Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CMKLR2_chr2_206170316_206218371	206172885	AGGGAGAC others(55): Show AGGGAGACGGGAGAGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAG AGGGAGACGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01516.hp1 HG01981.hp2 others(2): Show HG01192.hp2 HG01516.hp1 HG01981.hp2 HG01993.hp1 HG02293.hp2	a0002 a0008 a0002 a0008	a0002c0003 a0008c0010 a0002c0003 a0008c0010	a0002c0003t0003 a0008c0010t0003 a0002c0003t0003 a0008c0010t0003	a0002c0003t0003g0001 a0002c0003t0003g0028 a0002c0003t0003g0241 others(2): Show a0002c0003t0003g0001 a0002c0003t0003g0028 a0002c0003t0003g0241 a0002c0003t0003g0246 a0008c0010t0003g0243	5	322	0.0155	-62	c.32 others(73): Show c.3233_*3294delCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCGTCT CCCTCTCCCTCTCCCTCTCCCGTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2430		chr2	TogoVar
CMKLR2_chr2_206170316_206218371	206172910	AGGGAGAC others(55): Show AGGGAGACGGGAGAGGGAGAGGGAGAGGGAGACGGGAGAGGGAGAGGGAG AGGGAGACGGGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 NA18961.hp2 HG02071.hp2 NA18961.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0097 a0002c0002t0001g0138 a0002c0002t0001g0097 a0002c0002t0001g0138	2	322	0.0062	-62	c.32 others(73): Show c.3208_*3269delCTCCCGTCTCCCTCTCCCTCTCCCTCTCCCGTCT CCCTCTCCCTCTCCCTCTCCCGTCTCCC	CMKLR2	ENSG00000183671.13	transcript	ENST00000621141.5	protein_coding		2405		chr2	TogoVar
CNGA1_chr4_47930977_48021681	47976281	GTATATAT others(55): Show GTATATATATATATACACATACATATATATATACATATATATGTATATAT ATATATACACATA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(48): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00639.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01123.hp1 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01261.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01993.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02132.hp1 HG02280.hp1 HG03239.hp1 HG03491.hp2 HG03654.hp1 HG03704.hp1 HG03831.hp1 HG03927.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18949.hp2 NA19001.hp1 NA19063.hp1 NA19080.hp2 NA19082.hp1 NA19086.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0005c0007	a0001c0001t0001 a0001c0003t0003 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0003t0003 a0001c0004t0001 a0002c0002t0001 a0005c0007t0001	a0001c0001t0001g0015 a0001c0001t0001g0213 a0001c0001t0001g0218 others(47): Show a0001c0001t0001g0015 a0001c0001t0001g0213 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0234 a0001c0001t0001g0253 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0346 a0001c0003t0003g0020 a0001c0004t0001g0208 a0001c0004t0001g0214 a0001c0004t0001g0215 a0001c0004t0001g0216 a0001c0004t0001g0220 a0001c0004t0001g0233 a0001c0004t0001g0321 a0002c0002t0001g0312 a0005c0007t0001g0313	51	366	0.1393	-62	c.-15 others(79): Show c.-15+5050_-15+5111delTATGTGTATATATATATATACATATATA TGTATATATATATGTATGTGTATATATATATATA	CNGA1	ENSG00000198515.16	transcript	ENST00000514170.7	protein_coding	3/10			chr4	TogoVar
CNNM4_chr2_96755902_96816874	96772726	CGTGCACA others(55): Show CGTGCACACACACACACACACTCATACCCCCACATAGGCACAGGCAGGCG CTCACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	270	0.0037	-62	c.140 others(83): Show c.1402+10327_1402+10388delTGCACACACACACACACACTCATA CCCCCACATAGGCACAGGCAGGCGCTCACACACACATG	CNNM4	ENSG00000158158.12	transcript	ENST00000377075.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNNM4_chr2_96755902_96816874	96801585	ACAGAGAG others(55): Show ACAGAGAGACCACACACACAGAGACCACACACAGAGACCACACGCAGAGA GACCACACACATG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03209.hp2 HG03486.hp1 HG02145.hp1 HG03209.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006	3	270	0.0111	-62	c.194 others(81): Show c.1948+1957_1948+2018delGAGACCACACACAGAGACCACACGCA GAGAGACCACACACATGCAGAGAGACCACACACACA	CNNM4	ENSG00000158158.12	transcript	ENST00000377075.3	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
CNTN1_chr12_40687439_41077415	40773634	TATATATA others(55): Show TATATATATATATATATATATACACATATATATATATATACACATATATA TATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00642.hp1 HG01099.hp1 others(13): Show HG00323.hp1 HG00642.hp1 HG01099.hp1 HG01167.hp2 HG01169.hp2 HG01361.hp1 HG01981.hp1 HG02027.hp1 HG03834.hp2 NA18953.hp1 NA18957.hp2 NA18959.hp1 NA18964.hp2 NA18972.hp2 NA18977.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0005 a0001c0003t0005 a0001c0003t0011	a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0002g0005 others(13): Show a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0002g0005 a0001c0001t0002g0159 a0001c0001t0003g0084 a0001c0001t0003g0154 a0001c0001t0003g0166 a0001c0001t0003g0200 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0005g0098 a0001c0003t0005g0070 a0001c0003t0005g0071 a0001c0003t0005g0072 a0001c0003t0005g0104 a0001c0003t0011g0227	16	230	0.0696	-62	c.-77 others(81): Show c.