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
KCNMB2_chr3_178531436_178849429	178760158	ATATATAT others(85): Show ATATATATATATATATCCAAGAGGATATATCTATATATATATATATATCC AAGAGGATATATCTATATATAGATATATCCAAGAGGATATATC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00738.hp2 HG01109.hp1 others(11): Show HG00735.hp1 HG00738.hp2 HG01109.hp1 HG01109.hp2 HG01257.hp1 HG01891.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp2 HG02698.hp2 HG02896.hp1 HG02965.hp2 HG03225.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0105 a0001c0001t0002g0022 a0001c0001t0002g0065 others(11): Show a0001c0001t0001g0105 a0001c0001t0002g0022 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0077 a0001c0001t0002g0097 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0002g0229 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0115 a0001c0002t0001g0119	14	232	0.0603	-92	c.-67 others(111): Show c.-67-47176_-67-47085delTATATATCCAAGAGGATATATCTATA TATATATATATATCCAAGAGGATATATCTATATATAGATATATCCAAGAG GATATATCTATATATA	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNV2_chr9_2712510_2735037	2722432	TTTATAAA others(85): Show TTTATAAATAAGTTATTTATAAATAGAAGTTATTTATAAATAAGTTATTT ATAAATAGAAGTTATTTATAAATAAGTTATTTATAAATAAAAG	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02109.hp2 HG02280.hp1 others(3): Show HG00639.hp1 HG02109.hp2 HG02280.hp1 HG02559.hp2 HG02895.hp2 NA21309.hp2	a0002 a0009 a0002 a0009	a0002c0005 a0002c0006 a0009c0028 a0002c0005 a0002c0006 a0009c0028	a0002c0005t0006 a0002c0006t0001 a0009c0028t0004 a0002c0005t0006 a0002c0006t0001 a0009c0028t0004	a0002c0005t0006g0016 a0002c0006t0001g0061 a0009c0028t0004g0062 a0002c0005t0006g0016 a0002c0006t0001g0061 a0009c0028t0004g0062	6	442	0.0136	-92	c.135 others(111): Show c.1356+3342_1356+3433delAAATAAGTTATTTATAAATAGAAGTT ATTTATAAATAAGTTATTTATAAATAGAAGTTATTTATAAATAAGTTATT TATAAATAAAAGTTAT	KCNV2	ENSG00000168263.9	transcript	ENST00000382082.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIF25_chr6_167992671_168050091	167999984	CCCCACTC others(85): Show CCCCACTCCCATCCTGACCACACCTGACCCTCCCCACTTCCATCCTGTCT ACACCTGACCCTCCCCACTCCCATCCTGACCACACCTGACCCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0023 a0001c0010t0023	a0001c0010t0023g0329 a0001c0010t0023g0329	1	375	0.0027	-92	c.-37 others(109): Show c.-370+702_-370+793delTCCATCCTGTCTACACCTGACCCTCCCC ACTCCCATCCTGACCACACCTGACCCTCCCACTCCCATCCTGACCACACC TGACCCTCCCCACT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
KIF4A_chrX_70285104_70425886	70373553	TATACGTA others(85): Show TATACGTATATATATACATATATACGTGTATATATATACGTATATATATA CATATATACGTGTATATATATACGTATATATATACATATATAC	T T	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	259	0.0039	-92	c.167 others(109): Show c.1675-597_1675-506delATACGTATATATATACATATATACGTGT ATATATATACGTATATATATACATATATACGTGTATATATATACGTATAT ATATACATATATAC	KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	15/30			chrX	TogoVar
KIF4A_chrX_70285104_70425886	70373556	ACGTATAT others(85): Show ACGTATATATATACATATATACGTGTATATATATACGTATATATATACAT ATATACGTGTATATATATACGTATATATATACATATATACGTG	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG00438.hp2 others(38): Show HG00280.hp1 HG00323.hp2 HG00438.hp2 HG01069.hp1 HG01099.hp1 HG01346.hp1 HG01496.hp1 HG01517.hp2 HG01978.hp1 HG02056.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02523.hp2 HG02615.hp2 HG03490.hp1 HG03540.hp2 HG03688.hp1 HG03704.hp2 NA18955.hp1 NA18956.hp1 NA18977.hp1 NA18988.hp1 NA18994.hp1 NA19004.hp1 NA19030.hp1 NA19060.hp1 NA19066.hp1 NA19070.hp1 NA19075.hp1 NA19084.hp2 NA19088.hp1 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0009 a0001c0001 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0003t0001 a0001c0009t0001 a0001c0001t0001 a0001c0003t0001 a0001c0009t0001	a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0022 others(38): Show a0001c0001t0001g0002 a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0155 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0168 a0001c0001t0001g0171 a0001c0001t0001g0173 a0001c0001t0001g0217 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0232 a0001c0001t0001g0238 a0001c0001t0001g0244 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0003t0001g0039 a0001c0003t0001g0045 a0001c0003t0001g0164 a0001c0009t0001g0109	41	259	0.1583	-92	c.167 others(109): Show c.1675-594_1675-503delCGTATATATATACATATATACGTGTATA TATATACGTATATATATACATATATACGTGTATATATATACGTATATATA TACATATATACGTG	KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	15/30			chrX	TogoVar
KIF4A_chrX_70285104_70425886	70373674	ATATACGT others(85): Show ATATACGTGTATATATATACGTATATATATACACATATACGTGTATATAT ATACGTATATATATACATATATACGTGTATATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0240 a0001c0008t0001g0240	1	259	0.0039	-92	c.167 others(109): Show c.1675-472_1675-381delCGTGTATATATATACGTATATATATACA CATATACGTGTATATATATACGTATATATATACATATATACGTGTATATA TATATATACGTATA	KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	15/30		INFO_REALIGN_3_PRIME	chrX	TogoVar
KIF4A_chrX_70285104_70425886	70373685	TATATATA others(85): Show TATATATACGTATATATATACACATATACGTGTATATATATACGTATATA TATACATATATACGTGTATATATATATATACGTATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	259	0.0039	-92	c.167 others(109): Show c.1675-458_1675-367delCGTATATATATACACATATACGTGTATA TATATACGTATATATATACATATATACGTGTATATATATATATACGTATA TATACACATATATA	KIF4A	ENSG00000090889.12	transcript	ENST00000374403.4	protein_coding	15/30		INFO_REALIGN_3_PRIME	chrX	TogoVar
