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 limited to 10,000 hits. Refine your search for more specific results.

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
ARHGAP20_chr11_110572043_110717437	110648174	TATATATA others(73): Show TATATATATATATATGTAAATATATATATATATGTAAATATATATATGTA TATATATATATATGTAAATATATATATGTAA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0015 a0011c0018t0015	a0011c0018t0015g0007 a0011c0018t0015g0007	1	226	0.0044	-80	c.189 others(99): Show c.189-17462_189-17383delTTACATATATATATTTACATATATAT ATATATACATATATATATTTACATATATATATATATTTACATATATATAT ATAT	ARHGAP20	ENSG00000137727.13	transcript	ENST00000683387.1	protein_coding	2/14			chr11	TogoVar
ARHGAP21_chr10_24578614_24728887	24655992	GAGAAGTG others(73): Show GAGAAGTGAGGAGCCCCTCCGCCCGGCAGCTGCCCCGTCTGAGAAGTGAG GAGCCCCTCCGCCCGGCAGCTGCCCCGTCTA	G G	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02922.hp1 HG03041.hp1 others(1): Show HG02615.hp1 HG02922.hp1 HG03041.hp1 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0020 a0002c0002t0001g0138 a0002c0002t0001g0139 others(1): Show a0002c0002t0001g0020 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0140	4	352	0.0114	-80	c.268 others(99): Show c.268+10913_268+10992delTAGACGGGGCAGCTGCCGGGCGGAGG GGCTCCTCACTTCTCAGACGGGGCAGCTGCCGGGCGGAGGGGCTCCTCAC TTCT	ARHGAP21	ENSG00000107863.20	transcript	ENST00000396432.7	protein_coding	4/25			chr10	TogoVar
ARHGAP39_chr8_144524179_144690846	144620226	TGTGTGTG others(73): Show TGTGTGTGCCCGTGTCTGTTAGCCTGTGTGTCCAAGGGAGCGTGTGTGCC CGTGTCTGTTAGCCTGTGTGTCCAAGGGAGC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01099.hp1 HG02258.hp2 others(6): Show HG01074.hp2 HG01099.hp1 HG02258.hp2 HG02615.hp2 HG03209.hp1 HG04204.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0007t0003	a0001c0001t0001g0202 a0001c0001t0001g0228 a0001c0001t0002g0131 others(6): Show a0001c0001t0001g0202 a0001c0001t0001g0228 a0001c0001t0002g0131 a0001c0001t0003g0023 a0001c0002t0001g0082 a0001c0002t0001g0085 a0001c0002t0001g0119 a0001c0002t0001g0133 a0001c0007t0003g0118	9	246	0.0366	-80	c.-81 others(99): Show c.-81-14611_-81-14532delGCTCCCTTGGACACACAGGCTAACAG ACACGGGCACACACGCTCCCTTGGACACACAGGCTAACAGACACGGGCAC ACAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144620428	TGTGTGCC others(73): Show TGTGTGCCCGTGTCTGTTAGCCTGTGTGTCCAAGGGAGCGTGTGTGCCCG TGTCTGTTAGCCTGTGTGTCCAAGGGAGCAC	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01358.hp1 HG02004.hp2 others(2): Show HG01071.hp1 HG01358.hp1 HG02004.hp2 HG02293.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0027 a0001c0001t0001g0196 a0001c0001t0001g0198 others(2): Show a0001c0001t0001g0027 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0213 a0001c0001t0021g0062	5	246	0.0203	-80	c.-81 others(99): Show c.-81-14813_-81-14734delGTGCTCCCTTGGACACACAGGCTAAC AGACACGGGCACACACGCTCCCTTGGACACACAGGCTAACAGACACGGGC ACAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARL17A_chr17_46547756_46584691	46558733	TTGAACAC others(73): Show TTGAACACCCTTGGATGCTGCTTTAAATGACTGATCCTCGATGCCTCCCT TCTAACTCACACTCCCCTATATCAATCTCCC	T T	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0028 a0001c0001t0006g0028	1	146	0.0069	-80	c.260 others(97): Show c.260-1183_260-1104delGGGAGATTGATATAGGGGAGTGTGAGTT AGAAGGGAGGCATCGAGGATCAGTCATTTAAAGCAGCATCCAAGGGTGTT CA	ARL17A	ENSG00000185829.19	transcript	ENST00000336125.6	protein_coding	3/3			chr17	TogoVar
ASIC2_chr17_33008087_33298295	33269671	CTTCCCTC others(73): Show CTTCCCTCCCTCCCTCCTGCCTGCCTGCCTGCCTGCCTGCCTTTCCTCCC TTCCTCCCTCCCTCCTTCCTTCCTTCCTTCT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01346.hp2 HG02818.hp2 HG01081.hp1 HG01346.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0012 a0001c0001t0003 a0001c0002t0012	a0001c0001t0003g0036 a0001c0001t0003g0049 a0001c0002t0012g0086 a0001c0001t0003g0036 a0001c0001t0003g0049 a0001c0002t0012g0086	3	240	0.0125	-80	c.708 others(99): Show c.708+21657_708+21736delAGAAGGAAGGAAGGAAGGAGGGAGGG AGGAAGGGAGGAAAGGCAGGCAGGCAGGCAGGCAGGCAGGAGGGAGGGAG GGAA	ASIC2	ENSG00000108684.15	transcript	ENST00000225823.7	protein_coding	1/9			chr17	TogoVar
ATP10A_chr15_25673712_25868327	25758645	ACTCATTC others(73): Show ACTCATTCCGACCACCTGCTCCACCCTAACTCATTCCGACCACCTGCTCC ACCCTAACTCATTCCGATCACCTGCTCCACC	A A	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0293 a0004c0004t0002g0293	1	300	0.0033	-80	c.654 others(99): Show c.654+22294_654+22373delGGTGGAGCAGGTGATCGGAATGAGTT AGGGTGGAGCAGGTGGTCGGAATGAGTTAGGGTGGAGCAGGTGGTCGGAA TGAG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP10A_chr15_25673712_25868327	25758684	CCACCTGC others(73): Show CCACCTGCTCCACCCTAACTCATTCCGATCACCTGCTCCACCCTCATTCC GACCACCTGCTCCACCCTAACTCATTCCGAT	C C	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0113 a0004c0004t0001g0113	1	300	0.0033	-80	c.654 others(99): Show c.654+22255_654+22334delATCGGAATGAGTTAGGGTGGAGCAGG TGGTCGGAATGAGGGTGGAGCAGGTGATCGGAATGAGTTAGGGTGGAGCA GGTG	ATP10A	ENSG00000206190.13	transcript	ENST00000555815.7	protein_coding	2/20			chr15	TogoVar
