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 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
CNBD2_chr20_35963590_36035700	36001573	GGGCGGAG others(33): Show GGGCGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCCA	G G	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	268	0.0037	-40	c.970 others(57): Show c.970+6448_970+6487delCGGGGCGGCTGCCAGGCGGAGGGGCTCC TCACTTCTCAGA	CNBD2	ENSG00000149646.12	transcript	ENST00000373973.7	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
CNBP_chr3_129162827_129188896	129172584	GCAGGCAG others(33): Show GCAGGCAGGCAGGCAGGCAGGCAGACAGGCAGACAGGCAGC	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02280.hp2 HG02559.hp1 others(1): Show HG02258.hp2 HG02280.hp2 HG02559.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0029 a0001c0001t0001 a0001c0001t0004 a0001c0001t0029	a0001c0001t0001g0306 a0001c0001t0004g0025 a0001c0001t0029g0300 a0001c0001t0001g0306 a0001c0001t0004g0025 a0001c0001t0029g0300	4	430	0.0093	-40	c.-14 others(55): Show c.-14-853_-14-814delGCTGCCTGTCTGCCTGTCTGCCTGCCTGCC TGCCTGCCTG	CNBP	ENSG00000169714.17	transcript	ENST00000422453.7	protein_coding	1/4			chr3	TogoVar
CNN2_chr19_1021608_1044065	1029023	TCCCAAAT others(33): Show TCCCAAATAATCCCAGGCAGGTCCAGCTCAGGGGACCCTAA	T T	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0008 a0001c0018t0008	a0001c0018t0008g0193 a0001c0018t0008g0193	1	390	0.0026	-40	c.64- others(55): Show c.64-2040_64-2001delAATCCCAGGCAGGTCCAGCTCAGGGGACCC TAACCCAAAT	CNN2	ENSG00000064666.15	transcript	ENST00000263097.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
CNOT4_chr7_135356795_135515102	135495686	AAAAAAAA others(33): Show AAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02896.hp1 HG02970.hp1 others(1): Show HG02818.hp1 HG02896.hp1 HG02970.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 others(1): Show a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134	4	362	0.0111	-40	c.-93 others(59): Show c.-93+14163_-93+14202delCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTTTTT	CNOT4	ENSG00000080802.21	transcript	ENST00000541284.6	protein_coding	1/11			chr7	TogoVar
CNOT6_chr5_180489379_180583358	180539551	CTTTTTTT others(33): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02486.hp1 HG02572.hp2 others(6): Show HG01891.hp2 HG02486.hp1 HG02572.hp2 HG02622.hp2 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02976.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0021 a0001c0002t0005g0022 a0001c0002t0005g0023 others(6): Show a0001c0002t0005g0021 a0001c0002t0005g0022 a0001c0002t0005g0023 a0001c0002t0005g0024 a0001c0002t0005g0025 a0001c0002t0005g0026 a0001c0002t0005g0027 a0001c0002t0005g0028 a0001c0002t0005g0330	9	334	0.0270	-40	c.112 others(59): Show c.112+10180_112+10219delTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	CNOT6	ENSG00000113300.13	transcript	ENST00000261951.9	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
CNPY1_chr7_155496129_155551559	155534309	ACACACAC others(33): Show ACACACACACATGCACACACACGTGCACAGAGGCACACATG	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0250 a0001c0001t0004g0250	1	426	0.0024	-40	c.99+ others(57): Show c.99+11482_99+11521delCATGTGTGCCTCTGTGCACGTGTGTGTG CATGTGTGTGTG	CNPY1	ENSG00000146910.14	transcript	ENST00000636446.2	protein_coding	2/4			chr7	TogoVar
CNST_chr1_246561456_246673595	246605709	GGTGTCTT others(33): Show GGTGTCTTCCGGCCGGGGTAGGTGTCTTCCGGCCGGGGTGC	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	320	0.0031	-40	c.379 others(59): Show c.379+13807_379+13846delGCGTGTCTTCCGGCCGGGGTAGGTGT CTTCCGGCCGGGGT	CNST	ENSG00000162852.14	transcript	ENST00000366513.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
CNTN1_chr12_40687439_41077415	41056979	AGATATTT others(33): Show AGATATTTATAAATATTATAAATATTTAGATATTTATAAAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02109.hp1 HG02572.hp1 others(4): Show HG01167.hp1 HG02109.hp1 HG02572.hp1 HG02717.hp2 HG02886.hp2 HG03209.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0063 a0001c0001t0001g0095 a0001c0001t0001g0212 others(4): Show a0001c0001t0001g0063 a0001c0001t0001g0095 a0001c0001t0001g0212 a0001c0001t0001g0223 a0001c0001t0001g0230 a0001c0001t0014g0074 a0001c0001t0014g0185	7	230	0.0304	-40	c.298 others(61): Show c.2981-12939_2981-12900delGATATTTATAAATATTATAAATAT TTAGATATTTATAAAT	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN5_chr11_99015949_100363885	99598258	CCTTTTCT others(33): Show CCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01099.hp2 HG01243.hp1 others(9): Show HG00738.hp1 HG01099.hp2 HG01243.hp1 HG02109.hp2 HG02258.hp1 HG02886.hp2 HG02895.hp1 HG02965.hp2 HG06807.hp1 NA18522.hp2 NA19043.hp2 NA19070.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0010	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0006 a0010c0010	a0001c0001t0003 a0002c0002t0001 a0002c0002t0003 others(7): Show a0001c0001t0003 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0008 a0003c0003t0007 a0004c0004t0020 a0006c0006t0013 a0010c0010t0011	a0001c0001t0003g0021 a0001c0001t0003g0022 a0002c0002t0001g0003 others(9): Show a0001c0001t0003g0021 a0001c0001t0003g0022 a0002c0002t0001g0003 a0002c0002t0003g0036 a0002c0002t0003g0037 a0002c0002t0004g0039 a0002c0002t0005g0015 a0002c0002t0008g0019 a0003c0003t0007g0057 a0004c0004t0020g0024 a0006c0006t0013g0025 a0010c0010t0011g0009	12	66	0.1818	-40	c.55+ others(57): Show c.55+42017_55+42056delTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCT	CNTN5	ENSG00000149972.12	transcript	ENST00000524871.6	protein_coding	3/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
