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
RASA3_chr13_113972783_114137623	114006555	CCACTCCT others(291): Show CCACTCCTGCCCTGCTGGACGCCACCTTACCCTTCTCCCCACTCCTGCCC TGCCGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACACCACC TTACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCC CCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCACTCCTGCCCTG CTGGATGCCACCTTACCCTTCTCCCCTCCTGCCCTGCTGGACACCACCTT ACCCTTCTCCCCTCCTGCCCTGCCGGACGCCACCTTACCCTTCTCCCCA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0066	1	67	0.0149	-298	c.174 others(17): Show c.1742+680_1742+977del	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	18/23			chr13	TogoVar
RRP12_chr10_97351701_97406340	97398055	TTTTTTTT others(291): Show TTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGCCCAGGCCGGACTGCGG ACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCG CCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCAC CTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCT CGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03130.hp2 NA19078.hp2 HG01358.hp2 HG03130.hp2 NA19078.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0271 a0003c0002t0001g0272 a0003c0002t0001g0291 a0003c0002t0001g0271 a0003c0002t0001g0272 a0003c0002t0001g0291	3	400	0.0075	-298	c.369 others(17): Show c.369+1952_370-1755del	RRP12	ENSG00000052749.14	transcript	ENST00000370992.9	protein_coding	2/33			chr10	TogoVar
SCNN1D_chr1_1275436_1297025	1288650	TGTCTCTG others(291): Show TGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTG TCCCTGTTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCT CCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGTTCCGTCCCCCGA	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0156 a0005c0011t0001g0156	1	290	0.0035	-298	c.166 others(17): Show c.1662+653_1662+950del	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGSM2_chr17_2332501_2386054	2356527	GTTGGGGG others(291): Show GTTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGG GTTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGG ATTGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGG TTGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGA TTGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGGT TGGGGGAAGGGACCCCATATCTTAAAATGGTGGAATCGGGGTGTAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01069.hp1 HG01071.hp2 others(21): Show HG00738.hp1 HG01069.hp1 HG01071.hp2 HG02523.hp2 HG03669.hp1 HG03710.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18941.hp1 NA18949.hp1 NA18962.hp2 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18972.hp2 NA19070.hp1 NA19072.hp1 NA19077.hp2 NA19080.hp2 NA19086.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0021	a0001c0001t0001g0075 a0001c0001t0001g0161 a0001c0001t0001g0163 others(21): Show a0001c0001t0001g0075 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0230 a0001c0001t0001g0247 a0001c0001t0001g0257 a0001c0001t0001g0283 a0001c0001t0001g0296 a0001c0001t0001g0303 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0313 a0001c0001t0001g0317 a0001c0001t0001g0323 a0001c0001t0001g0327 a0001c0001t0001g0369 a0001c0001t0002g0177 a0001c0001t0002g0207 a0001c0001t0002g0249 a0001c0001t0002g0271 a0001c0001t0003g0269 a0001c0001t0003g0330 a0001c0001t0021g0017	24	422	0.0569	-298	c.134 others(17): Show c.134-5103_134-4806del	SGSM2	ENSG00000141258.13	transcript	ENST00000268989.8	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC6A18_chr5_1220381_1251189	1238235	TAGGAAAG others(291): Show TAGGAAAGAGGTCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTC AGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTG AGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTC AGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCA GGTTTGGAGTGAGCTTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGG CCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCAGGGGCCTC	T T	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0012 a0012	a0012c0017 a0012c0017	a0012c0017t0003 a0012c0017t0003	a0012c0017t0003g0195 a0012c0017t0003g0195	1	456	0.0022	-298	c.732 others(15): Show c.732+203_732+500del	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1238344	CCTCAGGA others(291): Show CCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAG GTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGAGCTTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGA CTCAGGAAAGACATCAGGTTTGGAGTGAGCCAGGGGCCTCAGGAAAGAGG TCAGGTTTGGAGTGAGCTTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGT GAGCCAGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCCTGGAGGA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp1 HG02055.hp1 others(35): Show HG01243.hp1 HG01891.hp1 HG02055.hp1 HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA20129.hp1 NA20300.hp1	a0001 a0003 a0005 others(7): Show a0001 a0003 a0005 a0011 a0012 a0014 a0016 a0018 a0021 a0023	a0001c0002 a0003c0004 a0003c0010 others(12): Show a0001c0002 a0003c0004 a0003c0010 a0003c0013 a0003c0027 a0005c0006 a0011c0019 a0011c0020 a0012c0043 a0014c0023 a0014c0035 a0016c0049 a0018c0030 a0021c0038 a0023c0032	a0001c0002t0001 a0003c0004t0001 a0003c0010t0001 others(13): Show a0001c0002t0001 a0003c0004t0001 a0003c0010t0001 a0003c0013t0001 a0003c0027t0001 a0005c0006t0003 a0011c0019t0001 a0011c0019t0002 a0011c0020t0001 a0012c0043t0003 a0014c0023t0001 a0014c0035t0001 a0016c0049t0003 a0018c0030t0001 a0021c0038t0005 a0023c0032t0001	a0001c0002t0001g0019 a0001c0002t0001g0097 a0001c0002t0001g0099 others(32): Show a0001c0002t0001g0019 a0001c0002t0001g0097 a0001c0002t0001g0099 a0003c0004t0001g0023 a0003c0004t0001g0098 a0003c0004t0001g0104 a0003c0004t0001g0123 a0003c0004t0001g0126 a0003c0004t0001g0170 a0003c0004t0001g0172 a0003c0004t0001g0297 a0003c0004t0001g0384 a0003c0010t0001g0274 a0003c0010t0001g0275 a0003c0013t0001g0024 a0003c0013t0001g0128 a0003c0013t0001g0132 a0003c0013t0001g0133 a0003c0013t0001g0318 a0003c0027t0001g0277 a0005c0006t0003g0268 a0011c0019t0001g0271 a0011c0019t0001g0279 a0011c0019t0002g0270 a0011c0020t0001g0130 a0011c0020t0001g0131 a0011c0020t0001g0299 a0012c0043t0003g0189 a0014c0023t0001g0272 a0014c0023t0001g0273 a0014c0035t0001g0127 a0016c0049t0003g0190 a0018c0030t0001g0278 a0021c0038t0005g0168 a0023c0032t0001g0175	38	456	0.0833	-298	c.732 others(15): Show c.732+319_732+616del	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
TIMM17A_chr1_201950503_201975664	201959236	GTCCCAGC others(291): Show GTCCCAGCTACTCAGGAGGCTGACGCAGGAGAATCGCTTGAACCCAGGAG GTGGAGTTTGCAGTGAGCCGAGATTGCACCACTGTACTCCAGGCGGGGTG ACAGAGCAAGACTCTGTCTCTAAAAAATAAAATAAAAGGGCTGGGCACAG TGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCTAAGGCGGGTGGATC ACGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACGTGGTGAAACCCCATG TCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCACGTGCCTGTAA	G G	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0063 a0001c0001t0008g0063	1	468	0.0021	-298	c.190 others(17): Show c.190+1685_190+1982del	TIMM17A	ENSG00000134375.11	transcript	ENST00000367287.5	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
TPTE_chr21_10516583_10610716	10543002	TCTGACTG others(291): Show TCTGACTGTATTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGC TCACTGCAAGCTCTGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCT CCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCAGCTAATTTTT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCAATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTG	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00597.hp1 others(110): Show HG00423.hp1 HG00544.hp2 HG00597.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG01099.hp1 HG01123.hp2 HG01169.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01516.hp2 HG01928.hp2 HG01943.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02129.hp1 HG02132.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02300.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp1 HG03017.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03669.hp2 HG03688.hp1 HG03927.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18949.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18969.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18981.hp2 NA18982.hp1 NA18993.hp1 NA18995.hp2 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp1 NA19067.hp2 NA19072.