ATP11A_chr13_112685038_112892168	112766928	CCTGTGGG others(73): Show CCTGTGGGAAGGTGGGGAGGGTGTGGGAGTGCTGGGAGCCCCCGTGGAAA GGTGGGGAGGATGTAGGGGTGTTGGGGGCCA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0117 a0001c0002t0013g0117	1	254	0.0039	-80	c.40- others(97): Show c.40-18187_40-18108delGTGTGGGAGTGCTGGGAGCCCCCGTGGA AAGGTGGGGAGGATGTAGGGGTGTTGGGGGCCACTGTGGGAAGGTGGGGA GG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112767100	GGGGAGGG others(73): Show GGGGAGGGTGTGGGAGTGCTGGGAGCCCCCGTGGAAAGGTGGGGAGGATG TAGGGGTATCGGGGGCCCCTGTAGGAAGGTA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02622.hp2 HG03017.hp2 others(3): Show HG01109.hp1 HG02622.hp2 HG03017.hp2 HG03098.hp1 HG03225.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0001c0014 others(1): Show a0001c0002 a0001c0004 a0001c0014 a0002c0003	a0001c0002t0001 a0001c0002t0013 a0001c0004t0050 others(2): Show a0001c0002t0001 a0001c0002t0013 a0001c0004t0050 a0001c0014t0003 a0002c0003t0002	a0001c0002t0001g0032 a0001c0002t0013g0111 a0001c0002t0013g0211 others(3): Show a0001c0002t0001g0032 a0001c0002t0013g0111 a0001c0002t0013g0211 a0001c0004t0050g0033 a0001c0014t0003g0178 a0002c0003t0002g0113	6	254	0.0236	-80	c.40- others(97): Show c.40-18028_40-17949delGTGTGGGAGTGCTGGGAGCCCCCGTGGA AAGGTGGGGAGGATGTAGGGGTATCGGGGGCCCCTGTAGGAAGGTAGGGA GG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112767107	GTGTGGGA others(73): Show GTGTGGGAGTGCTGGGAGCCCCCGTGGAAAGGTGGGGAGGATGTAGGGGT ATCGGGGGCCCCTGTAGGAAGGTAGGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03041.hp2 HG03453.hp1 HG02055.hp2 HG03041.hp2 HG03453.hp1	a0001 a0001	a0001c0002 a0001c0016 a0001c0002 a0001c0016	a0001c0002t0014 a0001c0016t0004 a0001c0002t0014 a0001c0016t0004	a0001c0002t0014g0213 a0001c0016t0004g0214 a0001c0016t0004g0215 a0001c0002t0014g0213 a0001c0016t0004g0214 a0001c0016t0004g0215	3	254	0.0118	-80	c.40- others(97): Show c.40-18021_40-17942delAGTGCTGGGAGCCCCCGTGGAAAGGTGG GGAGGATGTAGGGGTATCGGGGGCCCCTGTAGGAAGGTAGGGAGGATGTG GG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112767229	TGGGGGTG others(73): Show TGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGATGTGGGGGTGTTG GGGGCCCCTGTGGGAAGGTGGGGAGGATGTG	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG03834.hp1 HG00733.hp2 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0015 a0001c0002t0006g0014 a0001c0001t0001g0015 a0001c0002t0006g0014	2	254	0.0079	-80	c.40- others(97): Show c.40-17901_40-17822delGTGTTGGGGGCCCCTGTGGGAAGGTGGG GAGATGTGGGGGTGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGG GG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11A_chr13_112685038_112892168	112767274	TGTTGGGG others(73): Show TGTTGGGGGCCCCTGTGGGAAGGTGGGGAGGATGTGGGGGCGTTGGGGGC CCCTGTGGGAAGGTGGGGAGGATGTGGGGGC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01981.hp2 HG00741.hp2 HG01981.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0001 a0002c0003t0009 a0001c0006t0001 a0002c0003t0009	a0001c0006t0001g0194 a0002c0003t0009g0143 a0001c0006t0001g0194 a0002c0003t0009g0143	2	254	0.0079	-80	c.40- others(97): Show c.40-17791_40-17712delGATGTGGGGGCGTTGGGGGCCCCTGTGG GAAGGTGGGGAGGATGTGGGGGCGTTGGGGGCCCCTGTGGGAAGGTGGGG AG	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP1A1_chr1_116368244_116409774	116369366	ACTCCATT others(73): Show ACTCCATTCTGGGGCGATAGAGCGAGACTCCGTCTCAAAACAAAGAAAAA AAAAAAGAAAGAAAGAAATGGCTCGGCTGCG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(117): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00609.hp2 HG00642.hp1 HG00735.hp1 HG01071.hp1 HG01081.hp2 HG01175.hp1 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02083.hp2 HG02109.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp2 NA18956.hp2 NA18963.hp1 NA18964.hp2 NA18975.hp1 NA18993.hp2 NA18999.hp2 NA19003.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19067.hp2 NA19076.hp1 NA19078.hp2 NA19084.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0013 a0001c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0006 a0001c0006t0001 a0001c0013t0002 a0001c0014t0001	a0001c0001t0001g0019 a0001c0001t0001g0043 a0001c0001t0001g0164 others(82): Show a0001c0001t0001g0019 a0001c0001t0001g0043 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0025 a0001c0001t0002g0046 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0072 a0001c0001t0002g0085 a0001c0001t0002g0173 a0001c0001t0003g0007 a0001c0001t0004g0047 a0001c0002t0001g0040 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0155 a0001c0002t0001g0159 a0001c0002t0002g0006 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0041 a0001c0002t0002g0074 a0001c0002t0002g0075 a0001c0002t0002g0076 a0001c0002t0002g0077 a0001c0002t0002g0079 a0001c0002t0002g0080 a0001c0002t0002g0081 a0001c0003t0001g0021 a0001c0003t0001g0070 a0001c0003t0001g0147 a0001c0003t0001g0149 a0001c0003t0001g0162 a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0177 a0001c0003t0002g0015 a0001c0003t0002g0021 a0001c0003t0002g0028 a0001c0003t0002g0029 a0001c0003t0002g0065 a0001c0003t0002g0066 a0001c0003t0002g0067 a0001c0003t0002g0068 a0001c0003t0002g0069 a0001c0003t0002g0071 a0001c0003t0002g0084 a0001c0003t0002g0148 a0001c0003t0003g0037 a0001c0003t0004g0051 a0001c0004t0001g0011 a0001c0004t0001g0018 a0001c0004t0001g0039 a0001c0004t0001g0042 a0001c0004t0001g0151 a0001c0004t0001g0152 a0001c0004t0001g0163 a0001c0004t0002g0011 a0001c0004t0002g0082 a0001c0004t0002g0083 a0001c0004t0002g0153 a0001c0004t0002g0154 a0001c0004t0002g0156 a0001c0004t0002g0157 a0001c0004t0002g0158 a0001c0004t0002g0161 a0001c0004t0004g0048 a0001c0004t0004g0049 a0001c0004t0006g0073 a0001c0006t0001g0043 a0001c0013t0002g0150 a0001c0014t0001g0018	120	336	0.3571	-80	c.-41 others(91): Show c.-4145_-4066delCTCCATTCTGGGGCGATAGAGCGAGACTCCGTCT CAAAACAAAGAAAAAAAAAAAGAAAGAAAGAAATGGCTCGGCTGCG	ATP1A1	ENSG00000163399.16	transcript	ENST00000295598.10	protein_coding		3877		chr1	TogoVar