LAMB1_chr7_107918799_108008161	107976856	TCTCCTTC others(85): Show TCTCCTTCCTTCCTTCCTTTCCTCTTGCTCCTTCCTTCCTTTCCTCTTGC TCCTTCCTTCCTTTCCTCTCTCTCCTTCCTTCCTTTCCTCTCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00735.hp1 HG00735.hp2 others(27): Show HG00408.hp1 HG00735.hp1 HG00735.hp2 HG01168.hp1 HG01884.hp1 HG01975.hp1 HG01993.hp1 HG02015.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02572.hp2 HG02630.hp2 HG02698.hp1 HG02723.hp2 HG03041.hp2 HG03471.hp1 HG03654.hp2 HG03834.hp2 HG04115.hp1 HG04228.hp1 NA18906.hp1 NA18975.hp1 NA18977.hp2 NA19055.hp2 NA19065.hp2 NA19076.hp2 NA19090.hp2 NA20129.hp1 NA20752.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0005 a0007 a0008 a0010 a0017	a0001c0009 a0001c0018 a0001c0032 others(10): Show a0001c0009 a0001c0018 a0001c0032 a0001c0077 a0001c0078 a0002c0008 a0002c0081 a0003c0079 a0005c0012 a0007c0031 a0008c0080 a0010c0082 a0017c0076	a0001c0009t0001 a0001c0018t0001 a0001c0018t0002 others(11): Show a0001c0009t0001 a0001c0018t0001 a0001c0018t0002 a0001c0032t0001 a0001c0077t0001 a0001c0078t0001 a0002c0008t0002 a0002c0081t0001 a0003c0079t0001 a0005c0012t0002 a0007c0031t0001 a0008c0080t0001 a0010c0082t0002 a0017c0076t0001	a0001c0009t0001g0018 a0001c0009t0001g0194 a0001c0009t0001g0270 others(27): Show a0001c0009t0001g0018 a0001c0009t0001g0194 a0001c0009t0001g0270 a0001c0009t0001g0271 a0001c0009t0001g0280 a0001c0009t0001g0281 a0001c0009t0001g0282 a0001c0009t0001g0283 a0001c0018t0001g0178 a0001c0018t0001g0277 a0001c0018t0002g0269 a0001c0032t0001g0028 a0001c0077t0001g0275 a0001c0078t0001g0024 a0002c0008t0002g0006 a0002c0008t0002g0098 a0002c0008t0002g0156 a0002c0008t0002g0268 a0002c0008t0002g0272 a0002c0008t0002g0273 a0002c0008t0002g0274 a0002c0008t0002g0278 a0002c0008t0002g0279 a0002c0081t0001g0020 a0003c0079t0001g0179 a0005c0012t0002g0136 a0007c0031t0001g0072 a0008c0080t0001g0276 a0010c0082t0002g0204 a0017c0076t0001g0005	30	364	0.0824	-92	c.100 others(110): Show c.1001-1071_1001-980delGGAGAGGAAAGGAAGGAAGGAGAGAGA GGAAAGGAAGGAAGGAGCAAGAGGAAAGGAAGGAAGGAGCAAGAGGAAAG GAAGGAAGGAAGGAG	LAMB1	ENSG00000091136.15	transcript	ENST00000222399.11	protein_coding	9/33			chr7	TogoVar
LATS2_chr13_20968036_21066586	21007579	ATATATAT others(85): Show ATATATATAGTATATATATATATAGTGTGTATATATATATATAGTGTATA TATATATATATATATAGTGTGTGTATATATATATAGTGTGTAT	A A	intron_variant intron_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0015 a0001c0010t0015	a0001c0010t0015g0003 a0001c0010t0015g0003	1	316	0.0032	-92	c.343 others(111): Show c.343-16267_343-16176delATACACACTATATATATATACACACA CTATATATATATATATATATACACTATATATATATATACACACTATATAT ATATATACTATATATA	LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7			chr13	TogoVar
LEKR1_chr3_156821353_157051129	156899467	TGTATATA others(85): Show TGTATATATACATACATACATATATACACATATATACATGTATATATACA TACATACATATATACACATATATACATATATACACATATATAC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	244	0.0041	-92	c.264 others(111): Show c.264-21107_264-21016delGTATATATACATACATACATATATAC ACATATATACATGTATATATACATACATACATATATACACATATATACAT ATATACACATATATAC	LEKR1	ENSG00000197980.14	transcript	ENST00000356539.9	protein_coding	3/12			chr3	TogoVar
LINGO2_chr9_27932617_29218601	28584921	TGACTGCA others(85): Show TGACTGCAAGAGATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCAC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(58): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01261.hp1 HG01261.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02451.hp1 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp1 HG03486.hp2 HG06807.hp1 HG06807.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19074.hp1 NA19074.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(35): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0003t0009 a0001c0004t0005 a0002c0002t0001	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(58): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0002g0014 a0001c0001t0002g0028 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0052 a0001c0001t0003g0025 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0049 a0001c0001t0004g0022 a0001c0001t0004g0033 a0001c0001t0004g0039 a0001c0001t0005g0057 a0001c0001t0005g0059 a0001c0001t0006g0003 a0001c0001t0006g0004 a0001c0001t0007g0006 a0001c0001t0007g0009 a0001c0001t0008g0020 a0001c0001t0008g0040 a0001c0001t0009g0056 a0001c0001t0010g0001 a0001c0001t0011g0002 a0001c0001t0013g0010 a0001c0001t0014g0008 a0001c0001t0015g0012 a0001c0001t0016g0011 a0001c0001t0017g0007 a0001c0001t0018g0015 a0001c0001t0019g0053 a0001c0001t0020g0042 a0001c0001t0021g0051 a0001c0001t0022g0031 a0001c0001t0023g0037 a0001c0001t0024g0027 a0001c0001t0025g0055 a0001c0001t0026g0013 a0001c0001t0027g0030 a0001c0001t0028g0038 a0001c0001t0029g0024 a0001c0001t0030g0026 a0001c0001t0031g0021 a0001c0001t0032g0023 a0001c0001t0033g0058 a0001c0001t0034g0061 a0001c0001t0035g0060 a0001c0001t0036g0062 a0001c0003t0009g0036 a0001c0004t0005g0054 a0002c0002t0001g0050	61	62	0.9839	-92	c.-31 others(113): Show c.-314+85187_-314+85278delGTGAGCCGAGATCGCGCCACTGCA CTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAA AAAAAATCTCTTGCAGTC	LINGO2	ENSG00000174482.11	transcript	ENST00000698399.1	protein_coding	3/6			chr9	TogoVar
LMF1_chr16_848634_975984	902572	TGGTGACC others(85): Show TGGTGACCTCTGCACTGCCTGTGGGGACGCCCGTCTCTGCTGCGTGGTGG TGACCTCTGCATCGCCCACAGGACGCCTGTCTCTGCTGTGTGG	T T	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0060 a0001c0060	a0001c0060t0002 a0001c0060t0002	a0001c0060t0002g0128 a0001c0060t0002g0128	1	294	0.0034	-92	c.663 others(109): Show c.663+8267_663+8358delCCACACAGCAGAGACAGGCGTCCTGTGG GCGATGCAGAGGTCACCACCACGCAGCAGAGACGGGCGTCCCCACAGGCA GTGCAGAGGTCACC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10			chr16	TogoVar