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19086.hp1 NA19090.hp1 NA21309.hp1	a0001 a0003 a0005 others(10): Show a0001 a0003 a0005 a0006 a0008 a0009 a0012 a0013 a0014 a0015 a0016 a0018 a0019	a0001c0001 a0001c0003 a0001c0010 others(15): Show a0001c0001 a0001c0003 a0001c0010 a0001c0012 a0001c0020 a0001c0023 a0003c0004 a0005c0006 a0006c0007 a0008c0009 a0009c0025 a0012c0014 a0013c0017 a0014c0018 a0015c0013 a0016c0011 a0018c0021 a0019c0022	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(20): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0003t0002 a0001c0003t0011 a0001c0010t0002 a0001c0012t0002 a0001c0020t0005 a0001c0023t0003 a0003c0004t0003 a0005c0006t0002 a0006c0007t0002 a0008c0009t0008 a0008c0009t0009 a0009c0025t0002 a0012c0014t0002 a0013c0017t0005 a0014c0018t0003 a0015c0013t0002 a0016c0011t0002 a0018c0021t0003 a0019c0022t0003	a0001c0001t0003g0004 a0001c0001t0003g0021 a0001c0001t0003g0022 others(105): Show a0001c0001t0003g0004 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0061 a0001c0001t0003g0063 a0001c0001t0004g0008 a0001c0001t0005g0004 a0001c0001t0005g0014 a0001c0001t0005g0017 a0001c0001t0005g0019 a0001c0001t0005g0020 a0001c0001t0005g0043 a0001c0001t0005g0047 a0001c0001t0005g0048 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0053 a0001c0001t0005g0062 a0001c0001t0006g0097 a0001c0001t0006g0099 a0001c0003t0002g0001 a0001c0003t0002g0009 a0001c0003t0002g0098 a0001c0003t0002g0100 a0001c0003t0002g0101 a0001c0003t0002g0102 a0001c0003t0002g0103 a0001c0003t0002g0106 a0001c0003t0002g0107 a0001c0003t0002g0108 a0001c0003t0002g0109 a0001c0003t0002g0111 a0001c0003t0002g0113 a0001c0003t0002g0115 a0001c0003t0002g0116 a0001c0003t0002g0117 a0001c0003t0002g0118 a0001c0003t0002g0120 a0001c0003t0002g0121 a0001c0003t0002g0122 a0001c0003t0002g0123 a0001c0003t0002g0124 a0001c0003t0002g0125 a0001c0003t0002g0126 a0001c0003t0002g0127 a0001c0003t0002g0128 a0001c0003t0002g0137 a0001c0003t0011g0112 a0001c0010t0002g0114 a0001c0012t0002g0129 a0001c0020t0005g0049 a0001c0023t0003g0028 a0003c0004t0003g0005 a0003c0004t0003g0013 a0003c0004t0003g0018 a0003c0004t0003g0025 a0003c0004t0003g0026 a0003c0004t0003g0027 a0003c0004t0003g0031 a0003c0004t0003g0032 a0003c0004t0003g0033 a0003c0004t0003g0034 a0003c0004t0003g0035 a0003c0004t0003g0036 a0003c0004t0003g0037 a0003c0004t0003g0038 a0003c0004t0003g0039 a0003c0004t0003g0040 a0003c0004t0003g0044 a0003c0004t0003g0045 a0003c0004t0003g0054 a0003c0004t0003g0056 a0003c0004t0003g0057 a0003c0004t0003g0058 a0003c0004t0003g0059 a0003c0004t0003g0060 a0003c0004t0003g0095 a0003c0004t0003g0096 a0005c0006t0002g0130 a0005c0006t0002g0131 a0005c0006t0002g0132 a0005c0006t0002g0133 a0005c0006t0002g0134 a0005c0006t0002g0135 a0005c0006t0002g0138 a0005c0006t0002g0140 a0005c0006t0002g0141 a0005c0006t0002g0142 a0005c0006t0002g0197 a0006c0007t0002g0139 a0006c0007t0002g0143 a0006c0007t0002g0144 a0008c0009t0008g0016 a0008c0009t0009g0015 a0009c0025t0002g0119 a0012c0014t0002g0104 a0013c0017t0005g0055 a0014c0018t0003g0024 a0015c0013t0002g0110 a0016c0011t0002g0105 a0018c0021t0003g0046 a0019c0022t0003g0064	113	209	0.5407	-298	c.120 others(14): Show c.120-310_120-13del	TPTE	ENSG00000274391.5	transcript	ENST00000618007.5	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr21	TogoVar
WWTR1_chr3_149512235_149663025	149627800	CGGTGGCT others(291): Show CGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGAAGGGGCA GATCACCAGAGGTCGGGAGCTCGCGACTAGCCTGATCAACATGGAGAAAC CCCGTCTCTACTAAAAAAGCAAAATTAGCCAGCCATGGTAGCACATGTCT GTAATCCCAGCTACTCGGGAGGCTGAGGCAGAAAAATCGCTTGAACCTGG GAGGTGGGGGTTGCGGTGAGCCGAGATGGCGCCATTGCGCTGTAGCCTGG GCAACAAGAGCGAAACTCCGTCTCGAAAAAAAAAAAAAAAGCCAGGCGA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00544.hp1 NA19062.hp1 HG00438.hp1 HG00544.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0003 a0001c0001t0005 a0001c0002t0003	a0001c0001t0005g0155 a0001c0002t0003g0224 a0001c0002t0003g0234 a0001c0001t0005g0155 a0001c0002t0003g0224 a0001c0002t0003g0234	3	334	0.0090	-298	c.431 others(19): Show c.431+28778_431+29075del	WWTR1	ENSG00000018408.15	transcript	ENST00000360632.8	protein_coding	2/6			chr3	TogoVar
ZNF276_chr16_89716537_89745925	89732774	ACCCTGAC others(291): Show ACCCTGACCCTGCTGTACCCTGCGCCCTCACCCTCTGCTGTGTTCACCTG ACCCTGCTGTGTCCTGCGCCCTTGCCCTCTGCTGTGCTCGCCCTGACCCT GCTGTACCCCGCTGTACCCTGCGCCCTCGCCCTCTGCTGTGTTCACCCCG ACCCTGCTGTACCCTGCGCCCTCATCCTCTGCTGTGCCCTCCCCCTCTGC TGTGTTCGCCCTGACCCTGCTGTACCCTGCGCCCTCGCCCTCTGCTGTGT TTGCCCTGACCCTGCTGTACCCTGCGCCCTCGCCCTCTGCTGTGTTCAC	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0220	1	420	0.0024	-298	c.117 others(17): Show c.1170-512_1170-215del	ZNF276	ENSG00000158805.12	transcript	ENST00000443381.7	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
ACYP2_chr2_53966113_54310300	53972038	AGTGGCTC others(290): Show AGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGA TCACGAGGTCAGGAGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCG TCTCTACTAAAAATACAAAAAAGTTAGCCGGGCGTGGTGGCGGACGCCTG TAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAAACCGGA AGGCGGAGGTTGCAGTGAGCCAAGATCGCGCCAGGGCACTCCAGCCTGGG CAACAAGAGCGAAACTCCGTCTCAAAAAATAAAAGGGCCAGGCGCGTG	A A	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG03471.hp1 HG02572.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0107 a0001c0002t0002g0108 a0001c0002t0002g0107 a0001c0002t0002g0108	2	272	0.0074	-297	c.-37 others(16): Show c.-37+763_-37+1059del	ACYP2	ENSG00000170634.13	transcript	ENST00000607452.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANXA2_chr15_60342151_60402986	60366675	GGGGGGGG others(290): Show GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGGGTCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCGGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	G G	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA19065.hp2 HG03831.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0122 a0001c0001t0001g0016 a0001c0001t0001g0122	2	334	0.0060	-297	c.149 others(17): Show c.149-2449_149-2153del	ANXA2	ENSG00000182718.18	transcript	ENST00000451270.7	protein_coding	3/12			chr15	TogoVar
CACNG7_chr19_53904278_53948950	53921722	GCTGGTCA others(290): Show GCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTATTGGTGGAGTTGTCCC AGGTCTGGTCATTGGTGGAGTTGTCCCCAGGTCTGGTCATTGGTGGAGTT GCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTGGA GTTGTCCCAGGCTGGTCATTGGTGGAGTTGTCCCCAGGTCTGGTATTGGT GGAGTTGTCCCCAGGTCTGGTCATTGGTGGAGTTGCCCCAGGCCTGGTCA TTGGTGGAGTTGCCCCAGGCCTGGTCATTGGTGGAGTTGTCCCCAGGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp2 HG00738.hp1 others(31): Show HG00099.hp1 HG00621.hp2 HG00738.hp1 HG00741.hp1 HG01069.hp2 HG01256.hp1 HG01258.hp2 HG01433.hp1 HG01516.hp1 HG01975.hp2 HG02055.hp2 HG02080.hp1 HG02258.hp1 HG02280.hp2 HG02300.hp2 HG02976.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03834.hp1 HG04115.hp1 HG04199.hp2 NA18747.hp1 NA18950.hp1 NA18959.hp2 NA19000.hp2 NA19060.hp1 NA19062.hp1 NA19065.hp2 NA19079.hp2 NA19090.hp1 NA20300.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014	a0001c0001t0001g0007 a0001c0001t0001g0172 a0001c0001t0001g0207 others(30): Show a0001c0001t0001g0007 a0001c0001t0001g0172 a0001c0001t0001g0207 a0001c0001t0001g0213 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0313 a0001c0001t0001g0327 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0338 a0001c0001t0002g0178 a0001c0001t0002g0264 a0001c0001t0002g0282 a0001c0001t0002g0314 a0001c0001t0002g0329 a0001c0001t0004g0054 a0001c0001t0004g0056 a0001c0001t0005g0055 a0001c0001t0006g0351 a0001c0001t0014g0208	34	364	0.0934	-297	c.424 others(17): Show c.424+6237_424+6533del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr19	TogoVar
CACNG7_chr19_53904278_53948950	53923179	GTCTGGTC others(290): Show GTCTGGTCATTGGTGGGGTTGTCCCAGGCTCGTCATTGGTGGAGTTGCCC CAGGTCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGCAGTT GCCCCAGGTCTGGTCATTGGTGGAGTTGACTCAGGCTGGTCATTGGTGGA GTTGCCCCAGGCCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTCATTGG TGGAGTTGTCCCCAGGTCTGGTATTGGTGGAGTTGTCCCCAGGTCTGGTA TTGGTGGAGTTGTCCCCAGGCCTGGTCATTGGTGGAGTTGTCCCAGGT	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02895.hp2 HG02897.hp2 others(4): Show HG02486.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG03098.hp1 HG03471.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0230 a0001c0001t0001g0231 others(4): Show a0001c0001t0001g0213 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0244	7	364	0.0192	-297	c.424 others(17): Show c.424+7675_424+7971del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
CACNG7_chr19_53904278_53948950	53923366	GTCTGGTC others(290): Show GTCTGGTCATTGGTGGAGTTGTCCCCAGGTCTGGTATTGGTGGAGTTGTC CCCAGGTCTGGTATTGGTGGAGTTGTCCCCAGGCCTGGTCATTGGTGGAG TTGTCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGCTGGTCATTGGTG GAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGTCCCAGGTCTGGTCATT GGTGGAGTTGTCCCAGGCTGGTCATTGGTGGAGTTGCCCCAGGTCTGGTC ATTGGTGGAGTTGTCCCAGGTCTGGTCATTGGTGCAGTTGCCCCAGGT	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0058 a0001c0001t0020g0058	1	364	0.0028	-297	c.424 others(17): Show c.424+7862_424+8158del	CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5			chr19	TogoVar