ATP1B3_chr3_141871643_141931549	141931213	GTGGGTCA others(73): Show GTGGGTCACAAGGTCAGGAGTTTGAAACCAGCCTGGCCAACATGGTAAAA CCCCGTCTCTACTAAAAATACAAAAATAAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG02965.hp1 HG00642.hp2 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0018 a0001c0001t0003 a0001c0001t0018	a0001c0001t0003g0011 a0001c0001t0018g0351 a0001c0001t0003g0011 a0001c0001t0018g0351	2	408	0.0049	-80	c.55 others(91): Show c.5513_*5592delTGGGTCACAAGGTCAGGAGTTTGAAACCAGCCTG GCCAACATGGTAAAACCCCGTCTCTACTAAAAATACAAAAATAAGC	ATP1B3	ENSG00000069849.11	transcript	ENST00000286371.8	protein_coding		4665		chr3	TogoVar
ATP2B4_chr1_203621832_203749081	203624200	GAGAAAGA others(73): Show GAGAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAGGAAGGAAGGAAGGAAG GAAGGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0058 a0001c0003t0058	a0001c0003t0058g0042 a0001c0003t0058g0042	1	318	0.0031	-80	c.-34 others(91): Show c.-3483_-3404delAGAAAGAAAGAGAGAAAGAAAGAAAGAAAGAAGG AAGGAAGGAAGGAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAA	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding		2631		chr1	TogoVar
ATP6V0A2_chr12_123707353_123766755	123753084	CACCAGTG others(73): Show CACCAGTGACTGCTGCCTGAGTCCCCTGGACCGGTGTCTGCTCAGTCTCC CTTACCAGTGACCACTGTGTCAGTCCCCTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(157): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp1 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18984.hp2 NA18988.hp1 NA18988.hp2 NA18995.hp1 NA18995.hp2 NA19005.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19068.hp1 NA19068.hp2 NA19086.hp1 NA19089.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0008 a0009 a0010	a0001c0001 a0001c0003 a0001c0005 others(6): Show a0001c0001 a0001c0003 a0001c0005 a0001c0011 a0002c0004 a0005c0015 a0008c0010 a0009c0009 a0010c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(31): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0040 a0001c0003t0001 a0001c0003t0010 a0001c0003t0039 a0001c0005t0012 a0001c0011t0008 a0002c0004t0006 a0002c0004t0007 a0005c0015t0023 a0008c0010t0001 a0009c0009t0008 a0010c0012t0020	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(139): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0003g0007 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0005g0038 a0001c0001t0005g0039 a0001c0001t0005g0041 a0001c0001t0005g0042 a0001c0001t0005g0045 a0001c0001t0005g0122 a0001c0001t0005g0123 a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0008g0001 a0001c0001t0008g0009 a0001c0001t0009g0019 a0001c0001t0009g0021 a0001c0001t0009g0031 a0001c0001t0009g0121 a0001c0001t0014g0016 a0001c0001t0014g0148 a0001c0001t0016g0066 a0001c0001t0016g0087 a0001c0001t0017g0044 a0001c0001t0017g0183 a0001c0001t0019g0192 a0001c0001t0019g0193 a0001c0001t0021g0055 a0001c0001t0022g0097 a0001c0001t0024g0084 a0001c0001t0025g0079 a0001c0001t0026g0011 a0001c0001t0027g0083 a0001c0001t0028g0060 a0001c0001t0029g0040 a0001c0001t0030g0043 a0001c0001t0031g0113 a0001c0001t0032g0076 a0001c0001t0033g0007 a0001c0001t0034g0036 a0001c0001t0040g0144 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0010g0018 a0001c0003t0010g0129 a0001c0003t0010g0130 a0001c0003t0010g0131 a0001c0003t0039g0132 a0001c0005t0012g0118 a0001c0005t0012g0119 a0001c0005t0012g0120 a0001c0011t0008g0101 a0002c0004t0006g0005 a0002c0004t0006g0017 a0002c0004t0006g0186 a0002c0004t0006g0191 a0002c0004t0007g0178 a0002c0004t0007g0179 a0002c0004t0007g0180 a0002c0004t0007g0181 a0002c0004t0007g0182 a0005c0015t0023g0075 a0008c0010t0001g0061 a0009c0009t0008g0105 a0010c0012t0020g0086	160	222	0.7207	-80	c.217 others(97): Show c.2175+780_2175+859delGAGTCCCCTGGACCGGTGTCTGCTCAGT CTCCCTTACCAGTGACCACTGTGTCAGTCCCCTTTACCAGTGACTGCTGC CT	ATP6V0A2	ENSG00000185344.15	transcript	ENST00000330342.8	protein_coding	17/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
ATP6V1H_chr8_53710543_53848245	53819608	TTGTATAT others(73): Show TTGTATATACATATATACATATGTATATACAAATGTATATATGTATATAC GTATATACATATATACATATGTATATACAAA	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	286	0.0035	-80	c.307 others(97): Show c.307-2158_307-2079delTTTGTATATACATATGTATATATGTATA TACGTATATACATATATACATTTGTATATACATATGTATATATGTATATA CA	ATP6V1H	ENSG00000047249.18	transcript	ENST00000359530.7	protein_coding	4/13			chr8	TogoVar