CNTN6_chr3_1088024_1409217	1158833	CACACACA others(33): Show CACACACATATATATACATACATATATATACACACATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp1 HG02145.hp1 others(19): Show HG01884.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02486.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02717.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03130.hp2 HG03209.hp1 HG03453.hp1 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA19030.hp2 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0002 a0001c0005 others(9): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0025 a0002c0011 a0002c0014 a0002c0017 a0004c0016 a0006c0027	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(13): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0001c0002t0009 a0001c0005t0001 a0001c0006t0001 a0001c0006t0002 a0001c0006t0004 a0001c0007t0001 a0001c0008t0001 a0001c0025t0001 a0002c0011t0001 a0002c0014t0001 a0002c0017t0001 a0004c0016t0001 a0006c0027t0001	a0001c0001t0001g0190 a0001c0002t0001g0227 a0001c0002t0004g0228 others(19): Show a0001c0001t0001g0190 a0001c0002t0001g0227 a0001c0002t0004g0228 a0001c0002t0009g0205 a0001c0005t0001g0188 a0001c0006t0001g0111 a0001c0006t0001g0162 a0001c0006t0001g0213 a0001c0006t0001g0223 a0001c0006t0002g0178 a0001c0006t0004g0119 a0001c0007t0001g0133 a0001c0007t0001g0134 a0001c0007t0001g0135 a0001c0008t0001g0143 a0001c0025t0001g0192 a0002c0011t0001g0006 a0002c0014t0001g0232 a0002c0017t0001g0179 a0004c0016t0001g0002 a0004c0016t0001g0003 a0006c0027t0001g0191	22	232	0.0948	-40	c.55+ others(57): Show c.55+10772_55+10811delCACACATATATATACATACATATATATA CACACATATATA	CNTN6	ENSG00000134115.13	transcript	ENST00000446702.7	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	147775309	AAATATAT others(33): Show AAATATATATATATTTATATATATTTATAAATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0006 a0001c0019t0006	a0001c0019t0006g0015 a0001c0019t0006g0015	1	40	0.0250	-40	c.209 others(63): Show c.2099-128255_2099-128216delAATATATATATATTTATATATA TTTATAAATATATATATT	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	13/23			chr7	TogoVar
COBL_chr7_51011212_51321809	51207955	GCCTGGCC others(33): Show GCCTGGCCGCCATCCCATCTAGGAAGTGAGGAGAGCCTCTT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01261.hp2 HG01433.hp2 others(3): Show HG00099.hp1 HG01261.hp2 HG01433.hp2 HG02970.hp1 HG03654.hp1 NA20300.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0006	a0002c0003 a0003c0001 a0004c0025 others(1): Show a0002c0003 a0003c0001 a0004c0025 a0006c0062	a0002c0003t0001 a0003c0001t0001 a0004c0025t0002 others(1): Show a0002c0003t0001 a0003c0001t0001 a0004c0025t0002 a0006c0062t0004	a0002c0003t0001g0067 a0003c0001t0001g0009 a0003c0001t0001g0025 others(3): Show a0002c0003t0001g0067 a0003c0001t0001g0009 a0003c0001t0001g0025 a0003c0001t0001g0113 a0004c0025t0002g0015 a0006c0062t0004g0006	6	230	0.0261	-40	c.245 others(59): Show c.245+11746_245+11785delAAGAGGCTCTCCTCACTTCCTAGATG GGATGGCGGCCAGG	COBL	ENSG00000106078.19	transcript	ENST00000265136.12	protein_coding	2/12			chr7	TogoVar
COG1_chr17_73188055_73213507	73192830	CCGCGCCC others(33): Show CCGCGCCCGCGCCCGCCCCCGCCCCCTCGCGCCCGCCCCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02723.hp1 HG02818.hp2 others(6): Show HG02451.hp1 HG02723.hp1 HG02818.hp2 HG02895.hp2 NA18973.hp2 NA19007.hp2 NA19063.hp1 NA19065.hp2 NA19082.hp2	a0002 a0002	a0002c0001 a0002c0006 a0002c0001 a0002c0006	a0002c0001t0001 a0002c0006t0001 a0002c0001t0001 a0002c0006t0001	a0002c0001t0001g0006 a0002c0001t0001g0032 a0002c0001t0001g0044 others(6): Show a0002c0001t0001g0006 a0002c0001t0001g0032 a0002c0001t0001g0044 a0002c0001t0001g0048 a0002c0001t0001g0066 a0002c0006t0001g0031 a0002c0006t0001g0091 a0002c0006t0001g0092 a0002c0006t0001g0095	9	428	0.0210	-40	c.-23 others(49): Show c.-239_-200delCGCGCCCGCGCCCGCCCCCGCCCCCTCGCGCCCGCC CCCT	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		224		chr17	TogoVar
COG3_chr13_45459939_45541701	45485729	ACGCTCCT others(33): Show ACGCTCCTCACTTCCTAGATGTGATGGCGGCTGGGAAGAGG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18522.hp2 HG03139.hp1 NA18522.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0011 a0002c0005t0012 a0002c0005t0011 a0002c0005t0012	a0002c0005t0011g0150 a0002c0005t0012g0148 a0002c0005t0011g0150 a0002c0005t0012g0148	2	342	0.0059	-40	c.844 others(55): Show c.844-745_844-706delTGATGGCGGCTGGGAAGAGGCGCTCCTCAC TTCCTAGATG	COG3	ENSG00000136152.15	transcript	ENST00000349995.10	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr13	TogoVar
