0009g0204 others(1): Show a0001c0001t0010g0185 a0001c0002t0006g0071 a0001c0003t0009g0204 a0001c0008t0038g0215	4	266	0.0150	-29	c.459 others(46): Show c.459+1082_459+1110delGGCGGGAGGGCGGGCTCAGGAATCCCAC A	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	6/12			chr17	TogoVar
BAIAP2_chr17_81030151_81122434	81074613	GTGAGTGC others(22): Show GTGAGTGCCTGTGTGCGTGCACGGATGCGT	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02615.hp2 HG02622.hp2 others(1): Show HG01261.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0005 a0001c0006t0010 a0001c0003t0005 a0001c0006t0010	a0001c0003t0005g0297 a0001c0006t0010g0010 a0001c0006t0010g0318 others(1): Show a0001c0003t0005g0297 a0001c0006t0010g0010 a0001c0006t0010g0318 a0001c0006t0010g0320	4	376	0.0106	-29	c.218 others(48): Show c.218-10209_218-10181delGTGTGCGTGCACGGATGCGTTGAGTG CCT	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BAIAP3_chr16_1328645_1354439	1339874	CACACGCA others(22): Show CACACGCACACAGGCTGCAGGTGCACACAG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02698.hp2 HG02280.hp2 HG02698.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0010 a0001c0003 a0002c0010	a0001c0003t0003 a0002c0010t0002 a0001c0003t0003 a0002c0010t0002	a0001c0003t0003g0154 a0002c0010t0002g0090 a0001c0003t0003g0154 a0002c0010t0002g0090	2	358	0.0056	-29	c.408 others(44): Show c.408+332_408+360delACGCACACAGGCTGCAGGTGCACACAGAC	BAIAP3	ENSG00000007516.15	transcript	ENST00000426824.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr16	TogoVar
BANK1_chr4_101785730_102079812	101839937	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02723.hp2 HG02809.hp2 others(2): Show HG02647.hp2 HG02723.hp2 HG02809.hp2 HG03471.hp1 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0166 a0001c0002t0003g0249 a0001c0002t0003g0250 others(2): Show a0001c0002t0003g0166 a0001c0002t0003g0249 a0001c0002t0003g0250 a0001c0002t0003g0251 a0001c0002t0003g0253	5	284	0.0176	-29	c.469 others(46): Show c.469+9752_469+9780delTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	BANK1	ENSG00000153064.12	transcript	ENST00000322953.9	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr4	TogoVar
BANP_chr16_87946434_88082316	88019581	GGGATCTC others(22): Show GGGATCTCGGCGTGCGGGATCTCAGCGTGC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0329 a0001c0002t0002g0329	1	352	0.0028	-29	c.895 others(44): Show c.895+917_895+945delATCTCGGCGTGCGGGATCTCAGCGTGCGG	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BAZ2A_chr12_56590596_56635326	56597571	CACACACA others(22): Show CACACACACACAGCGCGCGCTCTGAGGCTG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0044 a0001c0003t0044	a0001c0003t0044g0234 a0001c0003t0044g0234	1	316	0.0032	-29	c.10 others(40): Show c.1018_*1046delCAGCCTCAGAGCGCGCGCTGTGTGTGTGT	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29	1018		chr12	TogoVar
BAZ2A_chr12_56590596_56635326	56597608	CACACACA others(22): Show CACACACACACACAGCGCGCTCTGAGGCCG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02486.hp2 HG03130.hp2 HG03209.hp1 HG02486.hp2 HG03130.hp2 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0020 a0001c0003t0020	a0001c0003t0020g0022 a0001c0003t0020g0232 a0001c0003t0020g0022 a0001c0003t0020g0232	3	316	0.0095	-29	c.98 others(39): Show c.981_*1009delCGGCCTCAGAGCGCGCTGTGTGTGTGTGT	BAZ2A	ENSG00000076108.12	transcript	ENST00000549884.6	protein_coding	29/29	981		chr12	TogoVar