CCDC77_chr12_396644_447642	421013	TACACATA others(290): Show TACACATAGCAGCACACTCCATGCTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAACACACATAGCAGCACCCTCCATGCTCC ATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAATAC ACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTGTGT GCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACACTCCATGTTCCA TTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATAC	T T	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0187 a0004c0004t0001g0187	1	432	0.0023	-297	c.413 others(17): Show c.413+2400_413+2696del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421160	TACACATA others(290): Show TACACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACACTCCATGTT CCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATA CACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGTTC CATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAC	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0005 a0007c0007t0005	a0007c0007t0005g0245 a0007c0007t0005g0245	1	432	0.0023	-297	c.413 others(17): Show c.413+2539_413+2835del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CCDC77_chr12_396644_447642	421752	TACACATA others(290): Show TACACATAGCAGCACACTCCATGCTCCATTACAGTGCTCTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAATACACACATAGCAGCACACTCCATGTT CCATTACAGTGCGCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAATA CACACATAGCAGCACACTCCATGTTCCATTACAGTGCACTTCTGTGTGTG TGTGCTGGGAGTGAGAGGGTAAAATACACATAGCAGCACCCTCCATGTTC CATTACAGTGCTCTTCTGTGTGTGTGTGCTGGGAGTGAGAGGGTAAAC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0148 a0003c0003t0001g0148	1	432	0.0023	-297	c.413 others(17): Show c.413+3131_413+3427del	CCDC77	ENSG00000120647.10	transcript	ENST00000239830.9	protein_coding	5/12		INFO_REALIGN_3_PRIME	chr12	TogoVar
CDK12_chr17_39456486_39539544	39498910	TCTTTCTT others(290): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0110 a0001c0001t0013g0110	1	260	0.0039	-297	c.242 others(19): Show c.2420-2335_2420-2039del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP46_chr10_132803392_132947570	132914292	GCCCGAGG others(290): Show GCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCA GCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGG CCCGAGGCTGTGTCCAGCCACACTGCACCCCGCCCCGAGGCTGTGTCCAG CCACACTGCACCCCGCCCCGAGGCTGTGTCCAGCCACACTGCACCCCGGC CCGAGGCTGTGTCCAGCCACACTGCACCCCGGCCCGAGGCTGTGTCCAGC CACACTGCACCCCGGCCCGAGGCTGTGTCCAGCCACACTGCACCCCGC	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01099.hp2 HG01255.hp1 others(2): Show HG00673.hp1 HG01099.hp2 HG01255.hp1 HG01496.hp2 HG04204.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0030 a0036	a0001c0030 a0002c0003 a0004c0005 others(2): Show a0001c0030 a0002c0003 a0004c0005 a0030c0066 a0036c0051	a0001c0030t0002 a0002c0003t0001 a0004c0005t0002 others(2): Show a0001c0030t0002 a0002c0003t0001 a0004c0005t0002 a0030c0066t0001 a0036c0051t0001	a0001c0030t0002g0039 a0002c0003t0001g0181 a0004c0005t0002g0016 others(2): Show a0001c0030t0002g0039 a0002c0003t0001g0181 a0004c0005t0002g0016 a0030c0066t0001g0231 a0036c0051t0001g0180	5	246	0.0203	-297	c.212 others(19): Show c.2121-1331_2121-1035del	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	17/57			chr10	TogoVar
CFAP54_chr12_96484577_96880555	96827127	ATTATATG others(290): Show ATTATATGTGATTATATATAATGTGCAATTATATGTGATTATATATAATG TGCAGTTATATGTGATTATATATAATGTGCAGTTATATGTGATTATATAT AATGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGATTAT ATATAGTGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATATGTGA TTATATATAGTGTGCAGTTATATGTGATTATATATAGTGTGCAGTTATAT GTGATTATATATAGTGTGCAGTTATATGTGATTATATATAGTGTGCAG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0177 a0002c0003t0001g0177	1	268	0.0037	-297	c.909 others(19): Show c.9097-1867_9097-1571del	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CLIC4_chr1_24740447_24849321	24799714	CCGCCCGG others(290): Show CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCC TGCCCGGCCAGCTGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCC GGGGGGGGGGGTCAGCCCCCCCACCTGGCCAGCCGCCCCGTCTGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02145.hp2 HG04204.hp1 HG01261.hp1 HG02145.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0254 a0001c0001t0001g0299 a0001c0001t0001g0048 a0001c0001t0001g0254 a0001c0001t0001g0299	3	344	0.0087	-297	c.182 others(17): Show c.182+1865_182+2161del	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIC4_chr1_24740447_24849321	24799914	GGGGGGGG others(290): Show GGGGGGGGGGGTCAGCCCCCCCACCTGGCCAGCCGCCCCGTCTGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCTG CCCGGCCAGCTGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCACCCCGTCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp1 HG01069.hp1 others(36): Show HG00099.hp2 HG00438.hp1 HG01069.hp1 HG01109.hp2 HG01123.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp1 HG02027.hp2 HG02056.hp1 HG02083.hp2 HG02109.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02615.hp2 HG02630.hp1 HG02965.hp1 HG02965.hp2 HG03453.hp1 HG03486.hp1 NA18906.hp2 NA18942.hp1 NA18945.hp1 NA18954.hp1 NA18957.hp2 NA18971.hp2 NA18983.hp1 NA18984.hp1 NA18991.hp2 NA18993.hp1 NA18998.hp2 NA19003.hp2 NA19004.hp2 NA19009.hp2 NA19065.hp2 NA19089.hp1 NA20300.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 others(36): Show a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0073 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0105 a0001c0001t0001g0253 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0268 a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0290 a0001c0001t0001g0296 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0317 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0237 a0001c0001t0002g0244 a0001c0002t0001g0305	39	344	0.1134	-297	c.182 others(17): Show c.182+2074_182+2370del	CLIC4	ENSG00000169504.15	transcript	ENST00000374379.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
CLIP2_chr7_74284407_74410935	74369858	AAAAAAAA others(290): Show AAAAAAAAAAAAAAAAAAAAATCCAGGCACGGTGGCTCATGCCTGTAATC CCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACGAGGTCAGGAGCTCCA AACCAGCCTGGCTAACATGGCGAAACCCCATCTCTACTAAAAATACAAAA ATTAGCTGGGCATAGTGGTGCTTGCCTGTAATTCCAGCTACTCGGAAGGC TGAGGCAGGAGAATCGCTTGAACCCAGGAGGCAGAGGTTGCTGAGCCAGG CTCCCTCCACTGCACTCCAGCCTGAGTAACAGAGCGAGACTCTGCCTC	A A	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00639.hp1 HG00673.hp2 others(10): Show HG00558.hp1 HG00639.hp1 HG00673.hp2 HG00735.hp2 HG01081.hp2 HG01978.hp1 HG02015.hp1 HG02083.hp1 HG02155.hp1 HG02165.hp1 HG02622.hp1 HG02965.hp2 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0020 others(1): Show a0001c0001 a0001c0004 a0001c0020 a0002c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0004t0002 a0001c0020t0006 a0002c0015t0002	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 others(10): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0086 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0244 a0001c0001t0003g0064 a0001c0001t0004g0066 a0001c0004t0002g0175 a0001c0020t0006g0267 a0002c0015t0002g0135	13	278	0.0468	-297	c.138 others(19): Show c.1381-3006_1381-2710del	CLIP2	ENSG00000106665.16	transcript	ENST00000223398.11	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
DLG1_chr3_197037560_197303612	197132625	CATACTGC others(290): Show CATACTGCTGAAATACACATTAAATAGCTGTGGCATACTGCTGAAATACA CATTAAATAGCTGTGGCATACTGCTGAAATACACATTAAATAGCTGTGGC ATACTGCTGAAATACACATTAAATAGCTGTGGCATACTGCTGAAATACAC ATTAAATAGCTGTGGCATACTGCTGAAATACACATTAAATAGCTGTGGCA TACTGCTGAAATACACATTAAATAGCTGTGGTATACTGCTGAAATACACA TTAAATAGCTGTGGTATACTGCTGAAATACACATTAAATAGCTGTGGT	C C	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0210 a0001c0003t0004g0210	1	332	0.0030	-297	c.102 others(19): Show c.1021-2251_1021-1955del	DLG1	ENSG00000075711.21	transcript	ENST00000667157.1	protein_coding	10/24			chr3	TogoVar
DLGAP2_chr8_732628_1713476	1351311	TGTGTGGA others(290): Show TGTGTGGAAAGGCCGTGCGGGTCCTGAGTGTGGAACGGCCGTGCGGGTCC TGACTGTGTGTGGAAAGGCCGTGCGGGTCCTGAGTGTGTGTGGATAGGCT GTGCGGGTCCTGACTGTGTGTGGAAAGGCCGTGTGGGTCCTGACTGTGTG TGGAAAGGCCGTGCGGGTCCTGAGTGTGTGTGGATAGGCTGTGCGGGTCC TGACTGTGTGTGGAAAGGCCGTGTGGGTCCTGACTGTGTGTGGAAAGGAC GTGCGGGTCCTGACTGTGTGTGGAAAGGACGTGCGCGTCCTGCGTGTG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG02647.hp2 HG02258.hp1 HG02647.hp1 HG02647.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0017 a0002c0001t0002 a0002c0001t0005 a0001c0003t0017 a0002c0001t0002 a0002c0001t0005	a0001c0003t0017g0004 a0002c0001t0002g0013 a0002c0001t0005g0028 a0001c0003t0017g0004 a0002c0001t0002g0013 a0002c0001t0005g0028	3	40	0.0750	-297	c.106 others(19): Show c.106+92430_106+92726del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH5_chr5_13685328_13949688	13894973	GAAAAGAA others(290): Show GAAAAGAAGACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCC GGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(245): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA19002.hp1 NA19002.hp2 NA19006.hp1 NA19006.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19062.hp1 NA19062.hp2 NA19068.hp1 NA19068.hp2 NA19078.hp1 NA19078.