LMF1_chr16_848634_975984	917292	ACTGCGGG others(85): Show ACTGCGGGCGGGCACAGGCCCACGTGAAGAAATGCCACATGTGTGCACTG CGGGTGGGCGCAGGCCCACGTGAAGAAATGCCACACGTGTGCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00423.hp2 others(108): Show HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG01069.hp1 HG01071.hp2 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp1 HG01192.hp2 HG01243.hp1 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01993.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03486.hp1 HG03490.hp2 HG03492.hp2 HG03516.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04199.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18943.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18966.hp2 NA18967.hp1 NA18973.hp1 NA18975.hp1 NA18982.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp2 NA19002.hp2 NA19004.hp1 NA19010.hp2 NA19011.hp1 NA19064.hp2 NA19068.hp1 NA19077.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0014 a0017 a0022	a0001c0001 a0001c0002 a0001c0003 others(30): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0013 a0001c0022 a0001c0023 a0001c0041 a0001c0044 a0001c0053 a0001c0067 a0002c0016 a0002c0017 a0002c0051 a0002c0052 a0002c0054 a0003c0030 a0004c0025 a0004c0043 a0005c0019 a0006c0021 a0006c0048 a0007c0028 a0008c0045 a0009c0024 a0011c0038 a0011c0039 a0014c0040 a0017c0050 a0022c0042	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(41): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0006 a0001c0002t0011 a0001c0003t0001 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0004t0016 a0001c0005t0001 a0001c0005t0012 a0001c0006t0001 a0001c0006t0002 a0001c0008t0001 a0001c0008t0002 a0001c0013t0001 a0001c0013t0014 a0001c0022t0001 a0001c0023t0001 a0001c0041t0001 a0001c0044t0001 a0001c0053t0002 a0001c0067t0001 a0002c0016t0001 a0002c0017t0001 a0002c0051t0001 a0002c0052t0001 a0002c0054t0001 a0003c0030t0002 a0004c0025t0007 a0004c0043t0003 a0005c0019t0001 a0006c0021t0001 a0006c0021t0006 a0006c0048t0006 a0007c0028t0004 a0008c0045t0003 a0009c0024t0001 a0011c0038t0001 a0011c0039t0002 a0014c0040t0004 a0017c0050t0001 a0022c0042t0001	a0001c0001t0001g0024 a0001c0001t0001g0181 a0001c0002t0001g0021 others(108): Show a0001c0001t0001g0024 a0001c0001t0001g0181 a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0033 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0066 a0001c0002t0001g0073 a0001c0002t0001g0086 a0001c0002t0001g0093 a0001c0002t0001g0095 a0001c0002t0001g0288 a0001c0002t0002g0289 a0001c0002t0002g0291 a0001c0002t0006g0050 a0001c0002t0011g0292 a0001c0003t0001g0183 a0001c0004t0001g0053 a0001c0004t0001g0054 a0001c0004t0001g0061 a0001c0004t0001g0065 a0001c0004t0001g0067 a0001c0004t0001g0075 a0001c0004t0001g0077 a0001c0004t0001g0087 a0001c0004t0001g0089 a0001c0004t0001g0091 a0001c0004t0004g0030 a0001c0004t0005g0078 a0001c0004t0016g0025 a0001c0005t0001g0037 a0001c0005t0001g0047 a0001c0005t0001g0080 a0001c0005t0001g0109 a0001c0005t0001g0111 a0001c0005t0001g0112 a0001c0005t0001g0113 a0001c0005t0001g0116 a0001c0005t0001g0248 a0001c0005t0012g0110 a0001c0006t0001g0055 a0001c0006t0001g0082 a0001c0006t0001g0092 a0001c0006t0001g0284 a0001c0006t0001g0285 a0001c0006t0001g0286 a0001c0006t0001g0287 a0001c0006t0001g0290 a0001c0006t0002g0282 a0001c0006t0002g0283 a0001c0008t0001g0023 a0001c0008t0001g0052 a0001c0008t0001g0069 a0001c0008t0001g0074 a0001c0008t0001g0079 a0001c0008t0001g0090 a0001c0008t0002g0071 a0001c0013t0001g0043 a0001c0013t0001g0045 a0001c0013t0001g0046 a0001c0013t0001g0220 a0001c0013t0014g0022 a0001c0022t0001g0241 a0001c0023t0001g0244 a0001c0023t0001g0246 a0001c0041t0001g0088 a0001c0044t0001g0034 a0001c0053t0002g0031 a0001c0067t0001g0056 a0002c0016t0001g0068 a0002c0016t0001g0070 a0002c0016t0001g0076 a0002c0017t0001g0038 a0002c0017t0001g0081 a0002c0017t0001g0096 a0002c0051t0001g0206 a0002c0052t0001g0018 a0002c0054t0001g0114 a0003c0030t0002g0008 a0004c0025t0007g0259 a0004c0025t0007g0294 a0004c0043t0003g0119 a0005c0019t0001g0060 a0005c0019t0001g0083 a0006c0021t0001g0020 a0006c0021t0006g0019 a0006c0048t0006g0108 a0007c0028t0004g0017 a0008c0045t0003g0072 a0009c0024t0001g0117 a0009c0024t0001g0118 a0011c0038t0001g0245 a0011c0039t0002g0264 a0014c0040t0004g0270 a0017c0050t0001g0051 a0022c0042t0001g0084	111	294	0.3776	-92	c.515 others(109): Show c.515-6305_515-6214delCGCACACGTGTGGCATTTCTTCACGTGG GCCTGCGCCCACCCGCAGTGCACACATGTGGCATTTCTTCACGTGGGCCT GTGCCCGCCCGCAG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	3/10			chr16	TogoVar
LMLN_chr3_197955217_198048720	198040495	TATGGCAT others(85): Show TATGGCATTCTAACCACAACCCTCGGACAGACTCCTCCTATTCCTCCATG GCATTGTAACCACAACCCTCGGACAGACTCCTCCTATTCCTCC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp1 HG02647.hp2 HG03225.hp2 HG00733.hp1 HG02647.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0024 a0002c0002t0055 a0002c0002t0024 a0002c0002t0055	a0002c0002t0024g0017 a0002c0002t0024g0018 a0002c0002t0055g0016 a0002c0002t0024g0017 a0002c0002t0024g0018 a0002c0002t0055g0016	3	258	0.0116	-92	c.18 others(103): Show c.1837_*1928delCTAACCACAACCCTCGGACAGACTCCTCCTATTC CTCCATGGCATTGTAACCACAACCCTCGGACAGACTCCTCCTATTCCTCC ATGGCATT	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	17/17	1837	INFO_REALIGN_3_PRIME	chr3	TogoVar
LUZP2_chr11_24492053_25087638	25030903	ATAATATA others(85): Show ATAATATATATTGTATTATATATATATAATATATATTATATATATTATAT ATATAATACAATATATATTATATATATATAATACAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01884.hp2 HG01891.hp2 others(19): Show HG01106.hp2 HG01884.hp2 HG01891.hp2 HG01975.hp1 HG02129.hp1 HG02145.hp1 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02683.hp1 HG02896.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp1 HG03130.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp2 HG04204.hp1 HG04228.hp1 NA18522.hp1 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(10): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0014 a0001c0001t0017 a0001c0001t0021 a0001c0001t0033 a0001c0001t0037 a0002c0002t0009 a0002c0002t0022 a0003c0004t0018	a0001c0001t0002g0025 a0001c0001t0002g0040 a0001c0001t0003g0081 others(19): Show a0001c0001t0002g0025 a0001c0001t0002g0040 a0001c0001t0003g0081 a0001c0001t0003g0084 a0001c0001t0004g0062 a0001c0001t0004g0075 a0001c0001t0004g0085 a0001c0001t0010g0037 a0001c0001t0010g0038 a0001c0001t0010g0080 a0001c0001t0011g0054 a0001c0001t0014g0002 a0001c0001t0014g0044 a0001c0001t0017g0018 a0001c0001t0017g0071 a0001c0001t0021g0093 a0001c0001t0033g0112 a0001c0001t0037g0110 a0002c0002t0009g0005 a0002c0002t0009g0043 a0002c0002t0022g0017 a0003c0004t0018g0098	22	116	0.1897	-92	c.766 others(111): Show c.766-19132_766-19041delATATATATTGTATTATATATATATAA TATATATTATATATATTATATATATAATACAATATATATTATATATATAT AATACAATATATATTA	LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