COL11A1_chr1_102871473_103113522	103043034	TAAATACA others(33): Show TAAATACATCATATATATGAAACATATATAATGAATACATG	T T	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG01099.hp2 HG01243.hp1 others(24): Show HG01071.hp1 HG01099.hp2 HG01243.hp1 HG01433.hp2 HG01884.hp1 HG01943.hp1 HG01952.hp1 HG02004.hp1 HG02055.hp2 HG02145.hp1 HG02280.hp1 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02630.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03540.hp1 HG03834.hp1 HG04184.hp1 HG04228.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0017	a0001c0002 a0002c0001 a0002c0033 others(2): Show a0001c0002 a0002c0001 a0002c0033 a0008c0018 a0017c0038	a0001c0002t0002 a0001c0002t0003 a0002c0001t0001 others(4): Show a0001c0002t0002 a0001c0002t0003 a0002c0001t0001 a0002c0001t0002 a0002c0033t0013 a0008c0018t0001 a0017c0038t0002	a0001c0002t0002g0155 a0001c0002t0003g0019 a0001c0002t0003g0020 others(24): Show a0001c0002t0002g0155 a0001c0002t0003g0019 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0022 a0001c0002t0003g0037 a0001c0002t0003g0038 a0001c0002t0003g0062 a0001c0002t0003g0063 a0001c0002t0003g0064 a0001c0002t0003g0065 a0001c0002t0003g0066 a0001c0002t0003g0067 a0001c0002t0003g0104 a0002c0001t0001g0100 a0002c0001t0001g0110 a0002c0001t0002g0097 a0002c0001t0002g0098 a0002c0001t0002g0099 a0002c0001t0002g0101 a0002c0001t0002g0109 a0002c0001t0002g0183 a0002c0001t0002g0184 a0002c0033t0013g0111 a0008c0018t0001g0023 a0008c0018t0001g0082 a0017c0038t0002g0108	27	184	0.1467	-40	c.652 others(59): Show c.652-11830_652-11791delCATGTATTCATTATATATGTTTCATA TATATGATGTATTT	COL11A1	ENSG00000060718.22	transcript	ENST00000370096.9	protein_coding	4/66			chr1	TogoVar
COL13A1_chr10_69796906_69964144	69936088	GGAAGGAG others(33): Show GGAAGGAGGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0003 a0002c0024t0003	a0002c0024t0003g0264 a0002c0024t0003g0264	1	324	0.0031	-40	c.177 others(57): Show c.1771-661_1771-622delGGGAAGGGAGGAAGGAAGGAAGGAAGGA AGGAAAGAAGGA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	32/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL18A1_chr21_45400165_45518720	45437820	ACTCACAC others(33): Show ACTCACACTCAGACAAGCACTCTCCTGCACACACTCACACT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0027 a0027	a0027c0070 a0027c0070	a0027c0070t0001 a0027c0070t0001	a0027c0070t0001g0012 a0027c0070t0001g0012	1	292	0.0034	-40	c.107 others(59): Show c.107-30420_107-30381delTCACACTCAGACAAGCACTCTCCTGC ACACACTCACACTC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL18A1_chr21_45400165_45518720	45437966	ACACACAC others(33): Show ACACACACACTCACACACTCAGACACACAGGCACTCTCCTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00597.hp1 others(26): Show HG00099.hp2 HG00438.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01361.hp2 HG01943.hp1 HG01993.hp2 HG02004.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02602.hp2 HG02818.hp1 HG03017.hp2 HG03579.hp2 NA18961.hp2 NA18966.hp1 NA18969.hp2 NA19010.hp1 NA19064.hp2 homoSapiens_chm13v2.hp1	a0001 a0006 a0007 others(2): Show a0001 a0006 a0007 a0009 a0016	a0001c0003 a0001c0004 a0001c0005 others(8): Show a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0025 a0001c0053 a0001c0082 a0006c0026 a0007c0034 a0009c0016 a0016c0042	a0001c0003t0001 a0001c0003t0003 a0001c0003t0008 others(11): Show a0001c0003t0001 a0001c0003t0003 a0001c0003t0008 a0001c0004t0001 a0001c0005t0002 a0001c0007t0002 a0001c0025t0002 a0001c0053t0001 a0001c0082t0008 a0006c0026t0001 a0006c0026t0003 a0007c0034t0001 a0009c0016t0001 a0016c0042t0001	a0001c0003t0001g0043 a0001c0003t0001g0081 a0001c0003t0001g0085 others(26): Show a0001c0003t0001g0043 a0001c0003t0001g0081 a0001c0003t0001g0085 a0001c0003t0001g0086 a0001c0003t0001g0101 a0001c0003t0001g0145 a0001c0003t0001g0153 a0001c0003t0001g0181 a0001c0003t0001g0182 a0001c0003t0001g0221 a0001c0003t0001g0254 a0001c0003t0001g0261 a0001c0003t0001g0289 a0001c0003t0003g0264 a0001c0003t0008g0166 a0001c0004t0001g0255 a0001c0005t0002g0158 a0001c0007t0002g0161 a0001c0007t0002g0185 a0001c0007t0002g0208 a0001c0007t0002g0220 a0001c0025t0002g0159 a0001c0053t0001g0244 a0001c0082t0008g0053 a0006c0026t0001g0083 a0006c0026t0003g0219 a0007c0034t0001g0141 a0009c0016t0001g0084 a0016c0042t0001g0118	29	292	0.0993	-40	c.107 others(59): Show c.107-30266_107-30227delTCACACACTCAGACACACAGGCACTC TCCTGCACACACAC	COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL20A1_chr20_63288186_63339806	63303859	CCAGGTGT others(33): Show CCAGGTGTGCAGGTGTGGGTTCCACCCTCCTCTTCTCCCTG	C C	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02723.hp2 HG02055.hp1 HG02723.hp2	a0001 a0003 a0001 a0003	a0001c0014 a0003c0043 a0001c0014 a0003c0043	a0001c0014t0003 a0003c0043t0007 a0001c0014t0003 a0003c0043t0007	a0001c0014t0003g0136 a0003c0043t0007g0137 a0001c0014t0003g0136 a0003c0043t0007g0137	2	290	0.0069	-40	c.194 others(57): Show c.194-1535_194-1496delACCCTCCTCTTCTCCCTGCAGGTGTGCA GGTGTGGGTTCC	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	3/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL21A1_chr6_56051590_56252580	56121472	ATATATAT others(33): Show ATATATATATACATATACATATATATGTATATTCATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00735.hp2 HG01071.hp1 others(15): Show HG00099.hp1 HG00735.hp2 HG01071.hp1 HG01192.hp1 HG01257.hp2 HG01346.hp2 HG01496.hp2 HG01515.hp2 HG01943.hp2 HG02572.hp1 HG02572.hp2 NA18522.hp1 NA18939.hp2 NA18956.hp2 NA18971.hp2 NA18981.hp2 NA19005.hp2 NA19043.hp2	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0008	a0001c0001 a0001c0002 a0001c0014 others(5): Show a0001c0001 a0001c0002 a0001c0014 a0001c0024 a0003c0005 a0003c0006 a0006c0011 a0008c0012	a0001c0001t0014 a0001c0002t0002 a0001c0014t0010 others(6): Show a0001c0001t0014 a0001c0002t0002 a0001c0014t0010 a0001c0024t0022 a0003c0005t0007 a0003c0005t0014 a0003c0006t0007 a0006c0011t0004 a0008c0012t0004	a0001c0001t0014g0087 a0001c0002t0002g0197 a0001c0014t0010g0010 others(15): Show a0001c0001t0014g0087 a0001c0002t0002g0197 a0001c0014t0010g0010 a0001c0024t0022g0148 a0003c0005t0007g0119 a0003c0005t0007g0122 a0003c0005t0007g0200 a0003c0005t0007g0202 a0003c0005t0007g0251 a0003c0005t0014g0035 a0003c0006t0007g0199 a0003c0006t0007g0201 a0003c0006t0007g0204 a0003c0006t0007g0205 a0003c0006t0007g0206 a0006c0011t0004g0090 a0006c0011t0004g0091 a0008c0012t0004g0030	18	264	0.0682	-40	c.175 others(59): Show c.1758+2550_1758+2589delCACATATGAATATACATATATATGTA TATGTATATATATA	COL21A1	ENSG00000124749.18	transcript	ENST00000244728.10	protein_coding	16/29			chr6	TogoVar