ATP9B_chr18_79064394_79383283	79337106	ACTCTGTC others(73): Show ACTCTGTCCCCACAGCCCATGCAGTCCAGCTCTGTGGAGTACACACACAG CACGTACACGTGTGCACATAGTCACCTCCCC	A A	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG02258.hp2 others(8): Show HG01168.hp2 HG01169.hp2 HG02258.hp2 HG02451.hp2 HG02559.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG03195.hp2 HG03579.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0001c0006 a0001c0013 others(1): Show a0001c0004 a0001c0006 a0001c0013 a0002c0002	a0001c0004t0004 a0001c0006t0004 a0001c0013t0004 others(1): Show a0001c0004t0004 a0001c0006t0004 a0001c0013t0004 a0002c0002t0004	a0001c0004t0004g0117 a0001c0004t0004g0119 a0001c0006t0004g0273 others(8): Show a0001c0004t0004g0117 a0001c0004t0004g0119 a0001c0006t0004g0273 a0001c0006t0004g0291 a0001c0006t0004g0292 a0001c0006t0004g0293 a0001c0006t0004g0294 a0001c0013t0004g0108 a0001c0013t0004g0111 a0002c0002t0004g0253 a0002c0002t0004g0258	11	298	0.0369	-80	c.211 others(96): Show c.2113-133_2113-54delACACACACAGCACGTACACGTGTGCACAT AGTCACCTCCCCCTCTGTCCCCACAGCCCATGCAGTCCAGCTCTGTGGAG T	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	18/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B4GALNT3_chr12_454939_568509	499333	AGAGCCCG others(73): Show AGAGCCCGTGCTCTCACTATCTAGAACAGTCCTAGCCCGTGGAGCCCGTG CTCTCACTATCTAGAACAGTCCTAGCCCGTG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0007 a0007c0008t0007	a0007c0008t0007g0287 a0007c0008t0007g0287	1	394	0.0025	-80	c.170 others(99): Show c.170-35765_170-35686delGTCCTAGCCCGTGGAGCCCGTGCTCT CACTATCTAGAACAGTCCTAGCCCGTGGAGCCCGTGCTCTCACTATCTAG AACA	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT3_chr12_454939_568509	529975	GCAATACA others(73): Show GCAATACATCCTGCCGTGTACCTTCGGTAAAGGTGAGCTGCTATGAATAT TGCCATTATTACAACTACTTAGGAGCAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01106.hp2 HG01167.hp1 others(53): Show HG01074.hp1 HG01106.hp2 HG01167.hp1 HG01243.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp2 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18906.hp2 NA18951.hp1 NA19005.hp2 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA21309.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0011 a0014 a0016 a0023	a0001c0001 a0001c0002 a0001c0013 others(13): Show a0001c0001 a0001c0002 a0001c0013 a0001c0016 a0002c0003 a0003c0004 a0004c0005 a0004c0027 a0005c0006 a0006c0007 a0006c0020 a0007c0008 a0011c0015 a0014c0022 a0016c0032 a0023c0046	a0001c0001t0001 a0001c0001t0016 a0001c0001t0017 others(45): Show a0001c0001t0001 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0028 a0001c0001t0055 a0001c0001t0074 a0001c0002t0013 a0001c0002t0081 a0001c0002t0094 a0001c0013t0001 a0001c0013t0002 a0001c0013t0020 a0001c0016t0083 a0001c0016t0088 a0002c0003t0001 a0002c0003t0025 a0002c0003t0034 a0002c0003t0050 a0002c0003t0090 a0003c0004t0001 a0003c0004t0002 a0003c0004t0004 a0003c0004t0005 a0003c0004t0008 a0003c0004t0020 a0003c0004t0038 a0003c0004t0080 a0004c0005t0002 a0004c0005t0017 a0004c0027t0078 a0005c0006t0063 a0006c0007t0037 a0006c0007t0039 a0006c0007t0047 a0006c0007t0049 a0006c0007t0065 a0006c0007t0079 a0006c0020t0002 a0007c0008t0007 a0007c0008t0027 a0007c0008t0037 a0011c0015t0013 a0011c0015t0039 a0011c0015t0092 a0014c0022t0010 a0016c0032t0002 a0023c0046t0013	a0001c0001t0001g0194 a0001c0001t0016g0282 a0001c0001t0017g0199 others(53): Show a0001c0001t0001g0194 a0001c0001t0016g0282 a0001c0001t0017g0199 a0001c0001t0021g0013 a0001c0001t0028g0048 a0001c0001t0028g0208 a0001c0001t0055g0181 a0001c0001t0074g0306 a0001c0002t0013g0175 a0001c0002t0081g0279 a0001c0002t0094g0141 a0001c0013t0001g0128 a0001c0013t0002g0177 a0001c0013t0020g0129 a0001c0016t0083g0228 a0001c0016t0088g0229 a0002c0003t0001g0058 a0002c0003t0025g0061 a0002c0003t0034g0056 a0002c0003t0050g0278 a0002c0003t0090g0143 a0003c0004t0001g0217 a0003c0004t0002g0197 a0003c0004t0004g0390 a0003c0004t0005g0172 a0003c0004t0005g0173 a0003c0004t0005g0174 a0003c0004t0008g0362 a0003c0004t0020g0189 a0003c0004t0038g0148 a0003c0004t0038g0284 a0003c0004t0080g0201 a0004c0005t0002g0202 a0004c0005t0017g0184 a0004c0005t0017g0196 a0004c0027t0078g0276 a0005c0006t0063g0183 a0006c0007t0037g0211 a0006c0007t0039g0301 a0006c0007t0047g0167 a0006c0007t0049g0226 a0006c0007t0065g0206 a0006c0007t0079g0231 a0006c0020t0002g0275 a0006c0020t0002g0283 a0007c0008t0007g0187 a0007c0008t0007g0287 a0007c0008t0027g0142 a0007c0008t0027g0144 a0007c0008t0037g0114 a0011c0015t0013g0280 a0011c0015t0039g0303 a0011c0015t0092g0234 a0014c0022t0010g0192 a0016c0032t0002g0006 a0023c0046t0013g0245	56	394	0.1421	-80	c.170 others(97): Show c.170-5111_170-5032delACAATACATCCTGCCGTGTACCTTCGGT AAAGGTGAGCTGCTATGAATATTGCCATTATTACAACTACTTAGGAGCAA AA	B4GALNT3	ENSG00000139044.12	transcript	ENST00000266383.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr12	TogoVar
B4GALNT4_chr11_364499_387117	374868	GGAGGAGG others(73): Show GGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGG GAGGGAGGAGGAAGGGAGGGAGGGAGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0088 a0003c0006t0001g0088	1	184	0.0054	-80	c.784 others(95): Show c.784-592_784-513delGAGGAGGAAGGGAGGGAGGGAGGAGGAAGG GAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGA	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19			chr11	TogoVar
BAIAP2_chr17_81030151_81122434	81056794	CTTCTGCT others(73): Show CTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTT TCTGCTGTTGCGTTTTTCTGCTGTTGCGTTT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0366 a0001c0001t0001g0367 a0001c0001t0001g0366 a0001c0001t0001g0367	2	376	0.0053	-80	c.131 others(96): Show c.131-1018_131-939delGCTGTTGCGTTTTTCTGCTGTTGCGTTTT TCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTCTGCTGTTGCGTTTTTC T	BAIAP2	ENSG00000175866.16	transcript	ENST00000428708.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