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(141): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0048 a0050 a0051 a0052 a0053 a0054 a0055 a0056 a0057 a0058 a0059 a0060 a0061 a0062 a0063 a0064 a0065 a0066 a0067 a0068 a0069 a0070 a0071 a0072 a0073 a0074 a0075 a0076 a0077 a0078 a0079 a0080 a0081 a0082 a0083 a0084 a0085 a0086 a0087 a0088 a0089 a0090 a0091 a0092 a0093 a0094 a0095 a0096 a0097 a0098 a0099 a0100 a0101 a0102 a0103 a0104 a0105 a0106 a0107 a0108 a0109 a0110 a0111 a0112 a0113 a0114 a0115 a0116 a0117 a0118 a0119 a0120 a0121 a0122 a0123 a0124 a0126 a0127 a0128 a0129 a0130 a0131 a0132 a0133 a0134 a0135 a0136 a0137 a0138 a0139 a0140 a0141 a0142 a0143 a0144 a0145 a0146 a0147	a0001c0006 a0001c0035 a0001c0128 others(199): Show a0001c0006 a0001c0035 a0001c0128 a0001c0130 a0001c0143 a0001c0162 a0002c0001 a0002c0129 a0002c0175 a0002c0180 a0003c0013 a0003c0015 a0003c0075 a0003c0080 a0004c0010 a0004c0058 a0004c0112 a0004c0118 a0004c0121 a0005c0016 a0005c0019 a0005c0081 a0006c0003 a0006c0041 a0006c0093 a0007c0052 a0007c0068 a0007c0069 a0007c0070 a0007c0116 a0008c0026 a0008c0056 a0008c0063 a0008c0065 a0009c0007 a0009c0170 a0009c0171 a0010c0002 a0011c0011 a0011c0072 a0011c0082 a0012c0012 a0012c0078 a0012c0084 a0013c0004 a0013c0117 a0014c0131 a0014c0132 a0014c0166 a0014c0179 a0015c0033 a0015c0161 a0015c0176 a0016c0036 a0016c0200 a0017c0008 a0018c0017 a0018c0090 a0019c0018 a0019c0089 a0020c0014 a0020c0076 a0021c0040 a0021c0087 a0021c0092 a0022c0020 a0022c0091 a0023c0022 a0023c0097 a0024c0045 a0024c0108 a0024c0111 a0025c0053 a0025c0067 a0025c0119 a0026c0005 a0027c0145 a0027c0147 a0027c0148 a0028c0034 a0028c0177 a0029c0027 a0030c0021 a0031c0088 a0031c0094 a0032c0023 a0033c0009 a0034c0024 a0035c0025 a0036c0030 a0037c0183 a0037c0184 a0038c0029 a0039c0031 a0041c0164 a0041c0178 a0042c0159 a0042c0173 a0043c0032 a0044c0169 a0044c0181 a0045c0028 a0046c0199 a0047c0198 a0048c0201 a0050c0196 a0051c0203 a0052c0197 a0053c0195 a0054c0204 a0055c0205 a0056c0206 a0057c0194 a0058c0038 a0059c0037 a0060c0039 a0061c0126 a0062c0125 a0063c0074 a0064c0085 a0065c0079 a0066c0071 a0067c0077 a0068c0095 a0069c0086 a0070c0073 a0071c0083 a0072c0101 a0073c0096 a0074c0099 a0075c0098 a0076c0100 a0077c0102 a0078c0104 a0079c0105 a0080c0106 a0081c0043 a0082c0109 a0083c0107 a0084c0047 a0085c0046 a0086c0110 a0087c0050 a0088c0044 a0089c0049 a0090c0048 a0091c0115 a0092c0114 a0093c0113 a0094c0066 a0095c0051 a0096c0059 a0097c0060 a0098c0122 a0099c0055 a0100c0057 a0101c0120 a0102c0062 a0103c0054 a0104c0061 a0105c0064 a0106c0103 a0107c0123 a0108c0042 a0109c0124 a0110c0186 a0111c0136 a0112c0135 a0113c0133 a0114c0185 a0115c0134 a0116c0139 a0117c0138 a0118c0137 a0119c0149 a0120c0150 a0121c0146 a0122c0157 a0123c0154 a0124c0152 a0126c0151 a0127c0144 a0128c0165 a0129c0163 a0130c0141 a0131c0174 a0132c0172 a0133c0127 a0134c0158 a0135c0160 a0136c0142 a0137c0182 a0138c0168 a0139c0167 a0140c0190 a0141c0192 a0142c0191 a0143c0187 a0144c0189 a0145c0188 a0146c0193 a0147c0140	a0001c0006t0002 a0001c0006t0023 a0001c0035t0002 others(204): Show a0001c0006t0002 a0001c0006t0023 a0001c0035t0002 a0001c0128t0005 a0001c0130t0017 a0001c0143t0006 a0001c0162t0002 a0002c0001t0001 a0002c0129t0009 a0002c0175t0001 a0002c0180t0012 a0003c0013t0002 a0003c0015t0001 a0003c0015t0002 a0003c0075t0002 a0003c0080t0002 a0004c0010t0001 a0004c0010t0004 a0004c0058t0001 a0004c0112t0001 a0004c0118t0001 a0004c0121t0001 a0005c0016t0001 a0005c0019t0001 a0005c0081t0001 a0006c0003t0002 a0006c0041t0002 a0006c0093t0002 a0007c0052t0002 a0007c0068t0001 a0007c0069t0001 a0007c0070t0003 a0007c0116t0002 a0008c0026t0002 a0008c0056t0003 a0008c0063t0006 a0008c0065t0002 a0009c0007t0002 a0009c0170t0002 a0009c0171t0020 a0010c0002t0002 a0010c0002t0019 a0011c0011t0002 a0011c0072t0002 a0011c0082t0002 a0012c0012t0001 a0012c0078t0001 a0012c0084t0001 a0013c0004t0001 a0013c0117t0001 a0014c0131t0005 a0014c0132t0001 a0014c0166t0002 a0014c0179t0002 a0015c0033t0001 a0015c0161t0001 a0015c0176t0001 a0016c0036t0001 a0016c0200t0016 a0017c0008t0002 a0018c0017t0001 a0018c0090t0001 a0019c0018t0002 a0019c0018t0003 a0019c0089t0002 a0020c0014t0001 a0020c0076t0001 a0021c0040t0001 a0021c0087t0001 a0021c0092t0001 a0022c0020t0001 a0022c0091t0001 a0023c0022t0002 a0023c0097t0006 a0024c0045t0001 a0024c0108t0001 a0024c0111t0007 a0025c0053t0004 a0025c0067t0009 a0025c0119t0001 a0026c0005t0001 a0027c0145t0002 a0027c0147t0006 a0027c0148t0001 a0028c0034t0001 a0028c0177t0001 a0029c0027t0004 a0030c0021t0002 a0031c0088t0008 a0031c0094t0008 a0032c0023t0002 a0033c0009t0003 a0034c0024t0007 a0035c0025t0006 a0036c0030t0002 a0037c0183t0002 a0037c0184t0002 a0038c0029t0001 a0039c0031t0002 a0041c0164t0001 a0041c0178t0001 a0042c0159t0002 a0042c0173t0002 a0043c0032t0001 a0044c0169t0001 a0044c0181t0001 a0045c0028t0001 a0046c0199t0001 a0047c0198t0002 a0048c0201t0001 a0050c0196t0001 a0051c0203t0002 a0052c0197t0014 a0053c0195t0001 a0054c0204t0009 a0055c0205t0001 a0056c0206t0002 a0057c0194t0002 a0058c0038t0005 a0059c0037t0011 a0060c0039t0007 a0061c0126t0004 a0062c0125t0004 a0063c0074t0002 a0064c0085t0018 a0065c0079t0002 a0066c0071t0002 a0067c0077t0001 a0068c0095t0001 a0069c0086t0002 a0070c0073t0002 a0071c0083t0001 a0072c0101t0001 a0073c0096t0005 a0074c0099t0001 a0075c0098t0001 a0076c0100t0002 a0077c0102t0001 a0078c0104t0002 a0079c0105t0013 a0080c0106t0002 a0081c0043t0003 a0082c0109t0002 a0083c0107t0001 a0084c0047t0004 a0085c0046t0003 a0086c0110t0002 a0087c0050t0008 a0088c0044t0003 a0089c0049t0003 a0090c0048t0002 a0091c0115t0002 a0092c0114t0001 a0093c0113t0001 a0094c0066t0001 a0095c0051t0001 a0096c0059t0001 a0097c0060t0002 a0098c0122t0001 a0099c0055t0003 a0100c0057t0001 a0101c0120t0025 a0102c0062t0002 a0103c0054t0001 a0104c0061t0001 a0105c0064t0001 a0106c0103t0002 a0107c0123t0001 a0108c0042t0001 a0109c0124t0005 a0110c0186t0002 a0111c0136t0001 a0112c0135t0002 a0113c0133t0007 a0114c0185t0001 a0115c0134t0001 a0116c0139t0002 a0117c0138t0001 a0118c0137t0001 a0119c0149t0022 a0120c0150t0002 a0121c0146t0002 a0122c0157t0002 a0123c0154t0001 a0124c0152t0002 a0126c0151t0002 a0127c0144t0002 a0128c0165t0001 a0129c0163t0010 a0130c0141t0002 a0131c0174t0008 a0132c0172t0002 a0133c0127t0005 a0134c0158t0001 a0135c0160t0002 a0136c0142t0002 a0137c0182t0001 a0138c0168t0024 a0139c0167t0021 a0140c0190t0001 a0141c0192t0001 a0142c0191t0002 a0143c0187t0015 a0144c0189t0002 a0145c0188t0002 a0146c0193t0001 a0147c0140t0002	a0001c0006t0002g0120 a0001c0006t0002g0132 a0001c0006t0023g0233 others(245): Show a0001c0006t0002g0120 a0001c0006t0002g0132 a0001c0006t0023g0233 a0001c0035t0002g0158 a0001c0035t0002g0171 a0001c0128t0005g0012 a0001c0130t0017g0190 a0001c0143t0006g0195 a0001c0162t0002g0123 a0002c0001t0001g0121 a0002c0001t0001g0130 a0002c0001t0001g0169 a0002c0001t0001g0175 a0002c0129t0009g0191 a0002c0175t0001g0173 a0002c0180t0012g0167 a0003c0013t0002g0041 a0003c0013t0002g0063 a0003c0015t0001g0054 a0003c0015t0002g0104 a0003c0075t0002g0045 a0003c0080t0002g0061 a0004c0010t0001g0101 a0004c0010t0004g0248 a0004c0058t0001g0100 a0004c0112t0001g0033 a0004c0118t0001g0037 a0004c0121t0001g0093 a0005c0016t0001g0088 a0005c0016t0001g0108 a0005c0019t0001g0057 a0005c0019t0001g0077 a0005c0081t0001g0064 a0006c0003t0002g0040 a0006c0003t0002g0070 a0006c0003t0002g0083 a0006c0041t0002g0038 a0006c0093t0002g0049 a0007c0052t0002g0102 a0007c0068t0001g0156 a0007c0069t0001g0154 a0007c0070t0003g0237 a0007c0116t0002g0058 a0008c0026t0002g0036 a0008c0026t0002g0053 a0008c0056t0003g0250 a0008c0063t0006g0151 a0008c0065t0002g0016 a0009c0007t0002g0126 a0009c0007t0002g0165 a0009c0007t0002g0180 a0009c0170t0002g0115 a0009c0171t0020g0176 a0010c0002t0002g0211 a0010c0002t0002g0212 a0010c0002t0002g0231 a0010c0002t0019g0228 a0011c0011t0002g0080 a0011c0011t0002g0157 a0011c0072t0002g0079 a0011c0082t0002g0086 a0012c0012t0001g0078 a0012c0012t0001g0110 a0012c0078t0001g0084 a0012c0084t0001g0059 a0013c0004t0001g0089 a0013c0004t0001g0090 a0013c0004t0001g0111 a0013c0117t0001g0105 a0014c0131t0005g0011 a0014c0132t0001g0192 a0014c0166t0002g0117 a0014c0179t0002g0181 a0015c0033t0001g0170 a0015c0033t0001g0183 a0015c0161t0001g0114 a0015c0176t0001g0164 a0016c0036t0001g0219 a0016c0036t0001g0220 a0016c0200t0016g0217 a0017c0008t0002g0214 a0017c0008t0002g0215 a0017c0008t0002g0216 a0018c0017t0001g0071 a0018c0017t0001g0073 a0018c0090t0001g0068 a0019c0018t0002g0085 a0019c0018t0003g0246 a0019c0089t0002g0103 a0020c0014t0001g0020 a0020c0014t0001g0072 a0020c0076t0001g0076 a0021c0040t0001g0044 a0021c0087t0001g0066 a0021c0092t0001g0106 a0022c0020t0001g0067 a0022c0020t0001g0109 a0022c0091t0001g0050 a0023c0022t0002g0095 a0023c0022t0002g0096 a0023c0097t0006g0146 a0024c0045t0001g0060 a0024c0108t0001g0035 a0024c0111t0007g0008 a0025c0053t0004g0244 a0025c0067t0009g0155 a0025c0119t0001g0091 a0026c0005t0001g0022 a0026c0005t0001g0048 a0026c0005t0001g0179 a0027c0145t0002g0168 a0027c0147t0006g0188 a0027c0148t0001g0189 a0028c0034t0001g0112 a0028c0034t0001g0174 a0028c0177t0001g0127 a0029c0027t0004g0242 a0029c0027t0004g0252 a0030c0021t0002g0051 a0030c0021t0002g0207 a0031c0088t0008g0032 a0031c0094t0008g0043 a0032c0023t0002g0039 a0032c0023t0002g0074 a0033c0009t0003g0240 a0033c0009t0003g0241 a0034c0024t0007g0002 a0034c0024t0007g0003 a0035c0025t0006g0149 a0035c0025t0006g0152 a0036c0030t0002g0136 a0036c0030t0002g0137 a0037c0183t0002g0140 a0037c0184t0002g0135 a0038c0029t0001g0162 a0038c0029t0001g0163 a0039c0031t0002g0208 a0039c0031t0002g0209 a0041c0164t0001g0118 a0041c0178t0001g0138 a0042c0159t0002g0198 a0042c0173t0002g0201 a0043c0032t0001g0124 a0043c0032t0001g0129 a0044c0169t0001g0196 a0044c0181t0001g0172 a0045c0028t0001g0159 a0045c0028t0001g0160 a0046c0199t0001g0221 a0047c0198t0002g0218 a0048c0201t0001g0210 a0050c0196t0001g0213 a0051c0203t0002g0230 a0052c0197t0014g0224 a0053c0195t0001g0223 