-77+81062_-77+81123delTACACATATATATATATATACACATA TATATATATATATACACATATATATATATATATATA	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTNAP2_chr7_146111801_148425998	147084313	CATATATG others(55): Show CATATATGCATAATGCTATATATGTATATATAATATATGCATAATGCTAT ATATGTATATATA	C C	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03540.hp2 HG02630.hp2 HG03540.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0004 a0001c0002t0002 a0001c0003t0004	a0001c0002t0002g0013 a0001c0003t0004g0029 a0001c0002t0002g0013 a0001c0003t0004g0029	2	40	0.0500	-62	c.551 others(81): Show c.551-23799_551-23738delTATGCATAATGCTATATATGTATATA TAATATATGCATAATGCTATATATGTATATATAATA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	148365887	TATGTGTA others(55): Show TATGTGTATGCATGTATACATGCGTGTATGCATGTATACATGCGTGTATG CATGTATACATGC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG03225.hp2 HG02886.hp1 HG03225.hp2	a0001 a0001	a0001c0003 a0001c0018 a0001c0003 a0001c0018	a0001c0003t0013 a0001c0018t0002 a0001c0003t0013 a0001c0018t0002	a0001c0003t0013g0010 a0001c0018t0002g0012 a0001c0003t0013g0010 a0001c0018t0002g0012	2	40	0.0500	-62	c.347 others(83): Show c.3476-17761_3476-17700delATGTGTATGCATGTATACATGCGT GTATGCATGTATACATGCGTGTATGCATGTATACATGC	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	21/23			chr7	TogoVar
CNTNAP3B_chr9_41885536_42134426	42118830	TCAAAATC others(55): Show TCAAAATCAAGATTTTGTATCTTGATTTGATACAAAATCAAGATTTTGTA TCTTGATTTGATA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp1 HG02622.hp1 others(1): Show HG02486.hp1 HG02559.hp1 HG02622.hp1 HG03041.hp1	a0014 a0015 a0017 others(1): Show a0014 a0015 a0017 a0032	a0014c0018 a0015c0019 a0017c0014 others(1): Show a0014c0018 a0015c0019 a0017c0014 a0032c0039	a0014c0018t0001 a0015c0019t0001 a0017c0014t0001 others(1): Show a0014c0018t0001 a0015c0019t0001 a0017c0014t0001 a0032c0039t0014	a0014c0018t0001g0067 a0015c0019t0001g0066 a0017c0014t0001g0038 others(1): Show a0014c0018t0001g0067 a0015c0019t0001g0066 a0017c0014t0001g0038 a0032c0039t0014g0025	4	108	0.0370	-62	c.85+ others(79): Show c.85+10118_85+10179delTATCAAATCAAGATACAAAATCTTGATT TTGTATCAAATCAAGATACAAAATCTTGATTTTG	CNTNAP3B	ENSG00000154529.15	transcript	ENST00000377561.7	protein_coding	1/23			chr9	TogoVar
COG1_chr17_73188055_73213507	73192850	GCCCCCTC others(55): Show GCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCTC GCGCCCGCCCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 NA18971.hp2 homoSapiens_chm13v2.hp1 HG01358.hp1 NA18971.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0002 a0002c0001t0001g0022 a0002c0001t0001g0002 a0002c0001t0001g0022	3	428	0.0070	-62	c.-21 others(71): Show c.-219_-158delCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCTCG CGCCCGCCCCCTCGCGCCCGCCCCCT	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		204		chr17	TogoVar
COL2A1_chr12_47967967_48009476	47971711	TATAATAT others(55): Show TATAATATATGTATATATTATTATATTGTATAATAATATATGTATATATT ATTATATTGTATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02809.hp1 HG03098.hp2 others(10): Show HG02055.hp2 HG02809.hp1 HG03098.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp1 NA19060.hp2 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0001c0004 a0003c0005 others(2): Show a0001c0003 a0001c0004 a0003c0005 a0003c0019 a0003c0021	a0001c0003t0001 a0001c0003t0007 a0001c0004t0001 others(4): Show a0001c0003t0001 a0001c0003t0007 a0001c0004t0001 a0003c0005t0002 a0003c0005t0009 a0003c0019t0001 a0003c0021t0002	a0001c0003t0001g0228 a0001c0003t0001g0263 a0001c0003t0007g0021 others(7): Show a0001c0003t0001g0228 a0001c0003t0001g0263 a0001c0003t0007g0021 a0001c0004t0001g0227 a0003c0005t0002g0112 a0003c0005t0009g0061 a0003c0005t0009g0106 a0003c0019t0001g0034 a0003c0019t0001g0113 a0003c0021t0002g0066	13	414	0.0314	-62	c.16 others(73): Show c.1634_*1695delTATACAATATAATAATATATACATATATTATTAT ACAATATAATAATATATACATATATTAT	COL2A1	ENSG00000139219.19	transcript	ENST00000380518.8	protein_coding		1255		chr12	TogoVar
COL4A1_chr13_110143963_110312157	110252450	TGTATTAT others(55): Show TGTATTATATACATATAATTATATGTATTATATATACGTATAATTATACG TATATATGTATTA	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	344	0.0029	-62	c.85- others(77): Show c.85-9778_85-9717delTAATACATATATACGTATAATTATACGTAT ATATAATACATATAATTATATGTATATAATAC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A3_chr2_227159624_227319792	227203517	GTATATAT others(55): Show GTATATATGTGTATATATACATATATGTGTGTATATATGTGTATATATAC ATATATGTGTGTA	G G	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0003 a0011c0021t0003	a0011c0021t0003g0323 a0011c0021t0003g0323	1	344	0.0029	-62	c.88- others(79): Show c.88-34445_88-34384delATGTGTATATATACATATATGTGTGTAT ATATGTGTATATATACATATATGTGTGTATATAT	COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041787	GGAAAGAA others(55): Show GGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0006 a0013c0013t0006	a0013c0013t0006g0144 a0013c0013t0006g0144	1	284	0.0035	-62	c.350 others(79): Show c.3505+299_3505+360delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTCCTTTCTTTCTTTCTTTC	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL5A1_chr9_134636803_134849843	134679573	GCTAGGGG others(55): Show GCTAGGGGCACTGTGGGGCTGGTTGGGCACTGCGGGGCTGGTTGGGGGCA CTGCGGGGCTTCT	G G	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0247 a0001c0003t0014g0247	1	272	0.0037	-62	c.110 others(81): Show c.110-11338_110-11277delCTAGGGGCACTGTGGGGCTGGTTGGG CACTGCGGGGCTGGTTGGGGGCACTGCGGGGCTTCT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65			chr9	TogoVar