MAD1L1_chr7_1810795_2237945	2210405	TTCTAGGA others(85): Show TTCTAGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTCTCT AGGAGCCGTATTCGGGACCGCCAGCCCGCATTCCCGTGGACTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(64): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00408.hp1 HG00544.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01361.hp1 HG01433.hp2 HG01515.hp2 HG01978.hp1 HG01981.hp1 HG02040.hp2 HG02056.hp1 HG02132.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp2 HG02615.hp1 HG02735.hp1 HG02970.hp2 HG03017.hp2 HG03471.hp1 HG03834.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18940.hp1 NA18944.hp2 NA18952.hp1 NA18954.hp2 NA18963.hp1 NA18967.hp1 NA18969.hp2 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18990.hp2 NA18995.hp1 NA19012.hp2 NA19030.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19088.hp1 NA19088.hp2 NA20300.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0013 a0002c0002 a0002c0005 a0002c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0003t0001 a0001c0004t0001 a0001c0013t0001 a0002c0002t0001 a0002c0002t0010 a0002c0005t0001 a0002c0012t0001	a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 others(64): Show a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0226 a0001c0001t0002g0201 a0001c0001t0002g0225 a0001c0001t0007g0144 a0001c0003t0001g0005 a0001c0003t0001g0015 a0001c0003t0001g0029 a0001c0003t0001g0059 a0001c0003t0001g0072 a0001c0003t0001g0088 a0001c0003t0001g0095 a0001c0004t0001g0093 a0001c0004t0001g0094 a0001c0004t0001g0097 a0001c0004t0001g0099 a0001c0013t0001g0076 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0040 a0002c0002t0001g0045 a0002c0002t0001g0049 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0060 a0002c0002t0010g0264 a0002c0005t0001g0104 a0002c0005t0001g0120 a0002c0005t0001g0192 a0002c0005t0001g0203 a0002c0005t0001g0240 a0002c0012t0001g0044	67	264	0.2538	-92	c.986 others(109): Show c.986+2715_986+2806delGAGTCCACGGGAATGCGGGCTGGCGGTC CCGAATACGGCTCCTAGAGAGTCCACGGGAATGCGGGCTGGCGGTCCCGA ATACGGCTCCTAGA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	10/18			chr7	TogoVar
MALRD1_chr10_19043801_19739478	19171983	TATAATAT others(85): Show TATAATATATGTATATATCACATATATGTGATATATATCATATATCACAT ATATGTGATATATATCATATATCACATATATGTGATATATATC	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01070.hp1 HG01071.hp1 others(22): Show HG00544.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01168.hp1 HG02071.hp1 HG02109.hp1 HG02280.hp1 HG02896.hp1 HG03209.hp2 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03669.hp1 HG03710.hp1 NA18947.hp1 NA18965.hp1 NA18965.hp2 NA18971.hp2 NA18981.hp2 NA18988.hp1 NA19088.hp1	a0001 a0002 a0004 others(16): Show a0001 a0002 a0004 a0006 a0008 a0009 a0010 a0012 a0019 a0021 a0025 a0026 a0027 a0037 a0038 a0042 a0043 a0058 a0071	a0001c0003 a0002c0028 a0004c0118 others(17): Show a0001c0003 a0002c0028 a0004c0118 a0006c0004 a0006c0024 a0008c0006 a0009c0040 a0010c0014 a0012c0041 a0019c0009 a0021c0011 a0025c0013 a0026c0062 a0027c0019 a0037c0043 a0038c0042 a0042c0090 a0043c0091 a0058c0119 a0071c0121	a0001c0003t0001 a0002c0028t0001 a0004c0118t0001 others(17): Show a0001c0003t0001 a0002c0028t0001 a0004c0118t0001 a0006c0004t0001 a0006c0024t0001 a0008c0006t0001 a0009c0040t0002 a0010c0014t0001 a0012c0041t0004 a0019c0009t0002 a0021c0011t0002 a0025c0013t0001 a0026c0062t0001 a0027c0019t0002 a0037c0043t0002 a0038c0042t0001 a0042c0090t0001 a0043c0091t0002 a0058c0119t0001 a0071c0121t0002	a0001c0003t0001g0114 a0001c0003t0001g0115 a0002c0028t0001g0101 others(22): Show a0001c0003t0001g0114 a0001c0003t0001g0115 a0002c0028t0001g0101 a0004c0118t0001g0100 a0006c0004t0001g0026 a0006c0004t0001g0035 a0006c0024t0001g0127 a0008c0006t0001g0050 a0008c0006t0001g0051 a0008c0006t0001g0059 a0009c0040t0002g0067 a0010c0014t0001g0008 a0012c0041t0004g0063 a0019c0009t0002g0070 a0021c0011t0002g0018 a0025c0013t0001g0118 a0026c0062t0001g0111 a0027c0019t0002g0071 a0027c0019t0002g0072 a0037c0043t0002g0148 a0038c0042t0001g0023 a0042c0090t0001g0128 a0043c0091t0002g0064 a0058c0119t0001g0010 a0071c0121t0002g0078	25	152	0.1645	-92	c.183 others(111): Show c.1831-3221_1831-3130delATATATGTATATATCACATATATGTG ATATATATCATATATCACATATATGTGATATATATCATATATCACATATA TGTGATATATATCATA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	13/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAPK11_chr22_50258713_50275380	50265879	ACCCAGCC others(85): Show ACCCAGCCCACCCCCACTGCCCTGGCCAGGCACTGCTTGCTGGGGTCCCC CAGCCCACCCCCACTGCCCTGGCCAGGCACTGCTTGCTGGGCC	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	428	0.0023	-92	c.762 others(107): Show c.762+255_763-220delGGCCCAGCAAGCAGTGCCTGGCCAGGGCAG TGGGGGTGGGCTGGGGGACCCCAGCAAGCAGTGCCTGGCCAGGGCAGTGG GGGTGGGCTGGG	MAPK11	ENSG00000185386.15	transcript	ENST00000330651.11	protein_coding	9/11			chr22	TogoVar
MAPK12_chr22_50247901_50266683	50265879	ACCCAGCC others(85): Show ACCCAGCCCACCCCCACTGCCCTGGCCAGGCACTGCTTGCTGGGGTCCCC CAGCCCACCCCCACTGCCCTGGCCAGGCACTGCTTGCTGGGCC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	444	0.0023	-92	c.-44 others(103): Show c.-4462_-4371delGGCCCAGCAAGCAGTGCCTGGCCAGGGCAGTGGG GGTGGGCTGGGGGACCCCAGCAAGCAGTGCCTGGCCAGGGCAGTGGGGGT GGGCTGGG	MAPK12	ENSG00000188130.14	transcript	ENST00000215659.13	protein_coding		4197		chr22	TogoVar
MAPK9_chr5_180228143_180297083	180296763	ACACACAC others(85): Show ACACACACACACAAGGAAGTACAACACACACGTAAGAAAGTACACACACG GAAGTACTTACCCCCCCCCCCACACACACACGGAAGTACTTAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	372	0.0027	-92	c.-50 others(103): Show c.-5055_-4964delGTAAGTACTTCCGTGTGTGTGTGGGGGGGGGGGT AAGTACTTCCGTGTGTGTACTTTCTTACGTGTGTGTTGTACTTCCTTGTG TGTGTGTG	MAPK9	ENSG00000050748.18	transcript	ENST00000452135.7	protein_coding		4681		chr5	TogoVar