a0054c0204t0009g0226 a0055c0205t0001g0225 a0056c0206t0002g0229 a0057c0194t0002g0222 a0058c0038t0005g0004 a0059c0037t0011g0006 a0060c0039t0007g0005 a0061c0126t0004g0251 a0062c0125t0004g0247 a0063c0074t0002g0056 a0064c0085t0018g0062 a0065c0079t0002g0019 a0066c0071t0002g0081 a0067c0077t0001g0046 a0068c0095t0001g0087 a0069c0086t0002g0065 a0070c0073t0002g0082 a0071c0083t0001g0153 a0072c0101t0001g0055 a0073c0096t0005g0007 a0074c0099t0001g0097 a0075c0098t0001g0042 a0076c0100t0002g0075 a0077c0102t0001g0028 a0078c0104t0002g0031 a0079c0105t0013g0094 a0080c0106t0002g0029 a0081c0043t0003g0239 a0082c0109t0002g0034 a0083c0107t0001g0027 a0084c0047t0004g0236 a0085c0046t0003g0235 a0086c0110t0002g0030 a0087c0050t0008g0099 a0088c0044t0003g0249 a0089c0049t0003g0238 a0090c0048t0002g0052 a0091c0115t0002g0014 a0092c0114t0001g0141 a0093c0113t0001g0142 a0094c0066t0001g0150 a0095c0051t0001g0098 a0096c0059t0001g0148 a0097c0060t0002g0147 a0098c0122t0001g0092 a0099c0055t0003g0243 a0100c0057t0001g0015 a0101c0120t0025g0245 a0102c0062t0002g0017 a0103c0054t0001g0107 a0104c0061t0001g0018 a0105c0064t0001g0021 a0106c0103t0002g0145 a0107c0123t0001g0143 a0108c0042t0001g0069 a0109c0124t0005g0009 a0110c0186t0002g0113 a0111c0136t0001g0184 a0112c0135t0002g0047 a0113c0133t0007g0010 a0114c0185t0001g0128 a0115c0134t0001g0161 a0116c0139t0002g0199 a0117c0138t0001g0178 a0118c0137t0001g0185 a0119c0149t0022g0232 a0120c0150t0002g0182 a0121c0146t0002g0119 a0122c0157t0002g0133 a0123c0154t0001g0202 a0124c0152t0002g0131 a0126c0151t0002g0187 a0127c0144t0002g0194 a0128c0165t0001g0122 a0129c0163t0010g0001 a0130c0141t0002g0134 a0131c0174t0008g0177 a0132c0172t0002g0200 a0133c0127t0005g0013 a0134c0158t0001g0197 a0135c0160t0002g0125 a0136c0142t0002g0144 a0137c0182t0001g0166 a0138c0168t0024g0234 a0139c0167t0021g0116 a0140c0190t0001g0024 a0141c0192t0001g0026 a0142c0191t0002g0186 a0143c0187t0015g0206 a0144c0189t0002g0023 a0145c0188t0002g0025 a0146c0193t0001g0193 a0147c0140t0002g0139	248	252	0.9841	-297	c.226 others(17): Show c.2260-449_2260-153del	DNAH5	ENSG00000039139.11	transcript	ENST00000265104.5	protein_coding	15/78			chr5	TogoVar
EID2B_chr19_39525987_39537852	39526727	GGTGATCC others(290): Show GGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACTGGACCCGGCCTTTTTTTTTTTTTTTTGAGACAGTCTTGCTCTGTC ACCCAGGCTGGAGTGCAGTGGTGGGATCTTGGCTCACTGCAACCTCCACC TCCCAGGTTCAAGCAATCCTTCCTGCCTCAGCCTCCTGAGTAGCAGGGAT TACAGGAGTGCCCCACCACATCCAGCTAATTTTTGTATTTTTAGTAGAGA CGGGGCTTCGCCATGTTGGCCAGGCTGGTCTTGGATTCCTGACCTCAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	418	0.0024	-297	c.52 others(11): Show c.5293_*5589del	EID2B	ENSG00000176401.6	transcript	ENST00000326282.5	protein_coding		4259		chr19	TogoVar
ERBB4_chr2_211370717_212543802	211686520	TGCCTCTA others(290): Show TGCCTCTAGATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAT GGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAAT CTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTA ATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAA	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01175.hp1 others(52): Show HG01069.hp1 HG01069.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01496.hp1 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02615.hp1 HG02615.hp2 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG03834.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0002t0001 a0001c0002t0013 a0001c0002t0016 a0001c0002t0018 a0001c0004t0021 a0002c0003t0001	a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0002g0016 others(52): Show a0001c0001t0001g0021 a0001c0001t0001g0045 a0001c0001t0002g0016 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0047 a0001c0001t0003g0017 a0001c0001t0003g0040 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0004g0008 a0001c0001t0004g0011 a0001c0001t0004g0033 a0001c0001t0005g0015 a0001c0001t0005g0035 a0001c0001t0005g0044 a0001c0001t0006g0026 a0001c0001t0006g0039 a0001c0001t0007g0018 a0001c0001t0007g0043 a0001c0001t0008g0004 a0001c0001t0008g0013 a0001c0001t0009g0023 a0001c0001t0009g0046 a0001c0001t0010g0005 a0001c0001t0010g0022 a0001c0001t0011g0041 a0001c0001t0011g0042 a0001c0001t0012g0001 a0001c0001t0014g0007 a0001c0001t0015g0034 a0001c0001t0017g0029 a0001c0001t0019g0002 a0001c0001t0020g0028 a0001c0001t0022g0006 a0001c0001t0023g0012 a0001c0001t0024g0038 a0001c0001t0025g0051 a0001c0001t0026g0052 a0001c0001t0027g0055 a0001c0001t0028g0053 a0001c0001t0029g0054 a0001c0001t0030g0056 a0001c0002t0001g0020 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0048 a0001c0002t0013g0027 a0001c0002t0016g0019 a0001c0002t0018g0010 a0001c0004t0021g0009 a0002c0003t0001g0014	55	56	0.9821	-297	c.149 others(19): Show c.1490-7633_1490-7337del	ERBB4	ENSG00000178568.16	transcript	ENST00000342788.9	protein_coding	12/27			chr2	TogoVar
ERCC2_chr19_45344837_45375573	45360162	GCTCTGCC others(290): Show GCTCTGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCTGAGCAG CTGGGACTACAGGCGCCCGCCACCACGCCCAGCTAACTTTTTTTGTATTT TTAGTAGAGACGGAGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCT GACCTCGAGATCCGCCCGCCTCGGCCTCCCAAAGTACTGGGATTACAGGC GTAAACCACCACGCCCGGCCTTTTTTTTTTTTTTGAGACGAAGTCTTGCT CTGTTGCCCAGGCTGGAGTGCAGTGCCACAATCTTGGCTCACTGTAAC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0205 a0001c0002t0002g0205	1	412	0.0024	-297	c.123 others(19): Show c.1237+1065_1237+1361del	ERCC2	ENSG00000104884.17	transcript	ENST00000391945.10	protein_coding	12/22			chr19	TogoVar
EXOC3L4_chr14_103089725_103115559	103109392	TCTCCCTC others(290): Show TCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCT CCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTG CCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGTCCCCATGTCTCCC TCCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTC TCCACCCTGCCCCCATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCC ATGTCTCCCTCCTCCCTCCCTCTCCACCCTGCCCCCATGTCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG03209.hp1 HG00597.hp2 HG03209.hp1	a0001 a0007 a0001 a0007	a0001c0003 a0007c0064 a0001c0003 a0007c0064	a0001c0003t0002 a0007c0064t0009 a0001c0003t0002 a0007c0064t0009	a0001c0003t0002g0323 a0007c0064t0009g0349 a0001c0003t0002g0323 a0007c0064t0009g0349	2	404	0.0050	-297	c.197 others(17): Show c.1977-630_1977-334del	EXOC3L4	ENSG00000205436.8	transcript	ENST00000688303.1	protein_coding	11/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
FBLN7_chr2_112133385_112193218	112139316	CAGCGTCC others(290): Show CAGCGTCCCTCCCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTCC AGGTCAGTGTCCCTCCCGCCTCTCTCCAGGCCAGTGTCCCTCCCGCCTCT CTCCAGGCCAGTGTCCCTCACGCCTCTCTCCAGGTCAGTGTCCCTCCCGC CTCTCTCCAGGCTAGTGTCCCTCCCGCCTCTCTCCAGGCCAGCGTCCCTC CCGCCTCTCTCCAGGTCAGCGTCCCTCCCGCCTCTCTCCAGGCCAGCGTC CCTCCCGCCTCTCTCCACGCCAGTGTCCCTCCCGCCTCTCTCCAGGCT	C C	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03453.hp2 HG02896.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0092 a0001c0001t0001g0093	2	346	0.0058	-297	c.75+ others(13): Show c.75+589_75+885del	FBLN7	ENSG00000144152.13	transcript	ENST00000331203.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
FSIP2_chr2_185733804_185838290	185835299	AATTTCAT others(290): Show AATTTCATTTAATGTTACATGTCATAACATAGAATTTTTCTTTTGATTTT TTTCAATAATTTGAAAATATAAAAATTATTCTTAGGTTTATTAAAGACAA GTGACAGGACAGATTTAGCCCATGCTGATTTCTGTACTATAATAATTTGG AACTCATGAATAAGCTTATTTTTATATGAAGGTACTGATTATTGACTTAA AATAATACTAGTAAAGGTTCAAATTCTGTTGCGGGAAGTCAGGGACCCTG AATGGAGGGACAAGCTGGAGCTGCGGCAGAGGAACATAAATTGTGAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0048 a0048	a0048c0073 a0048c0073	a0048c0073t0001 a0048c0073t0001	a0048c0073t0001g0275 a0048c0073t0001g0275	1	370	0.0027	-297	c.20 others(11): Show c.2074_*2370del	FSIP2	ENSG00000188738.16	transcript	ENST00000424728.6	protein_coding		2010		chr2	TogoVar
GNRH2_chr20_3038622_3050747	3041109	ACAGTGAG others(290): Show ACAGTGAGCTGTGATCATGCCACTGCACTCCAGCCTGGGTCAAAGAGTGA GACCCTGTCTCAAAAAAAAAAAAAAATAGGCCGGGCACAGTGGCTAATGC CTATAATCCCAGCACTTTGGGAGGCCAAGGCGGACGGATCACCTGAGGTC AGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCATCTCTACTAAAA ATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAATCCCAGCTACC GGGGAGGCTGAGGCAAGAGAATTGCTGGAACCTGGGAGGCAGAAACTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(105): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00597.hp1 HG00609.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01109.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01496.hp1 HG01928.hp2 HG01943.hp1 HG01978.hp1 HG02004.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02738.hp2 HG02818.hp1 HG02896.hp1 HG02965.hp2 HG03139.hp1 HG03209.hp2 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18939.hp1 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp2 NA18953.hp2 NA18957.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18973.hp1 NA18974.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18998.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19054.hp1 NA19058.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19070.hp1 NA19074.hp2 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp1 NA20300.hp2 NA20905.hp1	a0000 a0002 a0000 a0002	a0000c0002 a0002c0003 a0000c0002 a0002c0003	a0000c0002t0001 a0000c0002t0002 a0002c0003t0001 a0000c0002t0001 a0000c0002t0002 a0002c0003t0001	a0000c0002t0001g0002 a0000c0002t0001g0005 a0000c0002t0002g0002 others(2): Show a0000c0002t0001g0002 a0000c0002t0001g0005 a0000c0002t0002g0002 a0000c0002t0002g0020 a0002c0003t0001g0002	108	446	0.2422	-297	c.-25 others(11): Show c.-2563_-2267del	GNRH2	ENSG00000125787.11	transcript	ENST00000359100.6	protein_coding		2512		chr20	TogoVar