COL6A1_chr21_45976770_46010048	45987952	CGGGGTCC others(55): Show CGGGGTCCAGATGGAGGGGACGTCGGGGCTCCAGATGGAGGGGACGGCGG GAGTCCAGATGGA	C C	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0015 a0001c0003t0003g0015	1	128	0.0078	-62	c.804 others(77): Show c.804+303_804+364delTCCAGATGGAGGGGACGTCGGGGCTCCAGA TGGAGGGGACGGCGGGAGTCCAGATGGAGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46111586	GCCCAGGT others(55): Show GCCCAGGTGCCAGGGGTCGGGGGCCGGGGGCTCTGGGCATTTGGGGGGCA GTTGGGACCAGTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(159): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02809.hp2 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18972.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18990.hp2 NA18994.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp2 NA19030.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 others(13): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0020 a0001c0021 a0001c0023 a0001c0024 a0001c0027 a0001c0028 a0001c0029 a0001c0030	a0001c0001t0001 a0001c0002t0007 a0001c0002t0009 others(18): Show a0001c0001t0001 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0006t0005 a0001c0006t0006 a0001c0009t0001 a0001c0010t0001 a0001c0011t0001 a0001c0012t0001 a0001c0020t0001 a0001c0021t0001 a0001c0023t0001 a0001c0024t0001 a0001c0027t0003 a0001c0028t0006 a0001c0029t0001 a0001c0030t0001	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 others(147): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0192 a0001c0001t0001g0218 a0001c0001t0001g0233 a0001c0001t0001g0241 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0337 a0001c0002t0007g0201 a0001c0002t0009g0020 a0001c0002t0009g0256 a0001c0002t0009g0262 a0001c0002t0009g0265 a0001c0002t0009g0334 a0001c0002t0009g0338 a0001c0002t0010g0123 a0001c0005t0001g0005 a0001c0005t0001g0036 a0001c0005t0001g0040 a0001c0005t0001g0100 a0001c0005t0001g0104 a0001c0005t0001g0110 a0001c0005t0001g0112 a0001c0005t0001g0118 a0001c0005t0001g0130 a0001c0005t0001g0157 a0001c0005t0001g0158 a0001c0005t0001g0165 a0001c0005t0001g0171 a0001c0005t0001g0190 a0001c0005t0001g0264 a0001c0005t0002g0177 a0001c0005t0003g0127 a0001c0005t0003g0141 a0001c0005t0003g0142 a0001c0005t0003g0251 a0001c0006t0005g0057 a0001c0006t0005g0058 a0001c0006t0005g0059 a0001c0006t0005g0064 a0001c0006t0005g0236 a0001c0006t0005g0237 a0001c0006t0005g0238 a0001c0006t0006g0239 a0001c0006t0006g0248 a0001c0006t0006g0249 a0001c0006t0006g0250 a0001c0006t0006g0266 a0001c0006t0006g0267 a0001c0006t0006g0268 a0001c0009t0001g0106 a0001c0009t0001g0111 a0001c0009t0001g0115 a0001c0009t0001g0120 a0001c0009t0001g0121 a0001c0009t0001g0148 a0001c0010t0001g0172 a0001c0010t0001g0191 a0001c0011t0001g0335 a0001c0011t0001g0336 a0001c0012t0001g0240 a0001c0012t0001g0257 a0001c0020t0001g0181 a0001c0021t0001g0180 a0001c0023t0001g0034 a0001c0024t0001g0009 a0001c0027t0003g0252 a0001c0028t0006g0247 a0001c0029t0001g0143 a0001c0030t0001g0160	162	372	0.4355	-62	c.116 others(77): Show c.116-190_116-129delCGGGGGCCGGGGGCTCTGGGCATTTGGGGG GCAGTTGGGACCAGTACCCAGGTGCCAGGGGT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46111586	GCCCAGGT others(55): Show GCCCAGGTGCCAGGGGTCGGGGGCCGGGGGCTCTGGGCATTTGGGGGGCA GTTGGGACCAGTA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(154): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02809.hp2 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18988.hp1 NA18990.hp2 NA18994.hp1 NA18998.hp2 NA19000.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp2 NA19030.hp2 NA19054.hp1 NA19055.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp1 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(23): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0009 a0001c0011 a0001c0014 a0001c0018 a0001c0019 a0001c0020 a0001c0021 a0001c0022 a0001c0025 a0001c0026 a0001c0034 a0001c0036 a0001c0037 a0001c0038 a0001c0040 a0001c0041 a0001c0044 a0001c0046 a0001c0047 a0001c0048 a0001c0049	a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 others(28): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0006t0001 a0001c0006t0010 a0001c0007t0003 a0001c0007t0005 a0001c0009t0001 a0001c0011t0001 a0001c0014t0001 a0001c0018t0001 a0001c0019t0001 a0001c0020t0001 a0001c0021t0006 a0001c0022t0001 a0001c0025t0001 a0001c0026t0005 a0001c0034t0001 a0001c0036t0001 a0001c0037t0001 a0001c0038t0001 