MAPK9_chr5_180228143_180297083	180296863	ACACACAC others(85): Show ACACACACACACACACACAAGGAAGTACAACACACACGTAAGGAAGTACA CACACGGAAGTACCCCCCCACACACACACACGGAAGTACTTAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG01255.hp1 others(34): Show HG00280.hp2 HG00438.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01952.hp1 HG01975.hp1 HG02055.hp1 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02683.hp1 HG02698.hp1 HG02965.hp1 HG03139.hp2 HG03225.hp2 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03579.hp1 HG03669.hp2 HG03942.hp2 HG04115.hp1 NA18951.hp1 NA19066.hp1 NA19240.hp2 NA20752.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0023 a0001c0001t0027 a0001c0002t0012 a0002c0003t0003	a0001c0001t0001g0256 a0001c0001t0002g0089 a0001c0001t0002g0102 others(30): Show a0001c0001t0001g0256 a0001c0001t0002g0089 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0003g0002 a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0006g0030 a0001c0001t0010g0010 a0001c0001t0010g0100 a0001c0001t0010g0101 a0001c0001t0010g0104 a0001c0001t0015g0019 a0001c0001t0015g0020 a0001c0001t0015g0022 a0001c0001t0017g0012 a0001c0001t0021g0258 a0001c0001t0023g0123 a0001c0001t0023g0124 a0001c0001t0027g0339 a0001c0001t0027g0340 a0001c0002t0012g0251 a0002c0003t0003g0109	37	372	0.0995	-92	c.-51 others(103): Show c.-5155_-5064delGTAAGTACTTCCGTGTGTGTGTGTGGGGGGGTAC TTCCGTGTGTGTACTTCCTTACGTGTGTGTTGTACTTCCTTGTGTGTGTG TGTGTGTG	MAPK9	ENSG00000050748.18	transcript	ENST00000452135.7	protein_coding		4781		chr5	TogoVar
MBD5_chr2_148016091_148521971	148345430	TATACATA others(85): Show TATACATATGTATATACACATACACATATACATATGTATATACACATACA TATACATATGTATATACACATACATATACATATGTATATACAC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02965.hp2 NA19240.hp1 HG02622.hp2 HG02965.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0006g0013 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0006g0013	3	188	0.0160	-92	c.-55 others(111): Show c.-557+3116_-557+3207delCACATATACATATGTATATACACATA CATATACATATGTATATACACATACATATACATATGTATATACACATACA TATGTATATACACATA	MBD5	ENSG00000204406.14	transcript	ENST00000642680.2	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr2	TogoVar
MBP_chr18_76973833_77137783	77018872	CCATCCAT others(85): Show CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTCATGT ATTCATCCATTTACCTACCTGTTCATCCATCCATCTATCCATT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0304 a0001c0001t0045g0304	1	396	0.0025	-92	c.140 others(109): Show c.140-1696_140-1605delAATGGATAGATGGATGGATGAACAGGTA GGTAAATGGATGAATACATGAGTGGATGGATGGATGGATGGATGGATGGA TGGATGGATGGATG	MBP	ENSG00000197971.16	transcript	ENST00000355994.7	protein_coding	3/8			chr18	TogoVar
MCPH1_chr8_6401627_6653508	6567115	CGGTGCGG others(85): Show CGGTGCGGTGACCGTGTGTGATCGGCAAGGCCATGGATAGTGCCCGTGGC GTGGTGTCCATGTATGATCAGCAAGGCCATGGATAGTGCACGT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00609.hp2 others(29): Show HG00544.hp1 HG00544.hp2 HG00609.hp2 HG00735.hp1 HG01070.hp2 HG01167.hp1 HG01169.hp2 HG01433.hp1 HG01891.hp2 HG02004.hp1 HG02040.hp1 HG02280.hp1 HG02523.hp2 HG02630.hp2 HG02738.hp1 HG02886.hp1 HG02896.hp2 HG03041.hp1 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03688.hp1 HG03927.hp2 HG04204.hp2 NA18951.hp2 NA18956.hp1 NA18989.hp1 NA19007.hp2 NA19054.hp2 NA19070.hp2 NA19078.hp1 NA19088.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0011 a0017 a0018 a0029 a0030 a0043	a0001c0001 a0001c0033 a0002c0002 others(15): Show a0001c0001 a0001c0033 a0002c0002 a0002c0008 a0003c0003 a0003c0005 a0003c0016 a0004c0006 a0005c0004 a0006c0009 a0006c0012 a0007c0085 a0011c0011 a0017c0074 a0018c0084 a0029c0058 a0030c0043 a0043c0055	a0001c0001t0005 a0001c0001t0012 a0001c0033t0004 others(22): Show a0001c0001t0005 a0001c0001t0012 a0001c0033t0004 a0002c0002t0002 a0002c0002t0008 a0002c0008t0001 a0003c0003t0003 a0003c0005t0006 a0003c0005t0069 a0003c0016t0007 a0003c0016t0017 a0003c0016t0065 a0004c0006t0002 a0004c0006t0021 a0005c0004t0001 a0005c0004t0060 a0006c0009t0050 a0006c0012t0009 a0007c0085t0026 a0011c0011t0002 a0017c0074t0004 a0018c0084t0005 a0029c0058t0025 a0030c0043t0004 a0043c0055t0027	a0001c0001t0005g0024 a0001c0001t0012g0014 a0001c0033t0004g0036 others(29): Show a0001c0001t0005g0024 a0001c0001t0012g0014 a0001c0033t0004g0036 a0002c0002t0002g0021 a0002c0002t0002g0076 a0002c0002t0002g0151 a0002c0002t0002g0182 a0002c0002t0008g0071 a0002c0008t0001g0171 a0003c0003t0003g0068 a0003c0005t0006g0012 a0003c0005t0006g0108 a0003c0005t0006g0170 a0003c0005t0069g0143 a0003c0016t0007g0130 a0003c0016t0017g0137 a0003c0016t0065g0125 a0004c0006t0002g0095 a0004c0006t0021g0081 a0005c0004t0001g0091 a0005c0004t0060g0098 a0006c0009t0050g0054 a0006c0012t0009g0055 a0006c0012t0009g0056 a0006c0012t0009g0057 a0007c0085t0026g0133 a0011c0011t0002g0246 a0017c0074t0004g0112 a0018c0084t0005g0028 a0029c0058t0025g0224 a0030c0043t0004g0221 a0043c0055t0027g0214	32	262	0.1221	-92	c.221 others(113): Show c.2215-54314_2215-54223delCAAGGCCATGGATAGTGCCCGTGG CGTGGTGTCCATGTATGATCAGCAAGGCCATGGATAGTGCACGTGGTGCG GTGACCGTGTGTGATCGG	MCPH1	ENSG00000147316.15	transcript	ENST00000344683.10	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr8	TogoVar
MCTP2_chr15_94226561_94488952	94243305	ACATACGT others(85): Show ACATACGTATGCGTACATACGTATGCGTATATGCGTATGTACATACATAC GTATGCGTATATGCGTATGTACATACATACGTATGCGTATATG	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03209.hp2 HG03486.hp2 HG00735.hp2 HG03209.hp2 HG03486.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0014 a0001c0001 a0001c0002 a0005c0014	a0001c0001t0001 a0001c0002t0001 a0005c0014t0045 a0001c0001t0001 a0001c0002t0001 a0005c0014t0045	a0001c0001t0001g0177 a0001c0002t0001g0175 a0005c0014t0045g0176 a0001c0001t0001g0177 a0001c0002t0001g0175 a0005c0014t0045g0176	3	276	0.0109	-92	c.-66 others(111): Show c.-66+11643_-66+11734delATACGTATGCGTACATACGTATGCGT ATATGCGTATGTACATACATACGTATGCGTATATGCGTATGTACATACAT ACGTATGCGTATATGC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