BBS5_chr2_169474494_169511655	169489851	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0223 a0001c0001t0004g0223	1	398	0.0025	-29	c.386 others(46): Show c.386+1750_386+1778delTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	BBS5	ENSG00000163093.12	transcript	ENST00000295240.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
BCL2L10_chr15_52104263_52117775	52112745	GGGCCGGG others(22): Show GGGCCGGGCCTTCGCTGGTTTTCTTGGCCC	G G	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0064 a0002c0002t0010g0064	1	458	0.0022	-29	c.-48 others(36): Show c.-48_-20delGGGCCAAGAAAACCAGCGAAGGCCCGGCC	BCL2L10	ENSG00000137875.4	transcript	ENST00000260442.3	protein_coding	1/2	20		chr15	TogoVar
BCL2L13_chr22_17633757_17735855	17715141	TATATATA others(22): Show TATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA19003.hp2 NA18979.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0117 a0001c0001t0011g0180 a0001c0001t0005g0117 a0001c0001t0011g0180	2	306	0.0065	-29	c.601 others(48): Show c.601-11535_601-11507delATATATATATATATATATATATATAT ATA	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6			chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715142	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA18522.hp2 HG03041.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0013 a0001c0001t0017g0019 a0001c0001t0017g0013 a0001c0001t0017g0019	2	306	0.0065	-29	c.601 others(48): Show c.601-11533_601-11505delATATATATATATATATATATATATAT ATT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715144	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03130.hp1 HG03540.hp2 HG02109.hp1 HG03130.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0017 a0001c0001t0064 a0001c0001t0005 a0001c0001t0017 a0001c0001t0064	a0001c0001t0005g0143 a0001c0001t0017g0020 a0001c0001t0064g0304 a0001c0001t0005g0143 a0001c0001t0017g0020 a0001c0001t0064g0304	3	306	0.0098	-29	c.601 others(48): Show c.601-11531_601-11503delATATATATATATATATATATATATAT TTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715146	ATATATAT others(22): Show ATATATATATATATATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0149 a0001c0001t0005g0149	1	306	0.0033	-29	c.601 others(48): Show c.601-11529_601-11501delATATATATATATATATATATATATTT TTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715148	ATATATAT others(22): Show ATATATATATATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0125 a0001c0001t0057g0125	1	306	0.0033	-29	c.601 others(48): Show c.601-11527_601-11499delATATATATATATATATATATATTTTT TTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2L13_chr22_17633757_17735855	17715150	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0196 a0001c0001t0002g0196	1	306	0.0033	-29	c.601 others(48): Show c.601-11525_601-11497delATATATATATATATATATATTTTTTT TTT	BCL2L13	ENSG00000099968.18	transcript	ENST00000317582.10	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
BCL2_chr18_63118346_63324769	63169307	TCTTCCTT others(22): Show TCTTCCTTCCTTCCTTCTTTCCTTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01070.hp1 HG01071.hp2 others(14): Show HG00639.hp1 HG01070.hp1 HG01071.hp2 HG01433.hp2 HG01978.hp2 HG02258.hp1 HG02572.hp2 HG02698.hp1 HG02897.hp1 HG02897.hp2 HG03486.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18957.hp1 NA19011.