a0001c0040t0001 a0001c0041t0001 a0001c0044t0003 a0001c0046t0001 a0001c0047t0001 a0001c0048t0001 a0001c0049t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(147): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0122 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0214 a0001c0001t0001g0229 a0001c0001t0001g0237 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0006g0132 a0001c0001t0006g0171 a0001c0001t0011g0334 a0001c0002t0001g0039 a0001c0002t0002g0123 a0001c0004t0001g0007 a0001c0004t0001g0037 a0001c0004t0001g0042 a0001c0004t0001g0102 a0001c0004t0001g0104 a0001c0004t0001g0110 a0001c0004t0001g0112 a0001c0004t0001g0118 a0001c0004t0001g0127 a0001c0004t0001g0131 a0001c0004t0001g0142 a0001c0004t0001g0143 a0001c0004t0001g0156 a0001c0004t0001g0157 a0001c0004t0001g0162 a0001c0004t0001g0168 a0001c0004t0001g0174 a0001c0004t0001g0186 a0001c0004t0001g0248 a0001c0004t0001g0261 a0001c0006t0001g0002 a0001c0006t0001g0151 a0001c0006t0001g0165 a0001c0006t0001g0166 a0001c0006t0001g0167 a0001c0006t0001g0180 a0001c0006t0001g0188 a0001c0006t0001g0242 a0001c0006t0010g0164 a0001c0007t0003g0246 a0001c0007t0003g0247 a0001c0007t0003g0263 a0001c0007t0003g0264 a0001c0007t0003g0265 a0001c0007t0005g0059 a0001c0007t0005g0060 a0001c0007t0005g0061 a0001c0007t0005g0066 a0001c0009t0001g0021 a0001c0009t0001g0253 a0001c0009t0001g0259 a0001c0009t0001g0262 a0001c0009t0001g0331 a0001c0009t0001g0335 a0001c0011t0001g0106 a0001c0011t0001g0111 a0001c0011t0001g0115 a0001c0011t0001g0120 a0001c0011t0001g0121 a0001c0011t0001g0177 a0001c0014t0001g0002 a0001c0014t0001g0003 a0001c0014t0001g0012 a0001c0018t0001g0169 a0001c0018t0001g0187 a0001c0019t0001g0332 a0001c0019t0001g0333 a0001c0020t0001g0002 a0001c0020t0001g0117 a0001c0021t0006g0145 a0001c0021t0006g0176 a0001c0022t0001g0236 a0001c0022t0001g0254 a0001c0025t0001g0232 a0001c0025t0001g0235 a0001c0026t0005g0233 a0001c0026t0005g0234 a0001c0034t0001g0178 a0001c0036t0001g0035 a0001c0037t0001g0012 a0001c0038t0001g0129 a0001c0040t0001g0008 a0001c0041t0001g0128 a0001c0044t0003g0197 a0001c0046t0001g0249 a0001c0047t0001g0245 a0001c0048t0001g0144 a0001c0049t0001g0158	157	364	0.4313	-62	c.116 others(77): Show c.116-190_116-129delCGGGGGCCGGGGGCTCTGGGCATTTGGGGG GCAGTTGGGACCAGTACCCAGGTGCCAGGGGT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL9A3_chr20_62812050_62846159	62815870	TAATTTTT others(55): Show TAATTTTTGGTAGACATGAGGCCTCCCTCTGTCTCCAAGCTGGCCACGCC CGGCCGATGTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	412	0.0024	-62	c.-11 others(73): Show c.-1194_-1133delAATTTTTGGTAGACATGAGGCCTCCCTCTGTCTC CAAGCTGGCCACGCCCGGCCGATGTTTC	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding		1179		chr20	TogoVar
COLEC11_chr2_3590112_3649644	3640943	TCCCACGG others(55): Show TCCCACGGTGGACACCCACCCACCATGTAGACCCCACGGTGGACACCCAC CCACCATGTAGAC	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG04199.hp1 HG02055.hp2 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0001 a0002c0002t0001 a0002c0003t0001	a0002c0002t0001g0208 a0002c0003t0001g0171 a0002c0002t0001g0208 a0002c0003t0001g0171	2	378	0.0053	-62	c.328 others(77): Show c.328+748_328+809delCACCCACCCACCATGTAGACCCCACGGTGG ACACCCACCCACCATGTAGACCCCACGGTGGA	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COQ8A_chr1_226935294_226992544	226956459	GCCACTCC others(55): Show GCCACTCCCTGGTTCACACTCTCCCTGGCTCCCACTCTCCCTGGTTCACA CTCTCCCTGGCTC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0077 a0001c0003t0003g0077	1	412	0.0024	-62	c.-9- others(77): Show c.-9-4825_-9-4764delCCACTCTCCCTGGTTCACACTCTCCCTGGC TCCCACTCCCTGGTTCACACTCTCCCTGGCTC	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8A_chr1_226935294_226992544	226956784	CCACTCTC others(55): Show CCACTCTCCCTCGTTCACACTCTCCCTGGCTGCCACTCCCTGGTTCACAC TCTCCCTGGCTCT	C C	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA19000.hp1 NA19087.hp2 NA18951.hp1 NA19000.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0275 a0001c0001t0002g0278 a0001c0001t0002g0048 a0001c0001t0002g0275 a0001c0001t0002g0278	3	412	0.0073	-62	c.-9- others(77): Show c.-9-4582_-9-4521delCGTTCACACTCTCCCTGGCTGCCACTCCCT GGTTCACACTCTCCCTGGCTCTCACTCTCCCT	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
CORIN_chr4_47589001_47843067	47798846	ATAGTCCC others(55): Show ATAGTCCCCAGTTGTCTATTGTTCCCATCTTTATGACCATGAGACTCTAG TAGTAGACTCTAG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp2 HG02723.hp2 others(3): Show HG02559.hp2 HG02615.hp2 HG02723.hp2 HG03209.hp1 HG03486.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0006 a0002c0026 a0001c0002 a0001c0006 a0002c0026	a0001c0002t0001 a0001c0006t0002 a0002c0026t0002 a0001c0002t0001 a0001c0006t0002 a0002c0026t0002	a0001c0002t0001g0095 a0001c0002t0001g0160 a0001c0006t0002g0158 others(3): Show a0001c0002t0001g0095 a0001c0002t0001g0160 a0001c0006t0002g0158 a0001c0006t0002g0159 a0001c0006t0002g0161 a0002c0026t0002g0257	6	264	0.0227	-62	c.208 others(79): Show c.208+7995_208+8056delCTAGAGTCTACTACTAGAGTCTCATGGT CATAAAGATGGGAACAATAGACAACTGGGGACTA	CORIN	ENSG00000145244.12	transcript	ENST00000273857.9	protein_coding	2/21			chr4	TogoVar