GOLGA3_chr12_132763914_132833869	132817554	ACCTCCAC others(290): Show ACCTCCACACTCTAACGTGAACCCGCCCTCCACTCCTCCACGCTCTAAGG TGAACTCACCCTCCACACCTCCACGCTCTAAGGTGAACCCCCCCCCCACA CCTCCACACTCTAAGGTGAACTCACCCTCCACTCCTCCACGCTCTAAGGT GAACCCGCCCTCCACACCTCCACGCTCTAAGGTGAACCCACCCTCCACAC CTCCACGCTCTAAGGTGAACCCGCCCTCCACTCCTCCACGCTCTAAGGTG AACCCGCACTCCACACCTCCACACTCTAACGTGAACCCGCCCTCCACT	A A	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0183 a0002c0002t0012g0183	1	308	0.0033	-297	c.134 others(16): Show c.134-1039_134-743del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23			chr12	TogoVar
GOLGA3_chr12_132763914_132833869	132817642	CCCCCCCC others(290): Show CCCCCCCCCACACCTCCACACTCTAAGGTGAACTCACCCTCCACTCCTCC ACGCTCTAAGGTGAACCCGCCCTCCACACCTCCACGCTCTAAGGTGAACC CACCCTCCACACCTCCACGCTCTAAGGTGAACCCGCCCTCCACTCCTCCA CGCTCTAAGGTGAACCCGCACTCCACACCTCCACACTCTAACGTGAACCC GCCCTCCACTCCTCCACGCTCTAAGGTGAACTCACCCTCCACACCTCCAC GCTCTAAGGTGAACCCCCCCCCCACACCTCCACACTCTAAGGTGAACT	C C	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0301 a0002c0002t0002g0301	1	308	0.0033	-297	c.134 others(16): Show c.134-1127_134-831del	GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	2/23			chr12	TogoVar
GRM7_chr3_6856115_7746533	7305338	TTTTTCTT others(290): Show TTTTTCTTTTTTTTTTTTTTTAATTATACTTTAAGTTTTAGGATACATGT GCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCG CTGCACCCACTAACGTGTCATCTAGCATTAGGTATATCTCCCAATGCTAT CCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCC CTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGA ATATGCAGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGA	T T	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01358.hp1 HG03831.hp2 HG01258.hp2 HG01358.hp1 HG03831.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0016 a0001c0001 a0002c0016	a0001c0001t0001 a0002c0016t0001 a0001c0001t0001 a0002c0016t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0002c0016t0001g0067 a0001c0001t0001g0003 a0001c0001t0001g0005 a0002c0016t0001g0067	3	80	0.0375	-297	c.879 others(16): Show c.879-1155_879-859del	GRM7	ENSG00000196277.17	transcript	ENST00000357716.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
GUCY1A2_chr11_106669019_107023476	106725141	TGACATAA others(290): Show TGACATAAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGGAGGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGT CTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(99): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00408.hp1 HG00544.hp1 HG00639.hp1 HG00642.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01943.hp1 HG01952.hp2 HG02027.hp2 HG02071.hp2 HG02080.hp2 HG02109.hp2 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02965.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18974.hp1 NA18975.hp1 NA18988.hp2 NA19010.hp1 NA19030.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp2 NA19090.hp1 NA20752.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0012 a0001c0013 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(52): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0022 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0040 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0052 a0001c0001t0059 a0001c0001t0062 a0001c0001t0072 a0001c0002t0002 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0012 a0001c0002t0032 a0001c0002t0039 a0001c0002t0047 a0001c0002t0056 a0001c0002t0061 a0001c0002t0067 a0001c0003t0002 a0001c0003t0004 a0001c0003t0014 a0001c0003t0016 a0001c0003t0034 a0001c0004t0001 a0001c0004t0002 a0001c0004t0005 a0001c0004t0006 a0001c0004t0058 a0001c0005t0004 a0001c0005t0009 a0001c0005t0015 a0001c0006t0005 a0001c0006t0006 a0001c0007t0005 a0001c0007t0042 a0001c0010t0005 a0001c0012t0003 a0001c0013t0004 a0002c0011t0013	a0001c0001t0001g0073 a0001c0001t0001g0140 a0001c0001t0002g0050 others(99): Show a0001c0001t0001g0073 a0001c0001t0001g0140 a0001c0001t0002g0050 a0001c0001t0002g0102 a0001c0001t0002g0105 a0001c0001t0002g0133 a0001c0001t0003g0058 a0001c0001t0003g0079 a0001c0001t0003g0086 a0001c0001t0004g0009 a0001c0001t0004g0042 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0113 a0001c0001t0004g0120 a0001c0001t0004g0138 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0005g0027 a0001c0001t0005g0101 a0001c0001t0005g0119 a0001c0001t0005g0134 a0001c0001t0005g0154 a0001c0001t0005g0165 a0001c0001t0006g0043 a0001c0001t0006g0045 a0001c0001t0006g0149 a0001c0001t0006g0152 a0001c0001t0006g0175 a0001c0001t0007g0070 a0001c0001t0007g0071 a0001c0001t0007g0159 a0001c0001t0009g0051 a0001c0001t0009g0052 a0001c0001t0009g0114 a0001c0001t0010g0033 a0001c0001t0010g0034 a0001c0001t0010g0074 a0001c0001t0010g0100 a0001c0001t0010g0121 a0001c0001t0013g0032 a0001c0001t0013g0060 a0001c0001t0013g0061 a0001c0001t0015g0104 a0001c0001t0015g0107 a0001c0001t0022g0028 a0001c0001t0022g0108 a0001c0001t0036g0115 a0001c0001t0037g0075 a0001c0001t0038g0092 a0001c0001t0040g0078 a0001c0001t0044g0029 a0001c0001t0045g0106 a0001c0001t0046g0030 a0001c0001t0052g0117 a0001c0001t0059g0053 a0001c0001t0062g0005 a0001c0001t0072g0090 a0001c0002t0002g0185 a0001c0002t0002g0186 a0001c0002t0004g0182 a0001c0002t0004g0183 a0001c0002t0004g0184 a0001c0002t0005g0222 a0001c0002t0006g0206 a0001c0002t0012g0181 a0001c0002t0032g0180 a0001c0002t0039g0215 a0001c0002t0047g0197 a0001c0002t0056g0195 a0001c0002t0061g0193 a0001c0002t0067g0176 a0001c0003t0002g0229 a0001c0003t0004g0234 a0001c0003t0004g0235 a0001c0003t0004g0247 a0001c0003t0014g0239 a0001c0003t0014g0243 a0001c0003t0016g0237 a0001c0003t0016g0244 a0001c0003t0034g0242 a0001c0004t0001g0212 a0001c0004t0001g0219 a0001c0004t0002g0221 a0001c0004t0005g0227 a0001c0004t0006g0220 a0001c0004t0006g0226 a0001c0004t0058g0217 a0001c0005t0004g0048 a0001c0005t0009g0168 a0001c0005t0015g0044 a0001c0006t0005g0203 a0001c0006t0005g0210 a0001c0006t0005g0213 a0001c0006t0006g0216 a0001c0007t0005g0018 a0001c0007t0005g0025 a0001c0007t0042g0128 a0001c0010t0005g0166 a0001c0012t0003g0207 a0001c0013t0004g0248 a0002c0011t0013g0031	102	256	0.3984	-297	c.183 others(21): Show c.1837-16772_1837-16476del	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
IL1RAP_chr3_190509085_190656514	190572850	TAATGCTT others(290): Show TAATGCTTTGTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTTCTGGGATTACAGGCGTGAG	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp2 others(93): Show HG00099.hp1 HG00140.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp2 HG00621.hp1 HG00621.hp2 HG00738.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01256.hp2 HG01358.hp1 HG01433.hp1 HG01433.hp2 HG01516.hp1 HG01884.hp1 HG01891.hp2 HG01981.hp1 HG02055.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG06807.hp1 NA18612.hp2 NA18941.hp1 NA18954.hp1 NA18955.hp2 NA18964.hp1 NA18979.hp2 NA18995.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0009 a0001c0010 a0001c0011 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0016 a0001c0001t0021 a0001c0001t0023 a0001c0002t0001 a0001c0002t0003 a0001c0002t0009 a0001c0002t0010 a0001c0002t0012 a0001c0003t0004 a0001c0003t0008 a0001c0003t0014 a0001c0004t0004 a0001c0009t0001 a0001c0010t0009 a0001c0011t0001 a0003c0008t0003	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0014 others(91): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0114 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0173 a0001c0001t0001g0181 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0205 a0001c0001t0001g0225 a0001c0001t0001g0227 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0002g0019 a0001c0001t0002g0044 a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0107 a0001c0001t0002g0137 a0001c0001t0002g0226 a0001c0001t0002g0239 a0001c0001t0005g0154 a0001c0001t0006g0131 a0001c0001t0006g0186 a0001c0001t0006g0195 a0001c0001t0006g0258 a0001c0001t0010g0151 a0001c0001t0016g0157 a0001c0001t0021g0020 a0001c0001t0023g0149 a0001c0002t0001g0025 a0001c0002t0001g0034 a0001c0002t0001g0171 a0001c0002t0001g0266 a0001c0002t0003g0030 a0001c0002t0003g0031 a0001c0002t0003g0036 a0001c0002t0003g0123 a0001c0002t0003g0144 a0001c0002t0003g0153 a0001c0002t0003g0161 a0001c0002t0003g0164 a0001c0002t0003g0168 a0001c0002t0003g0197 a0001c0002t0003g0252 a0001c0002t0003g0264 a0001c0002t0009g0141 a0001c0002t0009g0150 a0001c0002t0010g0176 a0001c0002t0012g0202 a0001c0003t0004g0162 a0001c0003t0004g0183 a0001c0003t0004g0208 a0001c0003t0008g0003 a0001c0003t0008g0119 a0001c0003t0014g0265 a0001c0004t0004g0120 a0001c0004t0004g0121 a0001c0009t0001g0182 a0001c0010t0009g0145 a0001c0011t0001g0209 a0003c0008t0003g0143	96	270	0.3556	-297	c.64+ others(15): Show c.64+8509_64+8805del	IL1RAP	ENSG00000196083.11	transcript	ENST00000447382.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