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0022 a0001c0002t0002 a0001c0002t0011 a0001c0002t0034 a0001c0004t0031	a0001c0001t0001g0112 a0001c0001t0001g0134 a0001c0001t0001g0178 others(14): Show a0001c0001t0001g0112 a0001c0001t0001g0134 a0001c0001t0001g0178 a0001c0001t0003g0144 a0001c0001t0003g0171 a0001c0001t0004g0146 a0001c0001t0005g0115 a0001c0001t0008g0034 a0001c0001t0010g0138 a0001c0001t0010g0189 a0001c0001t0011g0033 a0001c0001t0022g0181 a0001c0002t0002g0049 a0001c0002t0011g0070 a0001c0002t0011g0071 a0001c0002t0034g0072 a0001c0004t0031g0036	17	264	0.0644	-29	c.586 others(48): Show c.586-40577_586-40549delGAAGGAAAGGAAAGAAGGAAGGAAGG AAG	BCL2	ENSG00000171791.14	transcript	ENST00000333681.5	protein_coding	2/2			chr18	TogoVar
BCL3_chr19_44743708_44765044	44750342	AGGCTGGA others(22): Show AGGCTGGAGTGCATTGGCGTGATCTCGGCT	A A	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0118	1	344	0.0029	-29	c.257 others(44): Show c.257-884_257-856delGGCTGGAGTGCATTGGCGTGATCTCGGCT	BCL3	ENSG00000069399.15	transcript	ENST00000164227.10	protein_coding	1/8			chr19	TogoVar
BCORL1_chrX_129977635_130063071	130043758	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0171 a0002c0004t0001g0171	1	203	0.0049	-29	c.484 others(48): Show c.4840+4478_4840+4506delATATATATATATATATATATATATAT TTT	BCORL1	ENSG00000085185.16	transcript	ENST00000540052.6	protein_coding	11/13		INFO_REALIGN_3_PRIME	chrX	TogoVar
BDH1_chr3_197504783_197560968	197510655	TGTGTGTG others(22): Show TGTGTGTGTGTGTGTGTACATGTGTGTAAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp2 HG01346.hp2 HG03041.hp2 HG00741.hp2 HG01346.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0144 a0001c0001t0145 a0001c0001t0157 a0001c0001t0144 a0001c0001t0145 a0001c0001t0157	a0001c0001t0144g0171 a0001c0001t0145g0285 a0001c0001t0157g0227 a0001c0001t0144g0171 a0001c0001t0145g0285 a0001c0001t0157g0227	3	319	0.0094	-29	c.12 others(40): Show c.1211_*1239delCTTACACACATGTACACACACACACACAC	BDH1	ENSG00000161267.12	transcript	ENST00000392379.6	protein_coding	8/8	1211		chr3	TogoVar
BDP1_chr5_71450651_71572820	71451128	CACACACA others(22): Show CACACACACACACACACACACACACACACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG03453.hp2 HG00733.hp1 HG03453.hp2	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0001 a0016c0014t0001	a0016c0014t0001g0004 a0016c0014t0001g0005 a0016c0014t0001g0004 a0016c0014t0001g0005	2	325	0.0062	-29	c.-47 others(40): Show c.-4749_-4721delACACACACACACACACACACACACACACA	BDP1	ENSG00000145734.20	transcript	ENST00000358731.9	protein_coding		4522		chr5	TogoVar
BHLHA9_chr17_1265444_1276815	1275009	CCCCGTCT others(22): Show CCCCGTCTCCACTAAACAAACAAAAATTAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	1	442	0.0023	-29	c.37 others(40): Show c.3739_*3767delCCCGTCTCCACTAAACAAACAAAAATTAG	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		3195		chr17	TogoVar
BHLHA9_chr17_1265444_1276815	1276786	CGTGAGCC others(22): Show CGTGAGCCACCGTGCCCAGCCTGAAACCCC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18992.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	442	0.0023	-29	c.55 others(40): Show c.5516_*5544delGTGAGCCACCGTGCCCAGCCTGAAACCCC	BHLHA9	ENSG00000205899.4	transcript	ENST00000391429.2	protein_coding		4972		chr17	TogoVar
BICRAL_chr6_42777052_42873556	42845195	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	270	0.0037	-29	c.184 others(48): Show c.1840-6872_1840-6844delTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	BICRAL	ENSG00000112624.14	transcript	ENST00000314073.10	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