CPA2_chr7_130261863_130294798	130294163	TAAGGAAC others(55): Show TAAGGAACGCGCTCAAGGCCACTTAGCTGGGAAGCAGGGGAGCTGGAACT CTGAACGTAAAAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	400	0.0025	-62	c.44 others(73): Show c.4417_*4478delAAGGAACGCGCTCAAGGCCACTTAGCTGGGAAGC AGGGGAGCTGGAACTCTGAACGTAAAAC	CPA2	ENSG00000158516.12	transcript	ENST00000222481.9	protein_coding		4366		chr7	TogoVar
CPNE7_chr16_89570758_89602246	89587741	ACGGCCCC others(55): Show ACGGCCCCCGTGTCACCCGCGTGTCACCCACAGAAACACGGCCCCCGTGT CACCCACAGATAC	A A	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0018 a0001c0002t0003g0018	1	348	0.0029	-62	c.927 others(77): Show c.927+640_927+701delCGGCCCCCGTGTCACCCGCGTGTCACCCAC AGAAACACGGCCCCCGTGTCACCCACAGATAC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
CPNE7_chr16_89570758_89602246	89588092	CCCCCGTG others(55): Show CCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCGCGTGTCACC CACAGATACACGG	C C	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03209.hp1 NA18906.hp1 others(2): Show HG03195.hp1 HG03209.hp1 NA18906.hp1 NA18941.hp2 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0003 a0001c0007t0006 a0001c0002t0003 a0001c0007t0006	a0001c0002t0003g0031 a0001c0002t0003g0034 a0001c0007t0006g0166 others(2): Show a0001c0002t0003g0031 a0001c0002t0003g0034 a0001c0007t0006g0166 a0001c0007t0006g0282 a0001c0007t0006g0293	5	348	0.0144	-62	c.928 others(77): Show c.928-578_928-517delGTGTCACCCACAGATACACGGCCCCCGTGT CACCCGCGTGTCACCCACAGATACACGGCCCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CREBBP_chr16_3720054_3885713	3803222	CTCACGCC others(55): Show CTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGACGGCGGGGAGGGGGG GGGGGGGGGTGGA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02976.hp2 HG03516.hp1 HG01891.hp1 HG02976.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0027 a0001c0033 a0001c0001 a0001c0027 a0001c0033	a0001c0001t0028 a0001c0027t0007 a0001c0033t0004 a0001c0001t0028 a0001c0027t0007 a0001c0033t0004	a0001c0001t0028g0001 a0001c0027t0007g0007 a0001c0033t0004g0234 a0001c0001t0028g0001 a0001c0027t0007g0007 a0001c0033t0004g0234	3	286	0.0105	-62	c.975 others(79): Show c.975+7319_975+7380delTCCACCCCCCCCCCCCCCCTCCCCGCCG TCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGA	CREBBP	ENSG00000005339.15	transcript	ENST00000262367.10	protein_coding	3/30			chr16	TogoVar
CRISP2_chr6_49687359_49718543	49713207	TATGTACT others(55): Show TATGTACTTAGAATGATTTCTCTTTTAAGGTAGGTAAAGAGTTTCAATAG ACTAAACATAGAG	T T	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	410	0.0024	-62	c.-15 others(79): Show c.-151+206_-151+267delCTCTATGTTTAGTCTATTGAAACTCTTT ACCTACCTTAAAAGAGAAATCATTCTAAGTACAT	CRISP2	ENSG00000124490.14	transcript	ENST00000339139.5	protein_coding	1/9			chr6	TogoVar
CRISPLD2_chr16_84814985_84914508	84849245	GCTGCCCG others(55): Show GCTGCCCGTGGCTGCTCCTGGAATTGGCCGCTATTCACCCTCCTCGGCCT CCCTCCCTCCTAC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02109.hp2 HG02723.hp2 HG01891.hp2 HG02109.hp2 HG02723.hp2	a0004 a0007 a0004 a0007	a0004c0012 a0004c0028 a0007c0027 a0004c0012 a0004c0028 a0007c0027	a0004c0012t0016 a0004c0028t0057 a0007c0027t0087 a0004c0012t0016 a0004c0028t0057 a0007c0027t0087	a0004c0012t0016g0009 a0004c0028t0057g0008 a0007c0027t0087g0349 a0004c0012t0016g0009 a0004c0028t0057g0008 a0007c0027t0087g0349	3	380	0.0079	-62	c.360 others(76): Show c.360-124_360-63delCCTGGAATTGGCCGCTATTCACCCTCCTCGG CCTCCCTCCCTCCTACCTGCCCGTGGCTGCT	CRISPLD2	ENSG00000103196.12	transcript	ENST00000262424.10	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CRTC3_chr15_90524923_90650345	90588384	TATTTTTC others(55): Show TATTTTTCACTCATATTACTTGTCCGTGGTGCTGGAATACCTTCTACGTC TCTCCTCTGTGTA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG03453.hp2 HG01243.hp2 HG01884.hp1 HG03453.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0001c0001t0016 a0003c0003t0003 a0001c0001t0003 a0001c0001t0016 a0003c0003t0003	a0001c0001t0003g0255 a0001c0001t0016g0168 a0003c0003t0003g0267 a0001c0001t0003g0255 a0001c0001t0016g0168 a0003c0003t0003g0267	3	276	0.0109	-62	c.232 others(79): Show c.232-5251_232-5190delATTTTTCACTCATATTACTTGTCCGTGG TGCTGGAATACCTTCTACGTCTCTCCTCTGTGTA	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding	2/14			chr15	TogoVar