ITIH5_chr10_7554270_7671966	7593400	CCCCTGCA others(290): Show CCCCTGCAGCCTGCAGCCACCCAGCCCCACTCACCCCTGCAGACTGCAGC CACCCAGCCCCACTCACCCCTGCAGCCTGCAGCCACCCAGCCCCACTCAC CCCTGTAGACTGCAGCCACCCAGCCCCACTCACCCCTGCAGCCTGCAGCC ACCCAGCCCCACTCACCCCTGCAGCCTGCAGCCACCCAGCCCCACTCACC CCTGCAGCCTGCAGCCACCCAGCCCCACTCACCCCTGCAGCCTGCAGCCA CCCAGCCCCACTCACCCCTGCAGCCTGCAGCCACCCAGCCCCACTCAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02897.hp1 NA19240.hp1 HG02615.hp1 HG02897.hp1 NA19240.hp1	a0000 a0012 a0000 a0012	a0000c0063 a0012c0037 a0012c0077 a0000c0063 a0012c0037 a0012c0077	a0000c0063t0014 a0012c0037t0001 a0012c0077t0001 a0000c0063t0014 a0012c0037t0001 a0012c0077t0001	a0000c0063t0014g0263 a0012c0037t0001g0139 a0012c0077t0001g0290 a0000c0063t0014g0263 a0012c0037t0001g0139 a0012c0077t0001g0290	3	342	0.0088	-297	c.940 others(17): Show c.940-7628_940-7332del	ITIH5	ENSG00000123243.15	transcript	ENST00000397146.7	protein_coding	7/13			chr10	TogoVar
JUND_chr19_18274694_18286622	18284219	AAAAAAAA others(290): Show AAAAAAAAAAGAAGAAAAAAAAAATAGGCTGGGCGAGGTGGCTCACACCT GTAATAAGCACTTTGGGAGGCTGAGGCGGGCAAGTCATCTGAGGTCAGGA GTTCGAGACCAGCCTGGCCAATATGGCAAAACCCTGTCTCTACTAAAAAT ACAAAAATTAGCCAGGCATGGGGAGCGCACCGGTAATCCCAGCTGCTCTG GAGAAAGGAGAATCACTTGAACCCAGGAGATGGAGGTTGCAGTGAGCTGA AATCATGCCACTACACTCCAGCCTGGGCAACAGGGCAAGACTCCATCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	408	0.0025	-297	c.-30 others(11): Show c.-3032_-2736del	JUND	ENSG00000130522.6	transcript	ENST00000252818.5	protein_coding		2598		chr19	TogoVar
KBTBD11_chr8_1968677_2011936	1990741	GGGGCCTT others(290): Show GGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTG TCCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCG GGGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTGT CCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGATGCTGCGG GGCCTTGGCGCCCTGTCCGGGTAGGTGCTGCGGGGCCTTGGCGCCCTGTC CGGGTAGATGCTGCGGGGCCTTGGCGCCCTGTCCGGGTAGATGCTGCC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG02895.hp2 others(1): Show HG00140.hp1 HG00642.hp2 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0069 a0001c0001t0006 a0001c0001t0069	a0001c0001t0006g0023 a0001c0001t0006g0030 a0001c0001t0006g0045 others(1): Show a0001c0001t0006g0023 a0001c0001t0006g0030 a0001c0001t0006g0045 a0001c0001t0069g0336	4	389	0.0103	-297	c.-90 others(19): Show c.-908-9518_-908-9222del	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNIP4_chr4_20723606_21953772	20931872	GATAATAG others(290): Show GATAATAGTCTATAAGAGTCTAATATTGTAGACTATAATAGTCTATAACA GTCTAATATTGTAGACTATAATAGTCTATAACAGTCTAATATTGTAGACT ATAATAGTCTATAACAGTCTAATATTGTAGACTATAATAGTCTATAACAG TCTAATATTGTAGACAATAATAGTCTATAACAGTCTAATATTGTAGACTA TAATAGTCTATAACAGTCTAATATTGTAGACTATAATAGTCTATAACAGT CTAATATTGTAGACTATAATAGTCTATAACAGTCTAATATTGTAGACT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01123.hp2 HG01433.hp1 others(20): Show HG01106.hp1 HG01123.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG02056.hp2 HG02257.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp2 HG02896.hp1 HG02922.hp1 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03486.hp1 HG03654.hp2 NA18950.hp2 NA18971.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0006	a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0037 others(20): Show a0001c0001t0001g0012 a0001c0001t0001g0031 a0001c0001t0001g0037 a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0002g0021 a0001c0001t0002g0076 a0001c0001t0003g0079 a0001c0001t0004g0026 a0001c0001t0005g0034 a0001c0001t0007g0016 a0001c0001t0007g0046 a0001c0001t0010g0033 a0001c0001t0015g0023 a0001c0002t0001g0006 a0001c0002t0001g0040 a0001c0002t0001g0052 a0001c0002t0002g0011 a0001c0002t0003g0008 a0001c0002t0006g0050 a0001c0002t0006g0053	23	80	0.2875	-297	c.62- others(17): Show c.62-49460_62-49164del	KCNIP4	ENSG00000185774.17	transcript	ENST00000382152.7	protein_coding	1/8			chr4	TogoVar
KIAA1671_chr22_24947716_25202448	25000195	TTTTTTTT others(290): Show TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCAC GCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCGCGC CACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACC GTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTC GGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01256.hp1 HG03209.hp2 others(2): Show HG01168.hp1 HG01256.hp1 HG03209.hp2 HG03688.hp2 NA18969.hp2	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0007	a0001c0067 a0003c0003 a0004c0054 others(2): Show a0001c0067 a0003c0003 a0004c0054 a0006c0021 a0007c0097	a0001c0067t0008 a0003c0003t0006 a0004c0054t0002 others(2): Show a0001c0067t0008 a0003c0003t0006 a0004c0054t0002 a0006c0021t0024 a0007c0097t0002	a0001c0067t0008g0252 a0003c0003t0006g0004 a0004c0054t0002g0216 others(2): Show a0001c0067t0008g0252 a0003c0003t0006g0004 a0004c0054t0002g0216 a0006c0021t0024g0015 a0007c0097t0002g0146	5	254	0.0197	-297	c.-20 others(21): Show c.-207-25421_-207-25125del	KIAA1671	ENSG00000197077.14	transcript	ENST00000358431.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
LHPP_chr10_124456823_124619141	124507405	GAGGGTAG others(290): Show GAGGGTAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGG GGGATAGGGAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGG GGATAGGGAGTATTTCAGGTGGGGAGGGTAGGGAGGATTTCAGGTGTGGA GGGTAGACAGGATTTCAGGTGGGGGGATAGGGAGTATTTCAGGTGTGGAG GGTAGACAGGATTTCAGGTGTGGAGGGTAGACAGGATTTCAGGTGGGGGG ATAGGGAGTATTTCAGGTGGGGAGGGTAGACAGGATTTCAGGTGTGGA	G G	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0194	1	260	0.0039	-297	c.624 others(17): Show c.624+9278_625-9478del	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6			chr10	TogoVar
MRPS26_chr20_3041052_3053250	3041109	ACAGTGAG others(290): Show ACAGTGAGCTGTGATCATGCCACTGCACTCCAGCCTGGGTCAAAGAGTGA GACCCTGTCTCAAAAAAAAAAAAAAATAGGCCGGGCACAGTGGCTAATGC CTATAATCCCAGCACTTTGGGAGGCCAAGGCGGACGGATCACCTGAGGTC AGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCATCTCTACTAAAA ATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAATCCCAGCTACC GGGGAGGCTGAGGCAAGAGAATTGCTGGAACCTGGGAGGCAGAAACTG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(103): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00609.hp2 HG00735.hp2 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01109.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01496.hp1 HG01928.hp1 HG01943.hp2 HG02004.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp2 HG02738.hp2 HG02818.hp1 HG02896.hp1 HG03139.hp1 HG03209.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18939.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18955.hp2 NA18957.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18966.hp2 NA18974.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18994.hp1 NA18998.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp2 NA19054.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19070.hp1 NA19074.hp2 NA19079.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19086.hp1 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(8): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0004g0003	106	438	0.2420	-297	c.-49 others(11): Show c.-4959_-4663del	MRPS26	ENSG00000125901.6	transcript	ENST00000380325.4	protein_coding		4942		chr20	TogoVar
MTBP_chr8_120440419_120528636	120521863	CGGTGGAG others(290): Show CGGTGGAGGATGGGAGAGTAATGCAGCATTAGTGGATGCTCACGGTGGAG GGTGGGAGAGTAATGCAGCATTAGTGGATGCTCACGGTGGAGGGTGGGAG AGTAATGCAGCATTAGTGGATGCTCACGGTGGAGGGTGGGAGAGTAATGC AGCATTAGTGGATGCTCACGGTGGAGGATGGGAGAGTAATGCAGCATTAG TGGATGCTCACGGTGGAGGGTGGGAGAGTAATGCAGCATTAGTGGATGCT CACGGTGGAGGGTGGGAGAGTAATGCAGCATTAGTGGATGCTCACGGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(123): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01256.hp1 HG01257.hp1 HG01257.hp2 HG01261.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp2 HG02004.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp2 HG02135.hp2 HG02293.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp2 HG03017.hp2 HG03239.hp2 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp2 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18945.hp2 NA18948.hp2 NA18950.hp2 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp2 NA18967.hp2 NA18968.hp2 NA18974.hp1 NA18977.hp2 NA18978.hp2 NA18980.hp1 NA18981.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp1 NA19009.hp1 NA19030.hp1 NA19056.hp1 NA19057.hp2 NA19059.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp2 NA19078.hp1 NA19082.hp2 NA19084.