COL22A1_chr8_138583235_138919041	138660845	CACACACA others(33): Show CACACACATACACAGACACACAAACACACAGACACACACAT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02809.hp2 HG02559.hp1 HG02809.hp2	a0001 a0001	a0001c0010 a0001c0016 a0001c0010 a0001c0016	a0001c0010t0001 a0001c0016t0001 a0001c0010t0001 a0001c0016t0001	a0001c0010t0001g0128 a0001c0016t0001g0132 a0001c0010t0001g0128 a0001c0016t0001g0132	2	158	0.0127	-40	c.324 others(57): Show c.3241-405_3241-366delATGTGTGTGTCTGTGTGTTTGTGTGTCT GTGTATGTGTGT	COL22A1	ENSG00000169436.18	transcript	ENST00000303045.11	protein_coding	43/64			chr8	TogoVar
COL23A1_chr5_178232618_178595393	178269336	CATCCATC others(33): Show CATCCATCCATCCACCCACCCACCCATCCACCCACCCATCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00738.hp1 HG00738.hp2 others(62): Show HG00280.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp2 HG01934.hp1 HG01952.hp1 HG01978.hp2 HG02083.hp1 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02735.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp1 HG03017.hp2 HG03130.hp1 HG03225.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp1 HG03654.hp1 HG03704.hp1 HG03831.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18975.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19005.hp1 NA19010.hp1 NA19012.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0004 a0002c0002 others(7): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0002c0009 a0002c0022 a0003c0005 a0003c0007 a0003c0023 a0004c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(19): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0004t0002 a0001c0004t0005 a0002c0002t0001 a0002c0002t0011 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0009t0006 a0002c0022t0009 a0003c0005t0002 a0003c0005t0003 a0003c0007t0001 a0003c0023t0010 a0004c0006t0003 a0004c0006t0004	a0001c0001t0002g0028 a0001c0001t0002g0056 a0001c0001t0002g0083 others(62): Show a0001c0001t0002g0028 a0001c0001t0002g0056 a0001c0001t0002g0083 a0001c0001t0002g0153 a0001c0001t0002g0165 a0001c0001t0002g0189 a0001c0001t0003g0006 a0001c0001t0004g0035 a0001c0001t0004g0041 a0001c0001t0004g0063 a0001c0001t0004g0069 a0001c0001t0004g0098 a0001c0001t0004g0111 a0001c0001t0004g0164 a0001c0001t0004g0174 a0001c0001t0004g0185 a0001c0001t0004g0204 a0001c0001t0004g0218 a0001c0001t0005g0009 a0001c0001t0005g0095 a0001c0001t0005g0107 a0001c0001t0007g0008 a0001c0001t0007g0118 a0001c0001t0014g0224 a0001c0004t0002g0120 a0001c0004t0005g0105 a0001c0004t0005g0106 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0031 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0064 a0002c0002t0001g0075 a0002c0002t0001g0096 a0002c0002t0001g0101 a0002c0002t0001g0104 a0002c0002t0001g0177 a0002c0002t0001g0180 a0002c0002t0011g0038 a0002c0003t0001g0036 a0002c0003t0001g0134 a0002c0003t0001g0152 a0002c0003t0002g0016 a0002c0003t0002g0034 a0002c0003t0002g0211 a0002c0003t0003g0088 a0002c0003t0004g0099 a0002c0003t0004g0100 a0002c0009t0006g0232 a0002c0022t0009g0233 a0003c0005t0002g0005 a0003c0005t0002g0061 a0003c0005t0002g0163 a0003c0005t0002g0168 a0003c0005t0002g0171 a0003c0005t0003g0145 a0003c0007t0001g0012 a0003c0007t0001g0102 a0003c0007t0001g0103 a0003c0007t0001g0137 a0003c0023t0010g0236 a0004c0006t0003g0167 a0004c0006t0004g0135 a0004c0006t0004g0136	65	236	0.2754	-40	c.469 others(55): Show c.469-620_469-581delAGATGGGTGGGTGGATGGGTGGGTGGGTGG ATGGATGGAT	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	6/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178349497	CCCATCCC others(33): Show CCCATCCCCCATGCCCCACACCTGGCCCTCCCTAGGCAGGG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00408.hp1 others(166): Show HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00738.hp1 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01167.hp1 HG01167.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG02015.hp1 HG02015.hp2 HG02055.hp1 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18990.hp1 NA18990.