ME1_chr6_83205402_83436051	83243523	TATATCGA others(85): Show TATATCGATATAATCTATTATAATTATATTATATCGATATAATCTATTAT AATTACATTATATCGATATAATCTATTATAATTACATTATATC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02622.hp2 HG02630.hp1 others(6): Show HG02280.hp2 HG02622.hp2 HG02630.hp1 HG02717.hp1 HG02818.hp2 HG02922.hp2 HG03453.hp2 HG03516.hp1 NA19030.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0011 a0001c0002 a0001c0003 a0001c0011	a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 others(1): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0004 a0001c0011t0001	a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 others(6): Show a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0003t0001g0015 a0001c0003t0004g0184 a0001c0003t0004g0208 a0001c0003t0004g0210 a0001c0003t0004g0211 a0001c0011t0001g0023	9	272	0.0331	-92	c.815 others(109): Show c.815-3979_815-3888delGATATAATGTAATTATAATAGATTATAT CGATATAATGTAATTATAATAGATTATATCGATATAATATAATTATAATA GATTATATCGATAT	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	7/13			chr6	TogoVar
MELTF_chr3_196996740_197034817	197000772	ACTCTATG others(85): Show ACTCTATGCCGTGTGCCAAGCACTGTGCTGAGTGTTTTGTGTCTTAGACT CTATGCCGTGTGCCAAGCACTGTGCAGTGTTTTGTGTCTTAGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0254 a0001c0001t0003g0254	1	420	0.0024	-92	c.25 others(103): Show c.2508_*2599delACTAAGACACAAAACACTGCACAGTGCTTGGCAC ACGGCATAGAGTCTAAGACACAAAACACTCAGCACAGTGCTTGGCACACG GCATAGAG	MELTF	ENSG00000163975.14	transcript	ENST00000296350.10	protein_coding		967		chr3	TogoVar
MLPH_chr2_237482251_237560322	237544526	GGGGACAG others(85): Show GGGGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACATTGT TTATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGT	G G	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	286	0.0035	-92	c.153 others(111): Show c.1539+1870_1539+1961delGACAGTTGTTGAGTTGGGGGACACTT TAGTGTTGGGGGGGACATTGTTTATTGGGGGCATAGTGGTGTGTGGTTGT CAGTGTGTGGTGGTGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237556875	TCTCTCCC others(85): Show TCTCTCCCTCCCTCCCTCTCTCTCTGTTCTCTCTCCTCTCTCTCCCTCCC TCCCTCTCTCCCTCCCTCCCTCCCTCTCTCTCTGTTCTCTCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG03041.hp1 HG02622.hp2 HG03041.hp1	a0001 a0025 a0001 a0025	a0001c0015 a0025c0039 a0001c0015 a0025c0039	a0001c0015t0008 a0025c0039t0008 a0001c0015t0008 a0025c0039t0008	a0001c0015t0008g0141 a0025c0039t0008g0105 a0001c0015t0008g0141 a0025c0039t0008g0105	2	286	0.0070	-92	c.32 others(103): Show c.3284_*3375delCTCTCCCTCCCTCCCTCTCTCTCTGTTCTCTCTC CTCTCTCTCCCTCCCTCCCTCTCTCCCTCCCTCCCTCCCTCTCTCTCTGT TCTCTCTC	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding		1554		chr2	TogoVar
MPPED1_chr22_43407014_43512848	43495772	GGAGATGG others(85): Show GGAGATGGTGGTGGTGGAGGTGGTGATGGAGGTGGTGGTGGTGGAGGTGG TGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGTGGT	G G	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	250	0.0040	-92	c.633 others(109): Show c.633-2461_633-2370delAGATGGTGGTGGTGGAGGTGGTGATGGA GGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGG TGGTGGTGGTGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MSH3_chr5_80649652_80881815	80692356	ATAGATAA others(85): Show ATAGATAAACATGTATATGTTTAGATAGATAAACATGTATATGTTTAGAT AGATAAACATGTATATGTTTAGATAGATAAACATGTATATGTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00597.hp2 others(52): Show HG00408.hp1 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG01123.hp2 HG01346.hp2 HG01433.hp2 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02027.hp1 HG02083.hp1 HG02132.hp1 HG02148.hp2 HG02698.hp1 HG02738.hp1 HG03704.hp2 HG03834.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 NA18747.hp2 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18951.hp1 NA18959.hp1 NA18960.hp2 NA18962.hp1 NA18971.hp2 NA18977.hp1 NA18986.hp1 NA18991.hp2 NA18992.hp1 NA18999.hp1 NA19000.hp2 NA19007.hp2 NA19009.hp1 NA19056.hp2 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19078.hp1 NA19079.hp1 NA19084.hp1 NA19087.hp1 NA20300.hp1 NA20752.hp2	a0001 a0006 a0017 others(1): Show a0001 a0006 a0017 a0019	a0001c0002 a0001c0025 a0006c0042 others(2): Show a0001c0002 a0001c0025 a0006c0042 a0017c0020 a0019c0018	a0001c0002t0001 a0001c0002t0016 a0001c0025t0001 others(3): Show a0001c0002t0001 a0001c0002t0016 a0001c0025t0001 a0006c0042t0005 a0017c0020t0001 a0019c0018t0001	a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0101 others(52): Show a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0101 a0001c0002t0001g0102 a0001c0002t0001g0103 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0113 a0001c0002t0001g0116 a0001c0002t0001g0117 a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0121 a0001c0002t0001g0122 a0001c0002t0001g0123 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0129 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0142 a0001c0002t0001g0150 a0001c0002t0001g0151 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0173 a0001c0002t0001g0174 a0001c0002t0001g0175 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0016g0130 a0001c0025t0001g0118 a0006c0042t0005g0272 a0017c0020t0001g0042 a0017c0020t0001g0133 a0019c0018t0001g0127 a0019c0018t0001g0157	55	362	0.1519	-92	c.134 others(113): Show c.1340+13270_1340+13361delAACATGTATATGTTTAGATAGATA AACATGTATATGTTTAGATAGATAAACATGTATATGTTTAGATAGATAAA CATGTATATGTTTAGATA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSH3_chr5_80649652_80881815	80692380	ATAGATAA others(85): Show ATAGATAAACATGTATATGTTTAGATAGATAAACATGTATATGTTTAGAT AGATAAACATGTATATGTTTAGATAGATAAACATGTATATGTT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02630.hp1 HG02647.hp2 others(5): Show HG01496.hp1 HG02630.hp1 HG02647.hp2 HG02970.hp1 HG03041.hp1 HG03195.hp2 HG03225.hp2 NA19030.hp1	a0010 a0013 a0021 others(2): Show a0010 a0013 a0021 a0029 a0038	a0010c0014 a0013c0011 a0021c0015 others(2): Show a0010c0014 a0013c0011 a0021c0015 a0029c0036 a0038c0026	a0010c0014t0011 a0013c0011t0005 a0021c0015t0005 others(2): Show a0010c0014t0011 a0013c0011t0005 a0021c0015t0005 a0029c0036t0006 a0038c0026t0005	a0010c0014t0011g0301 a0013c0011t0005g0013 a0013c0011t0005g0014 others(5): Show a0010c0014t0011g0301 a0013c0011t0005g0013 a0013c0011t0005g0014 a0013c0011t0005g0029 a0021c0015t0005g0012 a0021c0015t0005g0030 a0029c0036t0006g0018 a0038c0026t0005g0011	8	362	0.0221	-92	c.134 others(113): Show c.1340+13294_1340+13385delAACATGTATATGTTTAGATAGATA AACATGTATATGTTTAGATAGATAAACATGTATATGTTTAGATAGATAAA CATGTATATGTTTAGATA	MSH3	ENSG00000113318.11	transcript	ENST00000265081.7	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr5	TogoVar