BID_chr22_17729138_17779469	17756406	TTTTCTCT others(22): Show TTTTCTCTTTCTTTCTTTCTTTCTTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02970.hp2 HG03098.hp2 others(2): Show HG02630.hp1 HG02970.hp2 HG03098.hp2 HG03579.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0128 a0001c0001t0003g0143 a0001c0001t0003g0185 others(2): Show a0001c0001t0003g0128 a0001c0001t0003g0143 a0001c0001t0003g0185 a0001c0001t0003g0186 a0001c0001t0003g0337	5	362	0.0138	-29	c.-58 others(46): Show c.-58-6261_-58-6233delGAAGAAAGAAAGAAAGAAAGAAAGAGAA A	BID	ENSG00000015475.19	transcript	ENST00000622694.5	protein_coding	1/5			chr22	TogoVar
BIN2_chr12_51276038_51329174	51295576	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0368 a0003c0003t0001g0368	1	400	0.0025	-29	c.761 others(44): Show c.761+191_761+219delATATATATATATATATATATATATATATT	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	9/12			chr12	TogoVar
BIN2_chr12_51276038_51329174	51295578	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02145.hp2 HG02922.hp1 others(3): Show HG01167.hp1 HG02145.hp2 HG02922.hp1 HG03471.hp2 NA19240.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0003 a0001c0001 a0001c0004 a0003c0003	a0001c0001t0001 a0001c0004t0001 a0003c0003t0001 a0001c0001t0001 a0001c0004t0001 a0003c0003t0001	a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0004t0001g0347 others(3): Show a0001c0001t0001g0372 a0001c0001t0001g0373 a0001c0004t0001g0347 a0003c0003t0001g0369 a0003c0003t0001g0370 a0003c0003t0001g0371	6	400	0.0150	-29	c.761 others(44): Show c.761+189_761+217delATATATATATATATATATATATATATATA	BIN2	ENSG00000110934.13	transcript	ENST00000615107.6	protein_coding	9/12			chr12	TogoVar
BIN3_chr8_22615418_22674121	22645575	GGCGAGGA others(22): Show GGCGAGGATGGCAGGAAAGGGAAGACACCC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00733.hp2 HG00738.hp2 others(44): Show HG00438.hp2 HG00733.hp2 HG00738.hp2 HG01099.hp2 HG02004.hp2 HG02056.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03579.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18951.hp1 NA18955.hp1 NA18956.hp1 NA18959.hp2 NA18970.hp2 NA18974.hp2 NA18986.hp1 NA18987.hp2 NA18993.hp2 NA18998.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp2 NA19060.hp1 NA19078.hp1 NA19083.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0006 a0001c0001 a0001c0002 a0004c0006	a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 others(12): Show a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0002t0001 a0004c0006t0006	a0001c0001t0004g0014 a0001c0001t0004g0208 a0001c0001t0004g0209 others(42): Show a0001c0001t0004g0014 a0001c0001t0004g0208 a0001c0001t0004g0209 a0001c0001t0004g0210 a0001c0001t0004g0211 a0001c0001t0006g0306 a0001c0001t0006g0307 a0001c0001t0006g0308 a0001c0001t0006g0309 a0001c0001t0006g0312 a0001c0001t0006g0313 a0001c0001t0006g0316 a0001c0001t0006g0317 a0001c0001t0006g0318 a0001c0001t0007g0292 a0001c0001t0007g0321 a0001c0001t0007g0322 a0001c0001t0007g0323 a0001c0001t0007g0324 a0001c0001t0007g0325 a0001c0001t0007g0326 a0001c0001t0007g0327 a0001c0001t0008g0016 a0001c0001t0008g0226 a0001c0001t0008g0227 a0001c0001t0008g0229 a0001c0001t0008g0230 a0001c0001t0010g0102 a0001c0001t0010g0103 a0001c0001t0010g0104 a0001c0001t0010g0105 a0001c0001t0011g0305 a0001c0001t0011g0310 a0001c0001t0011g0314 a0001c0001t0011g0319 a0001c0001t0012g0129 a0001c0001t0015g0311 a0001c0001t0017g0276 a0001c0001t0017g0277 a0001c0001t0018g0101 a0001c0001t0019g0244 a0001c0001t0021g0228 a0001c0001t0022g0130 a0001c0002t0001g0289 a0004c0006t0006g0315	47	386	0.1218	-29	c.9-8 others(40): Show c.9-801_9-773delGGGTGTCTTCCCTTTCCTGCCATCCTCGC	BIN3	ENSG00000147439.14	transcript	ENST00000276416.11	protein_coding	1/8			chr8	TogoVar