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0008 a0011 others(1): Show a0001 a0008 a0011 a0013	a0001c0002 a0001c0011 a0001c0014 others(3): Show a0001c0002 a0001c0011 a0001c0014 a0008c0022 a0011c0019 a0013c0016	a0001c0002t0001 a0001c0011t0001 a0001c0014t0001 others(3): Show a0001c0002t0001 a0001c0011t0001 a0001c0014t0001 a0008c0022t0001 a0011c0019t0001 a0013c0016t0001	a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0011 others(107): Show a0001c0002t0001g0003 a0001c0002t0001g0006 a0001c0002t0001g0011 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0148 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0158 a0001c0002t0001g0159 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0166 a0001c0002t0001g0167 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0189 a0001c0002t0001g0190 a0001c0002t0001g0191 a0001c0002t0001g0192 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0217 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0011t0001g0023 a0001c0014t0001g0022 a0008c0022t0001g0188 a0011c0019t0001g0134 a0013c0016t0001g0147	126	352	0.3580	-297	c.261 others(17): Show c.2611-788_2611-492del	MTBP	ENSG00000172167.8	transcript	ENST00000305949.6	protein_coding	20/21		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYH14_chr19_50198622_50315540	50226126	ACCTGGAC others(290): Show ACCTGGACCCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTTTTG AGTCTGAGGGAGGAGGGGCTGGGGGCCTGAACCTCTGGGTCTGAGGGAGG AGGGGCTGGGGCCCTGGATTCTTGAGTCTGAGGGAGGAGGGGCTGGGGAC CTGGACTCTTGAGTCTGGGGGAGGAGGGGCTGGGGGCCTGGACCCCTGGG TCTGAGGGAGGAGGGGCTGGGAGCCCCAGACCCCTGGGTCTGAGGGAGGA GGGGCTGGGGGCCTGGACTTTTGAGTCTGAGGGAGGAGGGGCTGGGGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(151): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01516.hp1 HG01884.hp2 HG01952.hp1 HG01978.hp1 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02683.hp2 HG02698.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03130.hp1 HG03209.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18955.hp1 NA18955.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp2 NA18994.hp2 NA18995.hp1 NA19003.hp1 NA19003.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp2 NA19055.hp1 NA19058.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp1 NA19070.hp2 NA19085.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0007 a0009 a0010 a0011 a0014 a0019 a0027 a0030	a0001c0001 a0001c0002 a0001c0003 others(50): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0011 a0001c0013 a0001c0014 a0001c0018 a0001c0020 a0001c0021 a0001c0025 a0001c0026 a0001c0029 a0001c0037 a0001c0038 a0001c0040 a0001c0041 a0001c0070 a0001c0071 a0001c0072 a0001c0079 a0001c0080 a0001c0081 a0001c0082 a0001c0084 a0001c0085 a0001c0086 a0001c0087 a0001c0098 a0001c0111 a0001c0116 a0002c0009 a0002c0016 a0002c0019 a0002c0022 a0002c0045 a0002c0046 a0002c0047 a0002c0048 a0002c0050 a0004c0075 a0004c0077 a0004c0078 a0007c0073 a0007c0074 a0009c0069 a0010c0035 a0011c0076 a0014c0083 a0019c0106 a0027c0049 a0030c0051	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(74): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0005 a0001c0003t0010 a0001c0003t0014 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0009 a0001c0011t0001 a0001c0013t0001 a0001c0013t0002 a0001c0013t0003 a0001c0014t0001 a0001c0014t0003 a0001c0014t0005 a0001c0018t0001 a0001c0020t0001 a0001c0020t0003 a0001c0021t0006 a0001c0025t0001 a0001c0026t0001 a0001c0026t0002 a0001c0029t0006 a0001c0037t0003 a0001c0038t0001 a0001c0040t0001 a0001c0041t0002 a0001c0070t0002 a0001c0071t0001 a0001c0072t0001 a0001c0079t0003 a0001c0080t0003 a0001c0081t0002 a0001c0082t0001 a0001c0084t0001 a0001c0085t0001 a0001c0086t0003 a0001c0087t0003 a0001c0098t0001 a0001c0111t0001 a0001c0116t0001 a0002c0009t0001 a0002c0009t0002 a0002c0009t0003 a0002c0016t0001 a0002c0016t0003 a0002c0019t0001 a0002c0019t0003 a0002c0022t0001 a0002c0022t0003 a0002c0045t0003 a0002c0046t0001 a0002c0047t0001 a0002c0048t0001 a0002c0050t0003 a0004c0075t0001 a0004c0077t0003 a0004c0078t0001 a0007c0073t0001 a0007c0074t0002 a0009c0069t0003 a0010c0035t0001 a0011c0076t0001 a0014c0083t0001 a0019c0106t0001 a0027c0049t0001 a0030c0051t0001	a0001c0001t0001g0062 a0001c0001t0001g0077 a0001c0001t0001g0087 others(151): Show a0001c0001t0001g0062 a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0118 a0001c0001t0001g0122 a0001c0001t0001g0151 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0161 a0001c0001t0001g0216 a0001c0001t0001g0240 a0001c0001t0001g0258 a0001c0001t0001g0265 a0001c0001t0002g0013 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0069 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0002g0089 a0001c0001t0002g0150 a0001c0001t0002g0209 a0001c0001t0003g0073 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0133 a0001c0001t0003g0149 a0001c0001t0003g0222 a0001c0001t0003g0227 a0001c0001t0003g0273 a0001c0001t0005g0057 a0001c0001t0005g0068 a0001c0002t0001g0009 a0001c0003t0001g0070 a0001c0003t0001g0141 a0001c0003t0001g0244 a0001c0003t0002g0037 a0001c0003t0002g0059 a0001c0003t0002g0134 a0001c0003t0002g0152 a0001c0003t0002g0197 a0001c0003t0002g0218 a0001c0003t0002g0232 a0001c0003t0002g0239 a0001c0003t0002g0250 a0001c0003t0002g0259 a0001c0003t0003g0027 a0001c0003t0003g0067 a0001c0003t0003g0207 a0001c0003t0005g0071 a0001c0003t0010g0129 a0001c0003t0014g0088 a0001c0004t0001g0123 a0001c0004t0001g0132 a0001c0004t0001g0225 a0001c0004t0001g0228 a0001c0004t0001g0270 a0001c0004t0002g0080 a0001c0004t0002g0085 a0001c0004t0002g0160 a0001c0004t0002g0249 a0001c0004t0003g0144 a0001c0004t0003g0246 a0001c0005t0001g0049 a0001c0005t0001g0113 a0001c0005t0001g0117 a0001c0005t0001g0145 a0001c0005t0001g0159 a0001c0005t0001g0175 a0001c0005t0001g0193 a0001c0005t0002g0196 a0001c0005t0002g0210 a0001c0005t0002g0255 a0001c0005t0003g0206 a0001c0005t0009g0165 a0001c0011t0001g0010 a0001c0013t0001g0086 a0001c0013t0001g0156 a0001c0013t0001g0158 a0001c0013t0002g0253 a0001c0013t0003g0076 a0001c0014t0001g0153 a0001c0014t0003g0128 a0001c0014t0003g0274 a0001c0014t0003g0275 a0001c0014t0005g0064 a0001c0018t0001g0065 a0001c0018t0001g0217 a0001c0018t0001g0238 a0001c0018t0001g0263 a0001c0020t0001g0142 a0001c0020t0003g0168 a0001c0020t0003g0171 a0001c0021t0006g0050 a0001c0021t0006g0053 a0001c0025t0001g0074 a0001c0025t0001g0241 a0001c0026t0001g0127 a0001c0026t0002g0215 a0001c0029t0006g0205 a0001c0037t0003g0235 a0001c0038t0001g0051 a0001c0040t0001g0052 a0001c0041t0002g0136 a0001c0070t0002g0236 a0001c0071t0001g0148 a0001c0072t0001g0090 a0001c0079t0003g0170 a0001c0080t0003g0251 a0001c0081t0002g0279 a0001c0082t0001g0214 a0001c0084t0001g0125 a0001c0085t0001g0177 a0001c0086t0003g0169 a0001c0087t0003g0245 a0001c0098t0001g0015 a0001c0111t0001g0194 a0001c0116t0001g0297 a0002c0009t0001g0084 a0002c0009t0001g0119 a0002c0009t0001g0120 a0002c0009t0001g0121 a0002c0009t0001g0124 a0002c0009t0002g0181 a0002c0009t0003g0192 a0002c0016t0001g0031 a0002c0016t0001g0180 a0002c0016t0001g0233 a0002c0016t0003g0115 a0002c0019t0001g0036 a0002c0019t0001g0162 a0002c0019t0003g0189 a0002c0022t0001g0063 a0002c0022t0003g0163 a0002c0045t0003g0004 a0002c0046t0001g0047 a0002c0047t0001g0106 a0002c0048t0001g0135 a0002c0050t0003g0296 a0004c0075t0001g0271 a0004c0077t0003g0276 a0004c0078t0001g0095 a0007c0073t0001g0198 a0007c0074t0002g0140 a0009c0069t0003g0166 a0010c0035t0001g0286 a0011c0076t0001g0272 a0014c0083t0001g0066 a0019c0106t0001g0267 a0027c0049t0001g0223 a0030c0051t0001g0001	154	298	0.5168	-297	c.810 others(15): Show c.810+521_811-409del	MYH14	ENSG00000105357.20	transcript	ENST00000642316.2	protein_coding	7/42		INFO_REALIGN_3_PRIME	chr19	TogoVar
MYOM2_chr8_2040046_2150456	2085610	CTGCGTGG others(290): Show CTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCACTGTCGTG ATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACTGTCG TGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACA GTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCC CACAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTTGTGGCCC CCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01516.hp1 NA18966.hp1 HG00741.hp2 HG01516.hp1 NA18966.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0025 a0001c0003 a0002c0025	a0001c0003t0001 a0002c0025t0001 a0001c0003t0001 a0002c0025t0001	a0001c0003t0001g0020 a0001c0003t0001g0213 a0002c0025t0001g0298 a0001c0003t0001g0020 a0001c0003t0001g0213 a0002c0025t0001g0298	3	403	0.0074	-297	c.164 others(17): Show c.1644+223_1644+519del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085955	CTTTGTGG others(290): Show CTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCGTG ATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCCCCCACAGT CGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGTGGCCCCCCA CTGTTGTGATCTCTTTGTGGCCCCCCACTGTCGTGATCTCTGCGTGGCCC CCCACTGTTGTGATCTCTGCGTGGCCCCACTGTCATGATCTCTGCGTGGC CCCACTGTCATGATCTCTTTGTGGCCCCCCACTGTTGTGATCTTTGCG	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02622.hp2 HG03225.hp1 others(3): Show HG02056.hp2 HG02622.hp2 HG03225.hp1 NA18964.hp2 NA18966.hp2 NA18994.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0029	a0001c0003 a0002c0025 a0007c0047 others(1): Show a0001c0003 a0002c0025 a0007c0047 a0029c0183	a0001c0003t0001 a0002c0025t0002 a0007c0047t0001 others(1): Show a0001c0003t0001 a0002c0025t0002 a0007c0047t0001 a0029c0183t0001	a0001c0003t0001g0046 a0001c0003t0001g0348 a0002c0025t0002g0310 others(3): Show a0001c0003t0001g0046 a0001c0003t0001g0348 a0002c0025t0002g0310 a0007c0047t0001g0183 a0007c0047t0001g0184 a0029c0183t0001g0119	6	403	0.0149	-297	c.164 others(17): Show c.1644+567_1644+863del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar

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