MSX1_chr4_4854665_4868936	4861522	GGTGTGAA others(85): Show GGTGTGAAAAAATGCATACTTAGGCAAAACCCGCGTGGTGAAACATCTTC GATTTGAATTCACTTTCTGCCGGGAAAGCTGCTGCATAGGCAA	G G	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0045 a0001c0001t0015g0045	1	440	0.0023	-92	c.469 others(109): Show c.469+1155_470-1087delGTGTGAAAAAATGCATACTTAGGCAAAA CCCGCGTGGTGAAACATCTTCGATTTGAATTCACTTTCTGCCGGGAAAGC TGCTGCATAGGCAA	MSX1	ENSG00000163132.8	transcript	ENST00000382723.5	protein_coding	1/1			chr4	TogoVar
MTUS2_chr13_28815339_29510947	29375517	ATATATAT others(85): Show ATATATATATATATATATATACGTGTATATATATATATATACGTATATAT ATATATACATATATATATATACGTATATATATATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0003 a0013c0014t0003	a0013c0014t0003g0001 a0013c0014t0003g0001	1	92	0.0109	-92	c.311 others(113): Show c.3117+16065_3117+16156delCGTGTATATATATATATATACGTA TATATATATATACATATATATATATACGTATATATATATATATATACGTA TATATATATATATATATA	MTUS2	ENSG00000132938.22	transcript	ENST00000612955.6	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr13	TogoVar
MYDGF_chr19_4652545_4675342	4663660	CAGCCTCC others(85): Show CAGCCTCCAGTATACCCTCCCCACCCACCCTGTCCTCATTCTACACAGTC TCCAATCTGTGCTCTCCCCACCCACCCCATCCTCATTCTACAA	C C	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	410	0.0024	-92	c.287 others(109): Show c.287+1124_287+1215delTTGTAGAATGAGGATGGGGTGGGTGGGG AGAGCACAGATTGGAGACTGTGTAGAATGAGGACAGGGTGGGTGGGGAGG GTATACTGGAGGCT	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYDGF_chr19_4652545_4675342	4663691	GTCCTCAT others(85): Show GTCCTCATTCTACACAGTCTCCAATCTGTGCTCTCCCCACCCACCCCATC CTCATTCTACAAAGCCTCCAATCTACCCTCCCCACCCACCCCA	G G	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0137 a0002c0002t0002g0137	1	410	0.0024	-92	c.287 others(109): Show c.287+1093_287+1184delTGGGGTGGGTGGGGAGGGTAGATTGGAG GCTTTGTAGAATGAGGATGGGGTGGGTGGGGAGAGCACAGATTGGAGACT GTGTAGAATGAGGA	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding	3/5			chr19	TogoVar
MYDGF_chr19_4652545_4675342	4672284	CATATATA others(85): Show CATATATATATACTTATATTCATATATTCATATATATACTTATATTCATA TATTCATATATATACTTATATTCATATATTCATATATATACTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02630.hp1 HG02723.hp2 others(4): Show HG02145.hp1 HG02630.hp1 HG02723.hp2 HG03098.hp2 HG03225.hp2 HG03579.hp2 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0004 a0002c0002t0003 a0002c0002t0004	a0002c0002t0003g0016 a0002c0002t0003g0077 a0002c0002t0003g0078 others(3): Show a0002c0002t0003g0016 a0002c0002t0003g0077 a0002c0002t0003g0078 a0002c0002t0003g0091 a0002c0002t0004g0075 a0002c0002t0004g0076	7	410	0.0171	-92	c.-20 others(103): Show c.-2042_-1951delAAGTATATATATGAATATATGAATATAAGTATAT ATATGAATATATGAATATAAGTATATATATGAATATATGAATATAAGTAT ATATATAT	MYDGF	ENSG00000074842.8	transcript	ENST00000262947.8	protein_coding		1943		chr19	TogoVar
MYL10_chr7_101608330_101634296	101609703	CCCTCCCT others(85): Show CCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCC CTCCCTCCCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	398	0.0025	-92	c.36 others(103): Show c.3680_*3771delAAGGGAGGGAGGGAGGAAGGCAGGGAGGGAGGAA GGGAGGGAGGGAGGAAGGCAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGG GAGGGAGG	MYL10	ENSG00000106436.8	transcript	ENST00000223167.5	protein_coding		3626		chr7	TogoVar
MYO1D_chr17_32487522_32882124	32715964	CAAGCCAC others(85): Show CAAGCCACCTTCTAGTTTACAACAGACTCCTAAATTATTTTCCATTTCCT TTCCAATCCATTCTGCATACATCAGTCAGAGTAGTTTTCTAAA	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0171 a0001c0001t0007g0171	1	244	0.0041	-92	c.191 others(111): Show c.1914-3861_1914-3770delTTTAGAAAACTACTCTGACTGATGTA TGCAGAATGGATTGGAAAGGAAATGGAAAATAATTTAGGAGTCTGTTGTA AACTAGAAGGTGGCTT	MYO1D	ENSG00000176658.17	transcript	ENST00000318217.10	protein_coding	15/21			chr17	TogoVar
MYZAP_chr15_57586904_57690364	57688313	ATGTGTGT others(85): Show ATGTGTGTACAATATACACATATATATAATATGTGTGTACAATATACACA TATATATAATATGTGTGTACAATATACACATATAATATAAAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02056.hp2 NA18956.hp1 others(3): Show HG01109.hp2 HG02056.hp2 NA18956.hp1 NA18975.hp1 NA18980.hp2 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0006 a0002c0002t0002 a0002c0002t0005 a0001c0003t0006 a0002c0002t0002 a0002c0002t0005	a0001c0003t0006g0116 a0002c0002t0002g0051 a0002c0002t0002g0097 others(3): Show a0001c0003t0006g0116 a0002c0002t0002g0051 a0002c0002t0002g0097 a0002c0002t0005g0062 a0002c0002t0005g0063 a0002c0002t0005g0070	6	352	0.0171	-92	c.38 others(103): Show c.3816_*3907delTGTGTGTACAATATACACATATATATAATATGTG TGTACAATATACACATATATATAATATGTGTGTACAATATACACATATAA TATAAAAT	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		2950		chr15	TogoVar
MYZAP_chr15_57586904_57690364	57688556	CTATATAT others(85): Show CTATATATACTCTATATGTGTACAATGTGCACATATATACTCTATATGTG TACAATGTGCACATATATACTCTATATGTGTACAATGTGCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00673.hp1 others(7): Show HG00438.hp2 HG00597.hp1 HG00673.hp1 HG02027.hp1 HG02109.hp2 HG02486.hp1 HG02615.hp1 HG03098.hp1 NA19064.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0163 a0002c0002t0002g0012 a0002c0002t0002g0017 others(7): Show a0001c0001t0001g0163 a0002c0002t0002g0012 a0002c0002t0002g0017 a0002c0002t0002g0047 a0002c0002t0002g0057 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0102	10	352	0.0284	-92	c.40 others(103): Show c.4059_*4150delTATATATACTCTATATGTGTACAATGTGCACATA TATACTCTATATGTGTACAATGTGCACATATATACTCTATATGTGTACAA TGTGCACA	MYZAP	ENSG00000263155.6	transcript	ENST00000267853.10	protein_coding		3193		chr15	TogoVar