BICD1_chr12_32101847_32388633	32346558	ATATATAT others(73): Show ATATATATATATATATATATATATACGTGTATATATATATATATATATAT ATATACGTGTATATATATATATATATACGTG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG02015.hp2 others(8): Show HG00408.hp2 HG00609.hp1 HG02015.hp2 HG02723.hp2 HG02809.hp2 NA18612.hp2 NA18951.hp1 NA18960.hp2 NA18969.hp2 NA18971.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 others(2): Show a0001c0001t0014 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0002t0045	a0001c0001t0014g0030 a0001c0001t0014g0031 a0001c0002t0001g0072 others(8): Show a0001c0001t0014g0030 a0001c0001t0014g0031 a0001c0002t0001g0072 a0001c0002t0001g0220 a0001c0002t0001g0267 a0001c0002t0001g0283 a0001c0002t0002g0088 a0001c0002t0004g0007 a0001c0002t0004g0017 a0001c0002t0004g0106 a0001c0002t0045g0201	11	290	0.0379	-80	c.276 others(99): Show c.2764+7600_2764+7679delTATACGTGTATATATATATATATATA TATATATACGTGTATATATATATATATATACGTGTATATATATATATATA TATA	BICD1	ENSG00000151746.15	transcript	ENST00000652176.1	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMPR2_chr2_202371327_202572749	202498454	GCAACTAT others(73): Show GCAACTATTCCGATCAGCAGGGTCCAGGGACAGTTGCATGTTCTTGGGCA GGGGTTGTTTCTGCTGCTGCGTCGGTGAGCA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0159 a0001c0001t0011g0159	1	224	0.0045	-80	c.419 others(99): Show c.419-15234_419-15155delAGTTGCATGTTCTTGGGCAGGGGTTG TTTCTGCTGCTGCGTCGGTGAGCACAACTATTCCGATCAGCAGGGTCCAG GGAC	BMPR2	ENSG00000204217.16	transcript	ENST00000374580.10	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
BOK_chr2_241553745_241579131	241573198	GCTCTCAC others(73): Show GCTCTCACCTGAGCCCCCGGTGAAGGGGCCCGGAACACTTGCTCTCACCT GAGCCCCAGGTGAAGGGGCCCGGAACACCTC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp2 HG00544.hp2 HG00642.hp1 others(29): Show HG00423.hp2 HG00544.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp2 HG01081.hp2 HG01123.hp1 HG01243.hp1 HG01261.hp2 HG02004.hp2 HG02109.hp1 HG02132.hp1 HG02135.hp2 HG02257.hp1 HG02280.hp1 HG02572.hp2 HG02738.hp2 HG02922.hp2 HG02970.hp2 HG03239.hp1 HG03490.hp2 HG03516.hp1 HG03669.hp2 HG03927.hp1 HG04199.hp2 NA18952.hp2 NA18998.hp2 NA19000.hp2 NA19012.hp1 NA19043.hp2 NA19067.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0009 a0001c0001t0022 others(4): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0022 a0001c0001t0025 a0001c0001t0041 a0001c0001t0049 a0001c0002t0009	a0001c0001t0006g0005 a0001c0001t0006g0133 a0001c0001t0006g0207 others(24): Show a0001c0001t0006g0005 a0001c0001t0006g0133 a0001c0001t0006g0207 a0001c0001t0006g0209 a0001c0001t0006g0211 a0001c0001t0006g0212 a0001c0001t0006g0216 a0001c0001t0006g0220 a0001c0001t0006g0221 a0001c0001t0006g0225 a0001c0001t0006g0243 a0001c0001t0006g0265 a0001c0001t0006g0266 a0001c0001t0009g0055 a0001c0001t0009g0069 a0001c0001t0009g0070 a0001c0001t0009g0071 a0001c0001t0009g0242 a0001c0001t0022g0189 a0001c0001t0022g0190 a0001c0001t0022g0191 a0001c0001t0025g0263 a0001c0001t0025g0264 a0001c0001t0041g0234 a0001c0001t0049g0077 a0001c0002t0009g0060 a0001c0002t0009g0061	32	434	0.0737	-80	c.79 others(89): Show c.793_*872delCGGTGAAGGGGCCCGGAACACTTGCTCTCACCTGAG CCCCAGGTGAAGGGGCCCGGAACACCTCCTCTCACCTGAGCCCC	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	5/5	793	INFO_REALIGN_3_PRIME	chr2	TogoVar
BOK_chr2_241553745_241579131	241573215	CGGTGAAG others(73): Show CGGTGAAGGGGCCCGGAACACTTGCTCTCACCTGAGCCCCAGGTGAAGGG GCCCGGAACACCTCCTCTCACCTGAGCCCCA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0080 a0001c0001t0036g0080	1	434	0.0023	-80	c.81 others(89): Show c.814_*893delTTGCTCTCACCTGAGCCCCAGGTGAAGGGGCCCGGA ACACCTCCTCTCACCTGAGCCCCAGGTGAAGGGGCCCGGAACAC	BOK	ENSG00000176720.6	transcript	ENST00000318407.5	protein_coding	5/5	814	INFO_REALIGN_3_PRIME	chr2	TogoVar
BSG_chr19_567596_588493	570623	GGGGCGAG others(73): Show GGGGCGAGGGGTGGGTGGGAGGGGCGGAGGGGCGGGTTGGGGAGGGGCGG AGGGGTGGGGTGGGTGGGTGGGGGGGGCGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0003 a0004c0009t0003	a0004c0009t0003g0092 a0004c0009t0003g0092	1	306	0.0033	-80	c.-20 others(91): Show c.-2011_-1932delGGGCGAGGGGTGGGTGGGAGGGGCGGAGGGGCGG GTTGGGGAGGGGCGGAGGGGTGGGGTGGGTGGGTGGGGGGGGCGGA	BSG	ENSG00000172270.22	transcript	ENST00000333511.9	protein_coding		1972		chr19	TogoVar
C1GALT1C1_chrX_120620674_120635054	120633334	TGATGAAT others(73): Show TGATGAATATGTTCATTAGCTTGATTGTGGTAATCATTTCACAGTGTATA CATATAGCAAATCATCACATTGTGCACTTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	324	0.0031	-80	c.-35 others(91): Show c.-3503_-3424delTAAAGTGCACAATGTGATGATTTGCTATATGTAT ACACTGTGAAATGATTACCACAATCAAGCTAATGAACATATTCATC	C1GALT1C1	ENSG00000171155.8	transcript	ENST00000304661.6	protein_coding		3281		chrX	TogoVar
C5orf34_chr5_43481709_43520148	43511154	CCTCTGCC others(73): Show CCTCTGCCTGGCAGCCGCCCTGTCTGAGAAGTGAGGAGCCCCTCTGCCCG GCAGCCGACCCGTCTGAGAAGTGAGGAGCCT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01175.hp2 HG00323.hp1 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0079 a0001c0002t0002g0097 a0001c0002t0002g0079 a0001c0002t0002g0097	2	340	0.0059	-80	c.-36 others(97): Show c.-36-1859_-36-1780delAGGCTCCTCACTTCTCAGACGGGTCGGC TGCCGGGCAGAGGGGCTCCTCACTTCTCAGACAGGGCGGCTGCCAGGCAG AG	C5orf34	ENSG00000172244.9	transcript	ENST00000306862.7	protein_coding	1/12			chr5	TogoVar