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0011 a0012 a0013	a0001c0001 a0001c0004 a0002c0002 others(16): Show a0001c0001 a0001c0004 a0002c0002 a0002c0003 a0002c0009 a0002c0014 a0003c0005 a0003c0007 a0003c0023 a0004c0006 a0004c0011 a0005c0008 a0005c0015 a0007c0019 a0008c0018 a0009c0016 a0011c0013 a0012c0012 a0013c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(38): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0014 a0001c0004t0001 a0001c0004t0002 a0001c0004t0004 a0001c0004t0005 a0002c0002t0001 a0002c0002t0002 a0002c0002t0011 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0005 a0002c0003t0006 a0002c0003t0008 a0002c0003t0013 a0002c0009t0006 a0002c0009t0008 a0002c0014t0003 a0003c0005t0002 a0003c0005t0003 a0003c0005t0005 a0003c0007t0001 a0003c0023t0010 a0004c0006t0003 a0004c0006t0004 a0004c0011t0001 a0005c0008t0002 a0005c0015t0002 a0007c0019t0005 a0008c0018t0003 a0009c0016t0002 a0011c0013t0005 a0012c0012t0002 a0013c0010t0002	a0001c0001t0001g0002 a0001c0001t0001g0076 a0001c0001t0001g0199 others(166): Show a0001c0001t0001g0002 a0001c0001t0001g0076 a0001c0001t0001g0199 a0001c0001t0002g0028 a0001c0001t0002g0048 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0079 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0153 a0001c0001t0002g0165 a0001c0001t0003g0006 a0001c0001t0003g0067 a0001c0001t0003g0073 a0001c0001t0003g0116 a0001c0001t0003g0119 a0001c0001t0003g0122 a0001c0001t0003g0142 a0001c0001t0003g0159 a0001c0001t0003g0166 a0001c0001t0003g0170 a0001c0001t0003g0182 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0004g0011 a0001c0001t0004g0021 a0001c0001t0004g0022 a0001c0001t0004g0029 a0001c0001t0004g0035 a0001c0001t0004g0037 a0001c0001t0004g0041 a0001c0001t0004g0043 a0001c0001t0004g0063 a0001c0001t0004g0065 a0001c0001t0004g0069 a0001c0001t0004g0071 a0001c0001t0004g0081 a0001c0001t0004g0084 a0001c0001t0004g0087 a0001c0001t0004g0098 a0001c0001t0004g0109 a0001c0001t0004g0111 a0001c0001t0004g0164 a0001c0001t0004g0184 a0001c0001t0004g0185 a0001c0001t0004g0188 a0001c0001t0004g0193 a0001c0001t0004g0197 a0001c0001t0004g0200 a0001c0001t0004g0204 a0001c0001t0004g0218 a0001c0001t0005g0078 a0001c0001t0005g0113 a0001c0001t0005g0133 a0001c0001t0005g0144 a0001c0001t0005g0147 a0001c0001t0005g0161 a0001c0001t0005g0207 a0001c0001t0005g0222 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0006g0230 a0001c0001t0014g0224 a0001c0004t0001g0007 a0001c0004t0001g0070 a0001c0004t0001g0094 a0001c0004t0001g0178 a0001c0004t0001g0179 a0001c0004t0002g0120 a0001c0004t0004g0023 a0001c0004t0004g0110 a0001c0004t0004g0223 a0001c0004t0005g0105 a0002c0002t0001g0001 a0002c0002t0001g0019 a0002c0002t0001g0025 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0047 a0002c0002t0001g0051 a0002c0002t0001g0057 a0002c0002t0001g0064 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0086 a0002c0002t0001g0096 a0002c0002t0001g0101 a0002c0002t0001g0141 a0002c0002t0001g0176 a0002c0002t0001g0180 a0002c0002t0001g0181 a0002c0002t0001g0186 a0002c0002t0001g0191 a0002c0002t0001g0198 a0002c0002t0001g0219 a0002c0002t0002g0149 a0002c0002t0011g0038 a0002c0003t0001g0004 a0002c0003t0001g0036 a0002c0003t0001g0129 a0002c0003t0002g0016 a0002c0003t0002g0034 a0002c0003t0002g0097 a0002c0003t0002g0138 a0002c0003t0002g0206 a0002c0003t0002g0209 a0002c0003t0002g0211 a0002c0003t0003g0126 a0002c0003t0003g0157 a0002c0003t0003g0158 a0002c0003t0003g0169 a0002c0003t0003g0173 a0002c0003t0003g0195 a0002c0003t0004g0192 a0002c0003t0004g0205 a0002c0003t0004g0221 a0002c0003t0005g0131 a0002c0003t0005g0146 a0002c0003t0005g0151 a0002c0003t0006g0229 a0002c0003t0008g0231 a0002c0003t0013g0114 a0002c0009t0006g0232 a0002c0009t0008g0235 a0002c0014t0003g0124 a0003c0005t0002g0005 a0003c0005t0002g0061 a0003c0005t0002g0163 a0003c0005t0002g0168 a0003c0005t0002g0171 a0003c0005t0003g0125 a0003c0005t0003g0127 a0003c0005t0003g0145 a0003c0005t0003g0220 a0003c0005t0005g0208 a0003c0007t0001g0013 a0003c0007t0001g0030 a0003c0007t0001g0044 a0003c0007t0001g0102 a0003c0007t0001g0103 a0003c0007t0001g0154 a0003c0023t0010g0236 a0004c0006t0003g0062 a0004c0006t0003g0130 a0004c0006t0003g0143 a0004c0006t0003g0167 a0004c0006t0003g0172 a0004c0006t0004g0135 a0004c0006t0004g0136 a0004c0011t0001g0093 a0005c0008t0002g0003 a0005c0008t0002g0024 a0005c0008t0002g0053 a0005c0008t0002g0090 a0005c0008t0002g0091 a0005c0008t0002g0155 a0005c0008t0002g0187 a0005c0015t0002g0017 a0007c0019t0005g0160 a0008c0018t0003g0215 a0009c0016t0002g0108 a0011c0013t0005g0132 a0012c0012t0002g0162 a0013c0010t0002g0117	169	236	0.7161	-40	c.362 others(59): Show c.362-42618_362-42579delCCCTGCCTAGGGAGGGCCAGGTGTGG GGCATGGGGGATGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178518633	AGAGACGC others(33): Show AGAGACGCTCCTCACTTCCTAGATGGGATGGCGGCCGGGCG	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01243.hp1 HG01243.hp2 others(21): Show HG01106.hp2 HG01243.hp1 HG01243.hp2 HG02145.hp1 HG02257.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03098.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03654.hp2 HG04199.hp1 NA18522.hp1 NA18906.hp1 NA20129.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0007 a0011	a0001c0001 a0002c0002 a0002c0003 others(3): Show a0001c0001 a0002c0002 a0002c0003 a0003c0005 a0007c0019 a0011c0013	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0002c0002t0001 a0002c0002t0009 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0005 a0003c0005t0002 a0003c0005t0003 a0007c0019t0005 a0011c0013t0005	a0001c0001t0002g0083 a0001c0001t0003g0067 a0001c0001t0003g0073 others(21): Show a0001c0001t0002g0083 a0001c0001t0003g0067 a0001c0001t0003g0073 a0001c0001t0003g0166 a0001c0001t0003g0182 a0001c0001t0004g0065 a0001c0001t0006g0226 a0001c0001t0006g0227 a0001c0001t0007g0118 a0001c0001t0014g0224 a0002c0002t0001g0019 a0002c0002t0001g0101 a0002c0002t0009g0225 a0002c0003t0001g0036 a0002c0003t0001g0152 a0002c0003t0002g0140 a0002c0003t0003g0173 a0002c0003t0005g0066 a0002c0003t0005g0131 a0003c0005t0002g0168 a0003c0005t0002g0171 a0003c0005t0003g0156 a0007c0019t0005g0160 a0011c0013t0005g0132	24	236	0.1017	-40	c.361 others(59): Show c.361+42009_361+42048delCGCCCGGCCGCCATCCCATCTAGGAA GTGAGGAGCGTCTC	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178547610	CCCCCCAC others(33): Show CCCCCCACACACACCCACCCACACCCCCCCACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03130.hp2 HG03471.hp1 HG02895.hp2 HG03130.hp2 HG03471.