NAALADL2_chr3_174854334_175815548	175218445	GTTTGTTT others(85): Show GTTTGTTTTTGCTTTTGTTTTAAACTCTTTTTTTATCCAAATATAATATA TATGCAGCAAAGTATACAAACCTTAAGTTAAATTTTATAAAGT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp2 HG03130.hp2 HG02258.hp2 HG02615.hp2 HG03130.hp2	a0004 a0008 a0011 a0004 a0008 a0011	a0004c0002 a0008c0018 a0011c0021 a0004c0002 a0008c0018 a0011c0021	a0004c0002t0002 a0008c0018t0001 a0011c0021t0003 a0004c0002t0002 a0008c0018t0001 a0011c0021t0003	a0004c0002t0002g0048 a0008c0018t0001g0043 a0011c0021t0003g0042 a0004c0002t0002g0048 a0008c0018t0001g0043 a0011c0021t0003g0042	3	64	0.0469	-92	c.546 others(111): Show c.546-15485_546-15394delTTTGTTTTTGCTTTTGTTTTAAACTC TTTTTTTATCCAAATATAATATATATGCAGCAAAGTATACAAACCTTAAG TTAAATTTTATAAAGT	NAALADL2	ENSG00000177694.16	transcript	ENST00000454872.6	protein_coding	2/13			chr3	TogoVar
NEK1_chr4_169387809_169617583	169425106	GGGAGGAT others(85): Show GGGAGGATTGCTTGAGGCCAGGAGTTTGAAACCAGCCTGAGCAACTAAGT GAGACTCTCTCTCCACAAAAAATAAAATAAAATTAGCCAAGGT	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp2 HG03540.hp2 HG02055.hp1 HG02258.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0015 a0001c0001 a0001c0015	a0001c0001t0002 a0001c0015t0002 a0001c0001t0002 a0001c0015t0002	a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0015t0002g0171 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0015t0002g0171	3	260	0.0115	-92	c.297 others(109): Show c.2975-398_2975-307delACCTTGGCTAATTTTATTTTATTTTTTG TGGAGAGAGAGTCTCACTTAGTTGCTCAGGCTGGTTTCAAACTCCTGGCC TCAAGCAATCCTCC	NEK1	ENSG00000137601.18	transcript	ENST00000507142.6	protein_coding	30/35			chr4	TogoVar
NHSL2_chrX_71905845_72158286	72085754	ACCACATA others(85): Show ACCACATAGAGGCAACTAAAAATCCTCTTTGAGGAGTTGGGTCCCAGGCA GTGCAGCTGCTCCCTACTCCCTCCCTACCACCCGTATGCTGCG	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01167.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0160 a0001c0001t0019g0161 a0001c0001t0019g0160 a0001c0001t0019g0161	2	187	0.0107	-92	c.281 others(111): Show c.281-46322_281-46231delACATAGAGGCAACTAAAAATCCTCTT TGAGGAGTTGGGTCCCAGGCAGTGCAGCTGCTCCCTACTCCCTCCCTACC ACCCGTATGCTGCGCC	NHSL2	ENSG00000204131.11	transcript	ENST00000633930.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
NMRK2_chr19_3928069_3947416	3937320	ATCCCCCG others(85): Show ATCCCCCGGGGTCCGCCCTCCTGCAATGCCCGCTCCCCCTCCACTATTCC CCCGGGGTCCGCCCTCCTGCAATGCCCGCTCCCCCTCCACTAT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02895.hp1 HG03041.hp1 others(3): Show HG02723.hp2 HG02895.hp1 HG03041.hp1 HG03130.hp2 NA18963.hp2 NA19005.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0004 a0001c0001t0001 a0003c0006t0004	a0001c0001t0001g0196 a0001c0001t0001g0197 a0003c0006t0004g0025 others(1): Show a0001c0001t0001g0196 a0001c0001t0001g0197 a0003c0006t0004g0025 a0003c0006t0004g0026	6	404	0.0149	-92	c.166 others(107): Show c.166+131_166+222delGGGGTCCGCCCTCCTGCAATGCCCGCTCCC CCTCCACTATTCCCCCGGGGTCCGCCCTCCTGCAATGCCCGCTCCCCCTC CACTATTCCCCC	NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
NMRK2_chr19_3928069_3947416	3937419	GGGGTCCG others(85): Show GGGGTCCGCCCTCCTGCAATGCCCGCTCCCCCTCCACTATTCCCCCGGGG TCCGCCCTCCTGCAATGCCCGCTCCCCCTCCACTATTCCCCCA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19083.hp2 HG02559.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0183 a0001c0001t0002g0071 a0001c0001t0001g0183 a0001c0001t0002g0071	2	404	0.0050	-92	c.166 others(107): Show c.166+223_166+314delAGGGTCCGCCCTCCTGCAATGCCCGCTCCC CCTCCACTATTCCCCCGGGGTCCGCCCTCCTGCAATGCCCGCTCCCCCTC CACTATTCCCCC	NMRK2	ENSG00000077009.14	transcript	ENST00000168977.7	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
NOL4L_chr20_32438059_32590333	32488766	CCTTCCTT others(85): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTTTCTTTCTT TCTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01167.hp2 HG01169.hp1 others(2): Show HG00738.hp1 HG01167.hp2 HG01169.hp1 HG02895.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0017 a0001c0002t0003 a0001c0002t0017	a0001c0002t0003g0161 a0001c0002t0003g0183 a0001c0002t0003g0186 others(2): Show a0001c0002t0003g0161 a0001c0002t0003g0183 a0001c0002t0003g0186 a0001c0002t0017g0067 a0001c0002t0017g0170	5	196	0.0255	-92	c.700 others(111): Show c.700-14116_700-14025delAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAAAGAAAGAAAGAAAGAAAGAAAAAGAAAGAAAGAAAGGAAGGAAG GAAGGAAGGAAGGAAG	NOL4L	ENSG00000197183.15	transcript	ENST00000621426.7	protein_coding	4/10			chr20	TogoVar
NOP14_chr4_2932936_2968406	2946075	TCTCACTC others(85): Show TCTCACTCCAGATCACCCTCACTGCCGTGCACTCTCACTCCAGATCACCC TCGCTGCCGTGCACTCACTCCAGATCACCCTCACTGCCGTGCA	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0259 a0002c0002t0004g0259	1	422	0.0024	-92	c.163 others(109): Show c.1635+245_1635+336delTGCACGGCAGTGAGGGTGATCTGGAGTG AGTGCACGGCAGCGAGGGTGATCTGGAGTGAGAGTGCACGGCAGTGAGGG TGATCTGGAGTGAG	NOP14	ENSG00000087269.16	transcript	ENST00000416614.7	protein_coding	11/17			chr4	TogoVar
NRCAM_chr7_108142649_108461436	108163815	ATGAGAGG others(85): Show ATGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACTGGGT GGGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02965.hp1 HG03579.hp1 others(1): Show HG02145.hp2 HG02965.hp1 HG03579.hp1 NA19030.hp2	a0002 a0003 a0002 a0003	a0002c0007 a0002c0024 a0003c0011 a0002c0007 a0002c0024 a0003c0011	a0002c0007t0002 a0002c0024t0006 a0003c0011t0006 a0002c0007t0002 a0002c0024t0006 a0003c0011t0006	a0002c0007t0002g0003 a0002c0024t0006g0100 a0003c0011t0006g0020 others(1): Show a0002c0007t0002g0003 a0002c0024t0006g0100 a0003c0011t0006g0020 a0003c0011t0006g0026	4	208	0.0192	-92	c.346 others(111): Show c.3466+3014_3466+3105delCTACCCCACCCCACCCGGTATGACCT CTCATTACCGCCACCCCACCCAGTATGACCTCTCATTACCGCCACCCCAC CCGGTATGACCTCTCA	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NRCAM_chr7_108142649_108461436	108164054	GCGGTAAT others(85): Show GCGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATAC CGGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTGGGGTGGC	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0002 a0006c0015t0002	a0006c0015t0002g0167 a0006c0015t0002g0167	1	208	0.0048	-92	c.346 others(111): Show c.3466+2775_3466+2866delGCCACCCCACCCGGTATGACCTCTCA TTACCCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCTGGTA TGACCTCTCATTACCG	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar

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