CSMD1_chr8_2930361_4999914	3102723	AAAGAGCC others(55): Show AAAGAGCCAGCGCCTTTATACAAAGCCTGGAACGGAGTGTTTCCGTTAAA TATTAAAAGCTGT	A A	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0004 a0004	a0004c0086 a0004c0086	a0004c0086t0002 a0004c0086t0002	a0004c0086t0002g0118 a0004c0086t0002g0118	1	126	0.0079	-62	c.694 others(81): Show c.6949+3743_6949+3804delACAGCTTTTAATATTTAACGGAAACA CTCCGTTCCAGGCTTTGTATAAAGGCGCTGGCTCTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	46/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4920892	AAAAGAAA others(55): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAGAGAAAGAAA GAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0010 a0010	a0010c0112 a0010c0112	a0010c0112t0081 a0010c0112t0081	a0010c0112t0081g0090 a0010c0112t0081g0090	1	126	0.0079	-62	c.85+ others(79): Show c.85+73378_85+73439delCTTTCTTTCTTTCTTTCTTTCTCTCTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSN2_chr4_69950256_69970728	69953454	CTTTTAAC others(55): Show CTTTTAACTCCTGCTGCTGCCAGAAATCTTGGGTATTTATTGGTTTGTAG ATGCATCACTCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	448	0.0022	-62	c.21 others(73): Show c.2113_*2174delTGGAGTGATGCATCTACAAACCAATAAATACCCA AGATTTCTGGCAGCAGCAGGAGTTAAAA	CSN2	ENSG00000135222.7	transcript	ENST00000353151.4	protein_coding		1801		chr4	TogoVar
CSNK1A1_chr5_149487982_149556439	149542610	ATATATAT others(55): Show ATATATATATATATATATATATATATATATGTATATATATATATATATAT ATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG03041.hp1 others(2): Show HG02895.hp2 HG02897.hp2 HG03041.hp1 HG03579.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0016 a0001c0001t0004 a0001c0001t0016	a0001c0001t0004g0301 a0001c0001t0016g0321 a0001c0001t0016g0322 others(2): Show a0001c0001t0004g0301 a0001c0001t0016g0321 a0001c0001t0016g0322 a0001c0001t0016g0323 a0001c0001t0016g0324	5	390	0.0128	-62	c.230 others(79): Show c.230+7403_230+7464delCATATATATATATATATATATATATATA TATACATATATATATATATATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CTSS_chr1_150725188_150770778	150743561	GTATGTAT others(55): Show GTATGTATACATAATATATTATATATGTATATTATGTATACATAATATAT TATATATGTATAT	G G	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18961.hp2 NA18954.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0138 a0001c0001t0001g0003 a0001c0001t0001g0138	2	344	0.0058	-62	c.896 others(79): Show c.896+4154_896+4215delATATACATATATAATATATTATGTATAC ATAATATACATATATAATATATTATGTATACATA	CTSS	ENSG00000163131.12	transcript	ENST00000368985.8	protein_coding	7/7			chr1	TogoVar
CTTNBP2_chr7_117705651_117878441	117811829	TAAAATTT others(55): Show TAAAATTTTAATTAAATTAAAATTTTAATGTAAAAATTTTAATTAAATTA AAATTTTAATGTA	T T	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01346.hp1 HG01433.hp1 others(15): Show HG01168.hp2 HG01346.hp1 HG01433.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02630.hp2 HG02895.hp2 HG02922.hp2 HG03041.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03579.hp2 HG03654.hp2 NA18951.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0007t0001	a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0045 others(15): Show a0001c0001t0001g0024 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0058 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0090 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0002g0023 a0001c0001t0003g0122 a0001c0001t0004g0034 a0001c0001t0004g0040 a0001c0001t0004g0054 a0001c0007t0001g0011	18	164	0.1098	-62	c.190 others(77): Show c.190-902_190-841delTACATTAAAATTTTAATTTAATTAAAATTT TTACATTAAAATTTTAATTTAATTAAAATTTT	CTTNBP2	ENSG00000077063.11	transcript	ENST00000160373.8	protein_coding	2/22			chr7	TogoVar
CYP2A7_chr19_40870439_40887231	40880763	CAGGACAG others(55): Show CAGGACAGGTGCAAACTCAGTCAGAGAAACACGAGGGAGAGAGAGAGAGA GAGAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0199 a0006c0010t0001g0199	1	398	0.0025	-62	c.344 others(77): Show c.344-197_344-136delCTCTCTCTCTCTCTCTCTCTCTCTCTCCCT CGTGTTTCTCTGACTGAGTTTGCACCTGTCCT	CYP2A7	ENSG00000198077.11	transcript	ENST00000301146.9	protein_coding	2/8			chr19	TogoVar
CYP2E1_chr10_133522363_133544123	133523732	GAAATGAG others(55): Show GAAATGAGTCGTCAGGTAAATCAGCCCTTGATAAAACAGCAGGAACCTGT TCACCCAAAACCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	414	0.0024	-62	c.-36 others(73): Show c.-3663_-3602delAAATGAGTCGTCAGGTAAATCAGCCCTTGATAAA ACAGCAGGAACCTGTTCACCCAAAACCA	CYP2E1	ENSG00000130649.10	transcript	ENST00000252945.8	protein_coding		3630		chr10	TogoVar
CYP4F8_chr19_15610218_15635639	15623516	TTTAGAGG others(55): Show TTTAGAGGTGATTGCATAGAAAGCTTCCTGGGAAGAACAAACAGGAGGTC GGAAGGAAGCATG	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01168.hp2 HG01255.hp2 others(33): Show HG01081.hp1 HG01168.hp2 HG01255.hp2 HG01358.hp1 HG01891.hp2 HG02004.hp1 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp1 HG03486.hp2 HG03942.hp1 HG04228.hp1 NA18906.hp2 NA19009.hp2 NA19043.hp1 NA19043.hp2 NA19068.hp1 NA19080.hp2 NA20129.hp2 NA20300.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0006c0009 a0001c0001 a0001c0002 a0006c0009	a0001c0001t0001 a0001c0001t0005 a0001c0002t0005 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0005 a0006c0009t0003	a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0005g0016 others(22): Show a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0005g0016 a0001c0001t0005g0025 a0001c0001t0005g0026 a0001c0001t0005g0056 a0001c0001t0005g0057 a0001c0001t0005g0058 a0001c0001t0005g0104 a0001c0001t0005g0114 a0001c0001t0005g0190 a0001c0001t0005g0191 a0001c0001t0005g0192 a0001c0001t0005g0193 a0001c0001t0005g0195 a0001c0001t0005g0196 a0001c0001t0005g0197 a0001c0001t0005g0198 a0001c0001t0005g0199 a0001c0001t0005g0200 a0001c0001t0005g0202 a0001c0001t0005g0203 a0001c0001t0005g0204 a0001c0002t0005g0137 a0006c0009t0003g0194	36	412	0.0874	-62	c.918 others(77): Show c.918+143_919-120delTAGAGGTGATTGCATAGAAAGCTTCCTGGG AAGAACAAACAGGAGGTCGGAAGGAAGCATGT	CYP4F8	ENSG00000186526.13	transcript	ENST00000612078.5	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