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0003 a0001c0001t0005 a0004c0006t0003 a0001c0001t0003 a0001c0001t0005 a0004c0006t0003	a0001c0001t0003g0182 a0001c0001t0005g0113 a0004c0006t0003g0128 a0001c0001t0003g0182 a0001c0001t0005g0113 a0004c0006t0003g0128	3	236	0.0127	-40	c.361 others(59): Show c.361+13032_361+13071delTGTGTGTGTGTGGGGGGGTGTGGGTG GGTGTGTGTGGGGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL26A1_chr7_101357875_101564024	101489659	TTCTTCCT others(33): Show TTCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTTCTG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0097 a0002c0004t0001g0097	1	174	0.0058	-40	c.385 others(59): Show c.385+41877_385+41916delCCTTCCTTCCTTCCTTCCTTTCTTTC TTTCTTTCTGTCTT	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL4A4_chr2_226997714_227169205	227041759	GAAGGAAG others(33): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0215 a0002c0002t0005g0215	1	284	0.0035	-40	c.350 others(57): Show c.3505+349_3505+388delTTTCTTTCTTTCCCTTCCTTCCTTCCTT CCTTCCTTCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041771	GAAGGAAG others(33): Show GAAGGAAGGAAGGAAGGGAAAGAAAGAAAGAAAGGAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0079 a0002c0002t0002g0079	1	284	0.0035	-40	c.350 others(57): Show c.3505+337_3505+376delTTTCTTCCTTTCTTTCTTTCTTTCCCTT CCTTCCTTCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041775	GAAGGAAG others(33): Show GAAGGAAGGAAGGGAAAGAAAGAAAGAAAGGAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0051 a0002c0002t0002g0051	1	284	0.0035	-40	c.350 others(57): Show c.3505+333_3505+372delTTTCTTTCTTCCTTTCTTTCTTTCTTTC CCTTCCTTCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL5A1_chr9_134636803_134849843	134636860	CCACTGGC others(33): Show CCACTGGCCAGAGTCCCCTCTCACTGGCCAGGGTCCCCTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0114 a0001c0008t0001g0114	1	272	0.0037	-40	c.-53 others(51): Show c.-5327_-5288delCACTGGCCAGAGTCCCCTCTCACTGGCCAGGGTC CCCTCT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4942		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134669212	TTTCCCTT others(33): Show TTTCCCTTCCCTTCCCTTCCCTTTCCTTCCCTTCCCTTCCC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG03139.hp1 HG03516.hp1 others(3): Show HG00438.hp2 HG03139.hp1 HG03516.hp1 NA18906.hp1 NA18950.hp1 NA19085.hp1	a0001 a0005 a0012 a0001 a0005 a0012	a0001c0001 a0001c0003 a0001c0057 others(2): Show a0001c0001 a0001c0003 a0001c0057 a0005c0062 a0012c0043	a0001c0001t0002 a0001c0003t0004 a0001c0003t0014 others(3): Show a0001c0001t0002 a0001c0003t0004 a0001c0003t0014 a0001c0057t0002 a0005c0062t0011 a0012c0043t0043	a0001c0001t0002g0023 a0001c0003t0004g0038 a0001c0003t0014g0247 others(3): Show a0001c0001t0002g0023 a0001c0003t0004g0038 a0001c0003t0014g0247 a0001c0057t0002g0024 a0005c0062t0011g0026 a0012c0043t0043g0037	6	272	0.0221	-40	c.110 others(59): Show c.110-21677_110-21638delTCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134792865	GCGCGCGT others(33): Show GCGCGCGTTTGTGCACACGTGTGTGTGCGCGCGTGTGTGCA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02647.hp2 others(1): Show HG02451.hp1 HG02486.hp2 HG02647.hp2 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0003 a0001c0005t0006 a0001c0005t0014 others(1): Show a0001c0005t0003 a0001c0005t0006 a0001c0005t0014 a0001c0007t0023	a0001c0005t0003g0265 a0001c0005t0006g0040 a0001c0005t0014g0258 others(1): Show a0001c0005t0003g0265 a0001c0005t0006g0040 a0001c0005t0014g0258 a0001c0007t0023g0232	4	272	0.0147	-40	c.270 others(59): Show c.2701-2209_2701-2170delTTGTGCACACGTGTGTGTGCGCGCGT GTGTGCACGCGCGT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	32/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134826719	GTGGTGTG others(33): Show GTGGTGTGTGGGTGTGTACATGGTGTTCGGGTGTGTGTGGC	G G	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0025 a0001c0003t0025	a0001c0003t0025g0043 a0001c0003t0025g0218 a0001c0003t0025g0043 a0001c0003t0025g0218	2	272	0.0074	-40	c.506 others(57): Show c.5067+833_5067+872delCATGGTGTTCGGGTGTGTGTGGCTGGTG TGTGGGTGTGTA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	63/65		INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A1_chr21_45976770_46010048	46002718	TGGGGCCA others(33): Show TGGGGCCACCCGGGCAGTCCCAGATCTGCGTAGGTGCGCGC	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03453.hp2 HG02559.hp1 HG03453.hp2	a0001 a0001	a0001c0012 a0001c0022 a0001c0012 a0001c0022	a0001c0012t0005 a0001c0022t0007 a0001c0012t0005 a0001c0022t0007	a0001c0012t0005g0073 a0001c0022t0007g0046 a0001c0012t0005g0073 a0001c0022t0007g0046	2	128	0.0156	-40	c.243 others(55): Show c.2434+15_2434+54delACCCGGGCAGTCCCAGATCTGCGTAGGTGC GCGCGGGGCC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	33/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A1_chr21_45976770_46010048	46002755	GCGCGGGG others(33): Show GCGCGGGGCCGCCCGGGCAGTCCCAGATCTGCGTAGGTGCA	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01981.hp2 HG03239.hp2 HG01361.hp1 HG01981.