CAB39L_chr13_49303650_49449064	49318489	AGGGAAAG others(73): Show AGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG GGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0292 a0001c0001t0002g0292	1	324	0.0031	-80	c.835 others(97): Show c.835-7576_835-7497delCCTTTCCCTTTCCCTTTCCCTTTCCCTT TCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTC CC	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	10/10			chr13	TogoVar
CACHD1_chr1_64465129_64698053	64541895	AACTATCA others(73): Show AACTATCATAGAACAACTATCATTAATAGAATGTTATTATAGTCTTAAAG GATTAACTATAGTAAAATAGAATAATAGTAG	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01928.hp2 HG02717.hp2 others(4): Show HG01192.hp2 HG01928.hp2 HG02717.hp2 HG02723.hp2 HG06807.hp1 NA18955.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0018 a0001c0003t0001 a0001c0001t0001 a0001c0001t0018 a0001c0003t0001	a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0060 others(4): Show a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0060 a0001c0001t0001g0100 a0001c0001t0001g0111 a0001c0001t0018g0101 a0001c0003t0001g0106	7	166	0.0422	-80	c.199 others(97): Show c.199-8617_199-8538delCTATCATAGAACAACTATCATTAATAGA ATGTTATTATAGTCTTAAAGGATTAACTATAGTAAAATAGAATAATAGTA GA	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNG7_chr19_53904278_53948950	53920998	GCTGGTCA others(73): Show GCTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCC AGGCCTGGTCATTGGTGGACTTGCCCCAGGT	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19085.hp1 NA18954.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0179 a0001c0001t0001g0105 a0001c0001t0001g0179	2	364	0.0055	-80	c.424 others(97): Show c.424+5513_424+5592delCCCCAGGCTGGTCATTGGTGGAGTTGCC CCAGGCCTGGTCATTGGTGGACTTGCCCCAGGTCTGGTCATTGGTGGAGT TG	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53921158	GCTGGTCA others(73): Show GCTGGTCATTGGTGGACTTGCCCCAGGCTGGTCATTGGTGGAGTTGTCCC CAGGCCTGGTATTGGTGGAGTTGCCCCAGGT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0355 a0001c0001t0001g0355	1	364	0.0028	-80	c.424 others(97): Show c.424+5669_424+5748delCTTGCCCCAGGCTGGTCATTGGTGGAGT TGTCCCCAGGCCTGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTG GA	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53921822	GCCCCAGG others(73): Show GCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGA GTTGTCCCAGGCTGGTCATTGGTGGAGTTGT	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	364	0.0028	-80	c.424 others(97): Show c.424+6331_424+6410delCATTGGTGGAGTTGTCCCAGGCTGGTCA TTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTGTCCCCAGGTCTG GT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53923615	CATTGGTG others(73): Show CATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGCAGTTGCCCCAGGTC TGGTCATTGGTGGAGTTGTCCCAGGCCTGGT	C C	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	364	0.0028	-80	c.424 others(97): Show c.424+8111_424+8190delATTGGTGGAGTTGTCCCAGGTCTGGTCA TTGGTGCAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGCCTG GT	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
CACNG7_chr19_53904278_53948950	53925011	TATTGGTG others(73): Show TATTGGTGGACTTGCCTAGGGCTGGTCATTGGTGGACTTGCCCCAGGTCT GGTCATTGGTGGAGTTGCCCCAGGTCTGGTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp2 HG03139.hp1 others(1): Show HG02451.hp2 HG02559.hp2 HG03139.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 others(1): Show a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0007g0067	4	364	0.0110	-80	c.424 others(97): Show c.424+9548_424+9627delCCAGGTCTGGTCATTGGTGGAGTTGCCC CAGGTCTGGTCATTGGTGGACTTGCCTAGGGCTGGTCATTGGTGGACTTG CC	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CADM4_chr19_43617368_43644850	43643681	TGAATAGT others(73): Show TGAATAGTGTCCTCCAAGTAAAATATATGTTGAAGTTCTAGCCCCTGGTA TCTGTACATGTGACCTTATTTGGAAATAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02083.hp1 HG02257.hp2 others(6): Show HG02040.hp2 HG02083.hp1 HG02257.hp2 HG02809.hp1 HG03139.hp1 HG03516.hp2 NA18945.hp1 NA18989.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0057 a0001c0001t0001g0059 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064	9	424	0.0212	-80	c.-39 others(91): Show c.-3971_-3892delTTTTATTTCCAAATAAGGTCACATGTACAGATAC CAGGGGCTAGAACTTCAACATATATTTTACTTGGAGGACACTATTC	CADM4	ENSG00000105767.3	transcript	ENST00000222374.3	protein_coding		3832		chr19	TogoVar
CALN1_chr7_71774491_72417338	72204962	CAATAAAG others(73): Show CAATAAAGAATGAAAATGTCCATTTTCACACAGCATTGCCAACAATGGAT ATCTACTTTTTCTGTCCAACCCTGCTAAAAT	C C	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	142	0.0070	-80	c.244 others(99): Show c.244+73644_244+73723delATTTTAGCAGGGTTGGACAGAAAAAG TAGATATCCATTGTTGGCAATGCTGTGTGAAAATGGACATTTTCATTCTT TATT	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CAMKK1_chr17_3855315_3898053	3867965	GCAGGATC others(73): Show GCAGGATCTGGGGGAGATGCAGGCACCGTCTAACTGATACGCGGGCTCTG GGGGAGAAGCAGGCGCCGTCTAACTGATACA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp2 HG02257.hp1 HG02559.