BIRC2_chr11_102342214_102383670	102342358	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp2 HG01099.hp1 HG01109.hp1 others(5): Show HG00738.hp2 HG01099.hp1 HG01109.hp1 HG02109.hp1 HG02965.hp1 HG03139.hp1 HG03486.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0007 a0001c0001t0001g0035 a0001c0001t0001g0123 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0035 a0001c0001t0001g0123 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0008g0279	8	344	0.0233	-29	c.-62 others(40): Show c.-6275_-6247delTATATATATATATATATATATATATATAT	BIRC2	ENSG00000110330.10	transcript	ENST00000227758.7	protein_coding		4855		chr11	TogoVar
BIRC3_chr11_102312484_102344403	102342358	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01099.hp2 HG01109.hp2 others(6): Show HG00738.hp1 HG01099.hp2 HG01109.hp2 HG01243.hp1 HG02109.hp1 HG02965.hp2 HG03139.hp1 HG03486.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0028	a0001c0001t0003g0043 a0001c0001t0003g0055 a0001c0001t0006g0001 others(2): Show a0001c0001t0003g0043 a0001c0001t0003g0055 a0001c0001t0006g0001 a0001c0001t0008g0050 a0001c0001t0028g0001	9	384	0.0234	-29	c.52 others(40): Show c.5257_*5285delTATATATATATATATATATATATATATAT	BIRC3	ENSG00000023445.17	transcript	ENST00000263464.9	protein_coding		2956		chr11	TogoVar
BIRC6_chr2_32352023_32623878	32369938	AAAAAAAA others(22): Show AAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0011 a0011	a0011c0028 a0011c0028	a0011c0028t0002 a0011c0028t0002	a0011c0028t0002g0179 a0011c0028t0002g0179	1	274	0.0037	-29	c.326 others(46): Show c.326-7648_326-7620delAAAAAAATATATATATATATATATATAT A	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	1/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BIRC6_chr2_32352023_32623878	32369940	AAAAAAAT others(22): Show AAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0060 a0001c0008t0003g0060	1	274	0.0037	-29	c.326 others(46): Show c.326-7646_326-7618delAAAAATATATATATATATATATATATAT A	BIRC6	ENSG00000115760.16	transcript	ENST00000421745.7	protein_coding	1/73		INFO_REALIGN_3_PRIME	chr2	TogoVar
BLK_chr8_11489387_11569599	11504363	GGAAGAAA others(22): Show GGAAGAAAGAAAAGAAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01106.hp2 HG01496.hp2 others(3): Show HG00323.hp1 HG01106.hp2 HG01496.hp2 HG03195.hp2 NA18522.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0003 a0001c0005t0009 a0001c0002t0003 a0001c0005t0009	a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0272 others(3): Show a0001c0002t0003g0270 a0001c0002t0003g0271 a0001c0002t0003g0272 a0001c0005t0009g0242 a0001c0005t0009g0243 a0001c0005t0009g0244	6	308	0.0195	-29	c.-2+ others(44): Show c.-2+9773_-2+9801delGAAGAAAGAAAAGAAAAGAAAAGAAAAGA	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	1/12			chr8	TogoVar
BLK_chr8_11489387_11569599	11556027	CCTCCCTT others(22): Show CCTCCCTTACCTGGGGCTGGTCCATGAGTG	C C	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0259 a0001c0001t0005g0259	1	308	0.0033	-29	c.772 others(44): Show c.772+562_773-584delGTCCATGAGTGCTCCCTTACCTGGGGCTG	BLK	ENSG00000136573.16	transcript	ENST00000259089.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr8	TogoVar

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