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0001t0003 a0001c0003t0003	a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0003t0003g0034 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0003t0003g0034	3	128	0.0234	-40	c.243 others(56): Show c.2434+99_2434+138delGGGCAGTCCCAGATCTGCGTAGGTGCACG CGGGGCCGCCC	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	33/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46125041	GAGGGCAA others(33): Show GAGGGCAAGGTCAGAGAGCAAGCTTGGTTGGGGAAGGTCAC	G G	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0203 a0003c0007t0007g0203	1	372	0.0027	-40	c.177 others(57): Show c.1770+132_1770+171delCAGAGAGCAAGCTTGGTTGGGGAAGGTC ACAGGGCAAGGT	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46125041	GAGGGCAA others(33): Show GAGGGCAAGGTCAGAGAGCAAGCTTGGTTGGGGAAGGTCAC	G G	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0003 a0003c0008t0003	a0003c0008t0003g0199 a0003c0008t0003g0199	1	364	0.0028	-40	c.177 others(57): Show c.1770+132_1770+171delCAGAGAGCAAGCTTGGTTGGGGAAGGTC ACAGGGCAAGGT	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding	23/27		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46137848	46135765	TCCCTCCC others(33): Show TCCCTCCCAGCCTCCCCTCCCCAGCGTTCCCTCCCAGCCTC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	364	0.0028	-40	c.32 others(51): Show c.3214_*3253delCCCTCCCAGCCTCCCCTCCCCAGCGTTCCCTCCC AGCCTC	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		2918		chr21	TogoVar
COL6A3_chr2_237319018_237419164	237343514	CAAAAAAA others(33): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02647.hp2 HG02809.hp1 others(2): Show HG02056.hp2 HG02647.hp2 HG02809.hp1 HG03516.hp2 NA19030.hp1	a0005 a0009 a0013 others(1): Show a0005 a0009 a0013 a0020	a0005c0101 a0009c0124 a0009c0126 others(2): Show a0005c0101 a0009c0124 a0009c0126 a0013c0097 a0020c0127	a0005c0101t0003 a0009c0124t0003 a0009c0126t0004 others(2): Show a0005c0101t0003 a0009c0124t0003 a0009c0126t0004 a0013c0097t0002 a0020c0127t0004	a0005c0101t0003g0238 a0009c0124t0003g0113 a0009c0126t0004g0179 others(2): Show a0005c0101t0003g0238 a0009c0124t0003g0113 a0009c0126t0004g0179 a0013c0097t0002g0107 a0020c0127t0004g0211	5	322	0.0155	-40	c.766 others(57): Show c.7668+796_7668+835delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43			chr2	TogoVar
COL6A3_chr2_237319018_237419164	237343537	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01346.hp2 HG01496.hp2 others(21): Show HG00642.hp2 HG01346.hp2 HG01496.hp2 HG01978.hp1 HG01981.hp2 HG02071.hp2 HG02083.hp2 HG02129.hp2 HG02622.hp1 HG02735.hp1 HG03239.hp2 HG03453.hp2 HG03516.hp1 HG04228.hp1 NA18522.hp1 NA18941.hp1 NA18981.hp1 NA18986.hp2 NA18989.hp2 NA19004.hp2 NA19007.hp2 NA19087.hp1 NA19088.hp2 NA20905.hp2	a0003 a0009 a0017 others(3): Show a0003 a0009 a0017 a0024 a0027 a0059	a0003c0005 a0003c0015 a0003c0027 others(9): Show a0003c0005 a0003c0015 a0003c0027 a0003c0075 a0003c0093 a0003c0118 a0003c0122 a0009c0041 a0017c0024 a0024c0038 a0027c0023 a0059c0055	a0003c0005t0001 a0003c0005t0002 a0003c0005t0003 others(12): Show a0003c0005t0001 a0003c0005t0002 a0003c0005t0003 a0003c0015t0001 a0003c0015t0003 a0003c0027t0003 a0003c0075t0001 a0003c0093t0001 a0003c0118t0002 a0003c0122t0002 a0009c0041t0002 a0017c0024t0001 a0024c0038t0002 a0027c0023t0001 a0059c0055t0004	a0003c0005t0001g0018 a0003c0005t0001g0019 a0003c0005t0002g0077 others(21): Show a0003c0005t0001g0018 a0003c0005t0001g0019 a0003c0005t0002g0077 a0003c0005t0002g0080 a0003c0005t0003g0059 a0003c0005t0003g0060 a0003c0005t0003g0156 a0003c0015t0001g0272 a0003c0015t0003g0084 a0003c0015t0003g0199 a0003c0015t0003g0209 a0003c0027t0003g0119 a0003c0075t0001g0192 a0003c0093t0001g0250 a0003c0118t0002g0061 a0003c0122t0002g0078 a0009c0041t0002g0236 a0009c0041t0002g0303 a0017c0024t0001g0055 a0024c0038t0002g0110 a0024c0038t0002g0111 a0027c0023t0001g0124 a0027c0023t0001g0125 a0059c0055t0004g0162	24	322	0.0745	-40	c.766 others(57): Show c.7668+773_7668+812delGTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43			chr2	TogoVar
COLEC11_chr2_3590112_3649644	3615978	TGGAGGGG others(33): Show TGGAGGGGCTCCTCACTTCTCAGACGGGGCGGCTGCCCGGC	T T	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0356 a0003c0009t0001g0356	1	378	0.0027	-40	c.202 others(57): Show c.202+2612_202+2651delTTCTCAGACGGGGCGGCTGCCCGGCGGA GGGGCTCCTCAC	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr2	TogoVar
COMMD10_chr5_116080025_116298287	116129566	GTATATAT others(33): Show GTATATATATACTATATACTAATGTAATATACATTAGTATA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG03225.hp1 HG01891.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0322 a0001c0001t0001g0323	2	350	0.0057	-40	c.400 others(57): Show c.400-4495_400-4456delTATACTATATACTAATGTAATATACATT AGTATATATATA	COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