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0001 a0001c0004 a0002c0001	a0001c0004t0009 a0002c0001t0006 a0001c0004t0009 a0002c0001t0006	a0001c0004t0009g0295 a0002c0001t0006g0192 a0001c0004t0009g0295 a0002c0001t0006g0192	2	446	0.0045	-80	c.134 others(99): Show c.1341+1442_1341+1521delTGTATCAGTTAGACGGCGCCTGCTTC TCCCCCAGAGCCCGCGTATCAGTTAGACGGTGCCTGCATCTCCCCCAGAT CCTG	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKK1_chr17_3855315_3898053	3868050	ATCTGGGG others(73): Show ATCTGGGGGAGAAGCAGGCGCAGTCTAACTGATACGTGGGCTCTGGGGGA GAAGCAGGCGCCGTCTAACTGATACGTGGGC	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01106.hp1 HG02273.hp1 others(6): Show HG01074.hp1 HG01106.hp1 HG02273.hp1 HG02738.hp2 HG04204.hp1 NA18939.hp1 NA19043.hp2 NA19055.hp1 NA19062.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0003 a0001c0003t0003 a0002c0001t0001 others(4): Show a0001c0002t0003 a0001c0003t0003 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0005 a0002c0001t0027	a0001c0002t0003g0337 a0001c0003t0003g0187 a0002c0001t0001g0232 others(6): Show a0001c0002t0003g0337 a0001c0003t0003g0187 a0002c0001t0001g0232 a0002c0001t0001g0325 a0002c0001t0002g0043 a0002c0001t0002g0048 a0002c0001t0003g0303 a0002c0001t0005g0038 a0002c0001t0027g0413	9	446	0.0202	-80	c.134 others(99): Show c.1341+1357_1341+1436delGCCCACGTATCAGTTAGACGGCGCCT GCTTCTCCCCCAGAGCCCACGTATCAGTTAGACTGCGCCTGCTTCTCCCC CAGA	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKK1_chr17_3855315_3898053	3868071	AGTCTAAC others(73): Show AGTCTAACTGATACGTGGGCTCTGGGGGAGAAGCAGGCGCCGTCTAACTG ATACGTGGGCTCTGGGGGAGAAGCAGGCGCC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01069.hp2 HG01071.hp1 others(31): Show HG00280.hp1 HG01069.hp2 HG01071.hp1 HG01256.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp2 HG02630.hp2 HG02735.hp2 HG04228.hp1 NA18950.hp2 NA18965.hp2 NA18966.hp1 NA18971.hp2 NA18972.hp2 NA18979.hp1 NA18979.hp2 NA18984.hp1 NA18997.hp2 NA19000.hp1 NA19004.hp2 NA19010.hp1 NA19064.hp1 NA19065.hp1 NA19074.hp1 NA19085.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0003 a0002c0001 a0001c0002 a0001c0003 a0002c0001	a0001c0002t0004 a0001c0002t0006 a0001c0002t0014 others(13): Show a0001c0002t0004 a0001c0002t0006 a0001c0002t0014 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0013 a0002c0001t0001 a0002c0001t0002 a0002c0001t0003 a0002c0001t0004 a0002c0001t0005 a0002c0001t0008 a0002c0001t0014 a0002c0001t0060 a0002c0001t0062	a0001c0002t0004g0098 a0001c0002t0006g0203 a0001c0002t0014g0408 others(30): Show a0001c0002t0004g0098 a0001c0002t0006g0203 a0001c0002t0014g0408 a0001c0003t0001g0282 a0001c0003t0002g0071 a0001c0003t0008g0230 a0001c0003t0013g0004 a0002c0001t0001g0248 a0002c0001t0001g0251 a0002c0001t0001g0318 a0002c0001t0001g0342 a0002c0001t0001g0355 a0002c0001t0001g0362 a0002c0001t0002g0025 a0002c0001t0002g0051 a0002c0001t0002g0073 a0002c0001t0002g0075 a0002c0001t0002g0082 a0002c0001t0002g0101 a0002c0001t0002g0102 a0002c0001t0002g0110 a0002c0001t0002g0117 a0002c0001t0002g0170 a0002c0001t0002g0178 a0002c0001t0003g0215 a0002c0001t0004g0074 a0002c0001t0005g0050 a0002c0001t0005g0058 a0002c0001t0005g0166 a0002c0001t0008g0208 a0002c0001t0014g0414 a0002c0001t0060g0415 a0002c0001t0062g0418	34	446	0.0762	-80	c.134 others(99): Show c.1341+1336_1341+1415delGGCGCCTGCTTCTCCCCCAGAGCCCA CGTATCAGTTAGACGGCGCCTGCTTCTCCCCCAGAGCCCACGTATCAGTT AGAC	CAMKK1	ENSG00000004660.15	transcript	ENST00000348335.7	protein_coding	14/15			chr17	TogoVar
CAMKMT_chr2_44356947_44777592	44409103	ATATATAT others(73): Show ATATATATATATATATATATATATATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01258.hp2 HG01884.hp2 others(6): Show HG00741.hp2 HG01258.hp2 HG01884.hp2 HG02451.hp1 HG02572.hp1 HG02630.hp2 HG02970.hp1 HG03139.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0127 a0001c0001t0001g0166 a0001c0001t0001g0167 others(6): Show a0001c0001t0001g0127 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0002g0001 a0001c0001t0002g0173 a0001c0001t0003g0165 a0001c0001t0003g0169 a0001c0001t0006g0160	9	198	0.0455	-80	c.376 others(99): Show c.376+18804_376+18883delATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATATATATATATATATATGT ATAT	CAMKMT	ENSG00000143919.16	transcript	ENST00000378494.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
CCDC60_chr12_119329729_119546040	119545233	TACTCTCC others(73): Show TACTCTCCCACCCTGCCCTCCAGCAGAATGTCACTTTCCTGCCAAAAAAA AATGCAAGTATTAAACAGCAGCAACAAGACC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0135 a0002c0002t0002g0135	1	256	0.0039	-80	c.45 others(91): Show c.4519_*4598delACTCTCCCACCCTGCCCTCCAGCAGAATGTCACT TTCCTGCCAAAAAAAAATGCAAGTATTAAACAGCAGCAACAAGACC	CCDC60	ENSG00000183273.7	transcript	ENST00000327554.3	protein_coding		4194		chr12	TogoVar
CCDC73_chr11_32597721_32799662	32755611	GTGTGTGT others(73): Show GTGTGTGTATATATATATCTCCATATATATGTGTATATATATATCTCCAT ATATATGTGTATATATATATCTCCATATATA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03486.hp2 HG03540.hp2 others(1): Show HG02572.hp1 HG03486.hp2 HG03540.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0002g0257 others(1): Show a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0002g0257 a0001c0001t0002g0258	4	312	0.0128	-80	c.135 others(97): Show c.135+4418_135+4497delTATATATGGAGATATATATATACACATA TATATGGAGATATATATATACACATATATATGGAGATATATATATACACA CA	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17			chr11	TogoVar