DAPL1_chr2_158790317_158820990	158791933	TTCTTTCT others(55): Show TTCTTTCTTTCTCTCTTTCTTTCTTTCTCTCTTTCTTTCTTTCTTTCTTT CTTTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00735.hp1 others(18): Show HG00140.hp2 HG00323.hp1 HG00735.hp1 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01358.hp1 HG02735.hp2 HG03490.hp1 HG03492.hp1 HG03710.hp2 HG03942.hp1 HG04199.hp1 NA18943.hp1 NA18985.hp2 NA18987.hp1 NA18991.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0003c0010 a0001c0001 a0003c0004 a0003c0010	a0001c0001t0001 a0003c0004t0001 a0003c0004t0002 others(1): Show a0001c0001t0001 a0003c0004t0001 a0003c0004t0002 a0003c0010t0002	a0001c0001t0001g0026 a0003c0004t0001g0074 a0003c0004t0002g0009 others(11): Show a0001c0001t0001g0026 a0003c0004t0001g0074 a0003c0004t0002g0009 a0003c0004t0002g0010 a0003c0004t0002g0017 a0003c0004t0002g0025 a0003c0004t0002g0062 a0003c0004t0002g0064 a0003c0004t0002g0065 a0003c0004t0002g0067 a0003c0004t0002g0073 a0003c0004t0002g0076 a0003c0004t0002g0077 a0003c0010t0002g0063	21	360	0.0583	-62	c.-34 others(73): Show c.-3439_-3378delTCTTTCTTTCTCTCTTTCTTTCTTTCTCTCTTTC TTTCTTTCTTTCTTTCTTTCTCTCTCTC	DAPL1	ENSG00000163331.12	transcript	ENST00000309950.8	protein_coding		3383		chr2	TogoVar
DCC_chr18_52335197_53540899	53047250	ATATATAT others(55): Show ATATATATATATATATATATATATATATATATATATATAATTTTATATAT ATATATATAATTT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01884.hp1 HG02280.hp2 others(8): Show HG01192.hp2 HG01884.hp1 HG02280.hp2 HG02622.hp2 HG02647.hp1 HG02809.hp2 HG02895.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0003 a0001c0005 a0002c0001 others(5): Show a0001c0003 a0001c0005 a0002c0001 a0002c0012 a0002c0018 a0003c0006 a0003c0024 a0007c0014	a0001c0003t0003 a0001c0003t0013 a0001c0005t0011 others(6): Show a0001c0003t0003 a0001c0003t0013 a0001c0005t0011 a0002c0001t0006 a0002c0012t0011 a0002c0018t0004 a0003c0006t0009 a0003c0024t0009 a0007c0014t0037	a0001c0003t0003g0073 a0001c0003t0013g0075 a0001c0005t0011g0032 others(8): Show a0001c0003t0003g0073 a0001c0003t0013g0075 a0001c0005t0011g0032 a0001c0005t0011g0045 a0002c0001t0006g0010 a0002c0012t0011g0037 a0002c0018t0004g0071 a0003c0006t0009g0046 a0003c0006t0009g0104 a0003c0024t0009g0002 a0007c0014t0037g0030	11	114	0.0965	-62	c.986 others(81): Show c.986-16042_986-15981delTATATATATATATATATATATATATA ATTTTATATATATATATATAATTTTATATATATATA	DCC	ENSG00000187323.13	transcript	ENST00000442544.7	protein_coding	5/28		INFO_REALIGN_3_PRIME	chr18	TogoVar
DDA1_chr19_17304563_17328298	17315297	CACACGTG others(55): Show CACACGTGTATATATATACACGCTATATATATACACACGTATATATATAC ACGCTATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03486.hp1 HG01884.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0212 a0001c0001t0004g0247 a0001c0001t0004g0212 a0001c0001t0004g0247	2	388	0.0052	-62	c.137 others(77): Show c.137-634_137-573delACGTGTATATATATACACGCTATATATATA CACACGTATATATATACACGCTATATATATAC	DDA1	ENSG00000130311.11	transcript	ENST00000359866.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
DENND1A_chr9_123374658_123935126	123404871	CACCCTTT others(55): Show CACCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGGCACACACT CCACTTCCTGCCT	C C	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02056.hp1 NA18965.hp1 others(1): Show HG02040.hp1 HG02056.hp1 NA18965.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 a0001c0002 a0001c0003 a0001c0004	a0001c0002t0009 a0001c0002t0018 a0001c0003t0009 others(1): Show a0001c0002t0009 a0001c0002t0018 a0001c0003t0009 a0001c0004t0009	a0001c0002t0009g0037 a0001c0002t0018g0028 a0001c0003t0009g0117 others(1): Show a0001c0002t0009g0037 a0001c0002t0018g0028 a0001c0003t0009g0117 a0001c0004t0009g0158	4	162	0.0247	-62	c.154 others(81): Show c.1543-1443_1543-1382delAGGCAGGAAGTGGAGTGTGTGCCTGC TTCCCTTCCCTGTCTTGTCCTGGAAACTCAAAGGGT	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	20/23			chr9	TogoVar
DENND1A_chr9_123374658_123935126	123405111	TTCCTGCC others(55): Show TTCCTGCCCACCCTTTGAGTTTCCAGGACAAGACAGGGAAGGGAAGCAGG CACACACTCCACC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0007 a0001c0008t0007	a0001c0008t0007g0093 a0001c0008t0007g0093	1	162	0.0062	-62	c.154 others(81): Show c.1543-1683_1543-1622delGGTGGAGTGTGTGCCTGCTTCCCTTC CCTGTCTTGTCCTGGAAACTCAAAGGGTGGGCAGGA	DENND1A	ENSG00000119522.18	transcript	ENST00000394215.7	protein_coding	20/23			chr9	TogoVar