COP1_chr1_175939831_176212286	176057980	GGCCGCCC others(33): Show GGCCGCCCCGTCTGAGAGGTGAGGAGCCCCTCCGCCCGGCA	G G	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG00642.hp2 others(79): Show HG00597.hp2 HG00609.hp2 HG00642.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp2 HG01891.hp2 HG02004.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02135.hp1 HG02145.hp1 HG02572.hp1 HG02615.hp1 HG02723.hp2 HG02738.hp1 HG02886.hp1 HG02922.hp2 HG03471.hp1 HG03492.hp1 HG03492.hp2 HG03669.hp2 HG03688.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18946.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18959.hp1 NA18961.hp1 NA18965.hp1 NA18967.hp2 NA18970.hp1 NA18974.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp1 NA18986.hp1 NA18989.hp2 NA18990.hp2 NA18993.hp1 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19054.hp1 NA19056.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19066.hp1 NA19068.hp1 NA19074.hp2 NA19079.hp2 NA19080.hp1 NA19084.hp1 NA19085.hp2 NA19090.hp1 NA20805.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0004c0005t0001	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(79): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0261 a0001c0001t0007g0002 a0001c0001t0009g0059 a0001c0001t0010g0098 a0004c0005t0001g0031	82	300	0.2733	-40	c.127 others(61): Show c.1278-11696_1278-11657delTGCCGGGCGGAGGGGCTCCTCACC TCTCAGACGGGGCGGC	COP1	ENSG00000143207.21	transcript	ENST00000367669.8	protein_coding	11/19			chr1	TogoVar
COPG2_chr7_130501238_130673748	130590910	GTCTGAGA others(33): Show GTCTGAGAAGTGAGAAGCCCCTCTGCCCGGCAGCCACACCA	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0114 a0003c0008t0001g0114	1	326	0.0031	-40	c.737 others(59): Show c.737+20003_737+20042delTGGTGTGGCTGCCGGGCAGAGGGGCT TCTCACTTCTCAGA	COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	9/23			chr7	TogoVar
COQ8A_chr1_226935294_226992544	226944710	AGAGAGAG others(33): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG04115.hp2 HG02976.hp1 HG04115.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0012 a0001c0001 a0002c0012	a0001c0001t0001 a0002c0012t0003 a0001c0001t0001 a0002c0012t0003	a0001c0001t0001g0189 a0002c0012t0003g0190 a0001c0001t0001g0189 a0002c0012t0003g0190	2	412	0.0049	-40	c.-10 others(57): Show c.-10+4325_-10+4364delAGAGAGAGAGAGAGAGAGAGAGAGAGTG AGAGAGAGAGAG	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8A_chr1_226935294_226992544	226944724	AGAGAGAG others(33): Show AGAGAGAGAGAGAGAGAGAGAGAGAGTGAGAGAGAGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02622.hp1 HG02818.hp1 others(9): Show HG02257.hp1 HG02622.hp1 HG02818.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03471.hp1 HG03516.hp2 HG03579.hp2 HG03834.hp2 NA18906.hp2 NA19043.hp2	a0001 a0003 a0008 a0001 a0003 a0008	a0001c0001 a0001c0016 a0001c0020 others(2): Show a0001c0001 a0001c0016 a0001c0020 a0003c0005 a0008c0014	a0001c0001t0002 a0001c0016t0001 a0001c0020t0003 others(2): Show a0001c0001t0002 a0001c0016t0001 a0001c0020t0003 a0003c0005t0005 a0008c0014t0001	a0001c0001t0002g0027 a0001c0001t0002g0362 a0001c0001t0002g0363 others(8): Show a0001c0001t0002g0027 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0002g0365 a0001c0001t0002g0366 a0001c0001t0002g0368 a0001c0016t0001g0361 a0001c0020t0003g0357 a0003c0005t0005g0370 a0008c0014t0001g0367	12	412	0.0291	-40	c.-10 others(57): Show c.-10+4339_-10+4378delAGAGAGAGAGAGTGAGAGAGAGAGAGTG AGAGAGAGAGAG	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8A_chr1_226935294_226992544	226976177	GGGCTGCG others(33): Show GGGCTGCGGGACTGCGGGGCTGTGGGACTGCGATGTTGCCT	G G	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	412	0.0024	-40	c.656 others(57): Show c.656-1262_656-1223delACTGCGGGGCTGTGGGACTGCGATGTTG CCTGGCTGCGGG	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
COX17_chr3_119664532_119682406	119674064	CGTCTGGG others(33): Show CGTCTGGGATGTGAGGAGCGCCTCTGCCCAGCTGCCGCCCT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	420	0.0024	-40	c.4+ others(55): Show c.4+1041_*4+1080delAGGGCGGCAGCTGGGCAGAGGCGCTCCTCA CATCCCAGAC	COX17	ENSG00000138495.7	transcript	ENST00000261070.7	protein_coding	2/2			chr3	TogoVar
COX4I1_chr16_85794695_85812068	85808223	CGGCTGCT others(33): Show CGGCTGCTGGGCGGAGATGCTCCTCACTTCCCAGACGGGGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(200): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18946.hp1 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp2 NA18956.hp1 NA18957.hp1 NA18961.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18992.hp2 NA18995.hp2 NA18999.hp1 NA19001.hp2 NA19002.hp2 NA19004.hp1 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19009.hp2 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19063.hp2 NA19065.hp2 NA19067.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19085.hp2 NA19086.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp1 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0005 others(1): Show a0001c0001 a0001c0004 a0001c0005 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0005t0001 a0002c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(44): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0004t0001g0023 a0001c0004t0001g0040 a0001c0005t0001g0001 a0002c0006t0001g0090	203	432	0.4699	-40	c.13 others(51): Show c.1350_*1389delGGCTGCTGGGCGGAGATGCTCCTCACTTCCCAGA CGGGGT	COX4I1	ENSG00000131143.10	transcript	ENST00000253452.8	protein_coding		1156		chr16	TogoVar
CPA6_chr8_67417038_67751360	67648259	TTTTTTTT others(33): Show TTTTTTTTTTTTTTTTTTTTGCTAGACCTTCTCTTTTCTTA	T T	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0058	1	144	0.0069	-40	c.117 others(59): Show c.117-24048_117-24009delTAAGAAAAGAGAAGGTCTAGCAAAAA AAAAAAAAAAAAAA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar

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