CCDC73_chr11_32597721_32799662	32755669	GTATATAT others(73): Show GTATATATATATCTCCATATATATGTGTATATATATATCTCCATATATAT GTGTATATATATATCTCCATATATATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(74): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00642.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01169.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp2 HG01515.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp1 HG02622.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp2 HG02735.hp2 HG02809.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03239.hp1 HG03453.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG03834.hp2 HG04115.hp2 HG04228.hp1 NA18522.hp2 NA18941.hp2 NA18944.hp1 NA18953.hp1 NA18963.hp1 NA18967.hp1 NA18967.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp1 NA18986.hp1 NA18990.hp2 NA18995.hp1 NA19030.hp1 NA19081.hp2 NA19084.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0002 a0002c0010 others(2): Show a0001c0001 a0001c0002 a0002c0010 a0004c0009 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0010t0001 a0004c0009t0001 a0005c0006t0001	a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 others(74): Show a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0002t0001g0082 a0002c0010t0001g0292 a0004c0009t0001g0245 a0005c0006t0001g0265	77	312	0.2468	-80	c.135 others(97): Show c.135+4360_135+4439delTACACATATATATGGAGATATATATATA CACATATATATGGAGATATATATATACACATATATATGGAGATATATATA TA	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17			chr11	TogoVar
CCDC73_chr11_32597721_32799662	32755707	CTCCATAT others(73): Show CTCCATATATATGTGTATATATATATCTCCATATATATGTGTATATATAT ATATCTCCATATATATGTGTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01243.hp1 HG02109.hp1 others(7): Show HG00642.hp1 HG01243.hp1 HG02109.hp1 HG02451.hp2 HG02622.hp2 HG02630.hp2 HG02886.hp1 HG03209.hp2 NA19043.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0270 a0001c0001t0001g0271 others(7): Show a0001c0001t0001g0263 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283	10	312	0.0321	-80	c.135 others(97): Show c.135+4322_135+4401delTATATATATATACACATATATATGGAGA TATATATATATACACATATATATGGAGATATATATATACACATATATATG GA	CCDC73	ENSG00000186714.13	transcript	ENST00000335185.10	protein_coding	2/17			chr11	TogoVar
CCNY_chr10_35331509_35577667	35363343	AGTGGGGC others(73): Show AGTGGGGCGGCCGGGCAGAGGTGCTTCTCACTTCCCAGGTGGTTGGGGGG CCGGGCAGAGGTGCTCCTCTCTTCCCAGACG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02723.hp2 HG02818.hp1 others(5): Show HG02559.hp1 HG02723.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03098.hp2 HG03516.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0008 a0001c0001t0009 a0003c0004t0009 a0001c0001t0008 a0001c0001t0009 a0003c0004t0009	a0001c0001t0008g0138 a0001c0001t0008g0139 a0001c0001t0008g0140 others(5): Show a0001c0001t0008g0138 a0001c0001t0008g0139 a0001c0001t0008g0140 a0001c0001t0008g0141 a0001c0001t0009g0142 a0003c0004t0009g0135 a0003c0004t0009g0136 a0003c0004t0009g0137	8	296	0.0270	-80	c.154 others(99): Show c.154+26144_154+26223delGGCCGGGCAGAGGTGCTTCTCACTTC CCAGGTGGTTGGGGGGCCGGGCAGAGGTGCTCCTCTCTTCCCAGACGGTG GGGC	CCNY	ENSG00000108100.18	transcript	ENST00000374704.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
CDH12_chr5_21745673_22858344	22154467	ATGTACAC others(73): Show ATGTACACATATATATGTACACATATATATGTACACATATATATGTACAC ATATATATACACATATGTATATATGTATATG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0060 a0002c0003t0005g0060	1	60	0.0167	-80	c.-18 others(101): Show c.-187+57951_-187+58030delCATATACATATATACATATGTGTA TATATATGTGTACATATATATGTGTACATATATATGTGTACATATATATG TGTACA	CDH12	ENSG00000154162.15	transcript	ENST00000382254.6	protein_coding	4/14			chr5	TogoVar
CDH4_chr20_61247261_61945617	61534721	GTCAACCC others(73): Show GTCAACCCGACGGCCTCCCTTGCTGGGACGCTCCTTTGGAGCAGCCTCTG GTGGGACAGTGGCAGAGATGCCTGTTCATCC	G G	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01081.hp1 HG01109.hp1 others(13): Show HG00423.hp1 HG01081.hp1 HG01109.hp1 HG01358.hp2 HG01978.hp2 HG02040.hp2 HG02451.hp2 HG02647.hp1 HG02809.hp2 HG02895.hp2 HG02965.hp2 HG03453.hp1 HG03516.hp1 NA18522.hp1 NA18906.hp2 NA18941.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0011 others(7): Show a0001c0001 a0001c0003 a0001c0011 a0001c0013 a0002c0002 a0002c0004 a0002c0005 a0002c0016 a0002c0024 a0003c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0014 a0001c0003t0001 a0001c0003t0032 a0001c0003t0053 a0001c0011t0008 a0001c0013t0006 a0002c0002t0004 a0002c0002t0005 a0002c0004t0033 a0002c0005t0020 a0002c0016t0004 a0002c0024t0047 a0003c0018t0045	a0001c0001t0001g0032 a0001c0001t0002g0059 a0001c0001t0011g0005 others(13): Show a0001c0001t0001g0032 a0001c0001t0002g0059 a0001c0001t0011g0005 a0001c0001t0014g0106 a0001c0003t0001g0020 a0001c0003t0032g0040 a0001c0003t0053g0074 a0001c0011t0008g0003 a0001c0013t0006g0036 a0002c0002t0004g0068 a0002c0002t0005g0096 a0002c0004t0033g0095 a0002c0005t0020g0056 a0002c0016t0004g0042 a0002c0024t0047g0051 a0003c0018t0045g0052	16	106	0.1509	-80	c.170 others(101): Show c.170-208768_170-208689delTTCATCCTCAACCCGACGGCCTCC CTTGCTGGGACGCTCCTTTGGAGCAGCCTCTGGTGGGACAGTGGCAGAGA TGCCTG	CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr20	TogoVar

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