DGKB_chr7_14140049_14907751	14212090	TTTTACTC others(55): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTC TCGTGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0147 a0001c0001t0041g0147	1	148	0.0068	-62	c.212 others(83): Show c.2123-34001_2123-33940delTCACAAAACACGAGAGTAAAATCA CAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212238	TTTTACTC others(55): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTC TCATGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0117 a0001c0001t0002g0117	1	148	0.0068	-62	c.212 others(83): Show c.2123-34149_2123-34088delTCACAAAACATGAGAGTAAAATCA CAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKB_chr7_14140049_14907751	14212259	TTTTACTC others(55): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTC TCATGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 NA19002.hp1 HG01167.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0039 a0001c0001t0001 a0001c0001t0039	a0001c0001t0001g0105 a0001c0001t0039g0022 a0001c0001t0001g0105 a0001c0001t0039g0022	2	148	0.0135	-62	c.212 others(83): Show c.2123-34170_2123-34109delTCACAAAACATGAGAGTAAAATCA CAAAACATGAGAGTAAAATCACAAAACATGAGAGTAAA	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DGKG_chr3_186142201_186367234	186302476	ATATATAT others(55): Show ATATATATATATATATATATATATATATATACATATGTGTATATATATAT ATATATACATATG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0027 a0001c0002t0027	a0001c0002t0027g0156 a0001c0002t0027g0156	1	234	0.0043	-62	c.145 others(79): Show c.145-4309_145-4248delCATATGTATATATATATATATATACACA TATGTATATATATATATATATATATATATATATA	DGKG	ENSG00000058866.15	transcript	ENST00000265022.8	protein_coding	3/24			chr3	TogoVar
DGKQ_chr4_953887_978569	961289	AGGGACCA others(55): Show AGGGACCAGGGACGCCCACCCTGGACCTGGCCCTGGGGCGGGAGAGGCCA GCCGGGCTCAGCG	A A	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18961.hp2 NA18995.hp2 NA18946.hp1 NA18961.hp2 NA18995.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0050 a0002c0003t0003g0122 a0002c0003t0003g0050 a0002c0003t0003g0122	3	438	0.0069	-62	c.257 others(78): Show c.2574+116_2575-89delCGCTGAGCCCGGCTGGCCTCTCCCGCCCC AGGGCCAGGTCCAGGGTGGGCGTCCCTGGTCCC	DGKQ	ENSG00000145214.14	transcript	ENST00000273814.8	protein_coding	21/22			chr4	TogoVar
DHRS12_chr13_51762993_51809163	51775803	TCTCCTAC others(55): Show TCTCCTACATGTATTCTCCTACAGTACATGTATTCTCCTACAGTATTCTC CTACAGTATTCTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(126): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00609.hp1 HG00642.hp1 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01123.hp2 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp2 HG02015.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp2 HG02165.hp2 HG02273.hp1 HG02451.hp1 HG02523.hp2 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02738.hp1 HG02895.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03209.hp2 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04228.hp2 NA18612.hp2 NA18939.hp2 NA18944.hp2 NA18948.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18957.hp2 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18982.hp1 NA18983.hp1 NA18986.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19085.hp2 NA19086.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0006 a0007 a0008	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0006c0009 a0007c0006 a0008c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0003 a0003c0003t0001 a0003c0003t0002 a0006c0009t0002 a0007c0006t0004 a0008c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 others(101): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0035 a0001c0001t0001g0069 a0001c0001t0001g0079 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0001g0210 a0001c0001t0001g0219 a0001c0001t0001g0233 a0001c0001t0001g0257 a0001c0001t0001g0302 a0001c0001t0001g0322 a0001c0001t0002g0014 a0001c0001t0002g0020 a0001c0001t0002g0053 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0162 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0214 a0001c0001t0002g0230 a0001c0001t0002g0260 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0269 a0001c0001t0002g0273 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0281 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0287 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0298 a0001c0001t0002g0300 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0323 a0001c0001t0004g0066 a0002c0002t0003g0176 a0003c0003t0001g0032 a0003c0003t0001g0041 a0003c0003t0001g0170 a0003c0003t0001g0171 a0003c0003t0001g0222 a0003c0003t0001g0223 a0003c0003t0002g0201 a0003c0003t0002g0248 a0006c0009t0002g0311 a0007c0006t0004g0062 a0008c0005t0001g0200	129	420	0.3071	-62	c.363 others(79): Show c.363+1195_363+1256delGAGAATACTGTAGGAGAATACTGTAGGA GAATACATGTACTGTAGGAGAATACATGTAGGAG	DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8			chr13	TogoVar

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