Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
BLTP3B_chr12_100032072_100147874	100135281	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18987.hp2 NA19000.hp1 HG02559.hp1 NA18987.hp2 NA19000.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0031 a0003c0002t0001g0034 a0003c0002t0001g0037 a0003c0002t0001g0031 a0003c0002t0001g0034 a0003c0002t0001g0037	3	188	0.0160	12	c.44+ others(27): Show c.44+7310_44+7311insAAAAAAAAAAAA	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100140717	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	188	0.0053	12	c.44+ others(27): Show c.44+1874_44+1875insATATATATATAT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100140729	A A	AAAAAAAA others(5): Show AAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0047 a0001c0004t0001g0047	1	188	0.0053	12	c.44+ others(27): Show c.44+1862_44+1863insATATATTTTTTT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLTP3B_chr12_100032072_100147874	100140729	A A	AAAAAATA others(5): Show AAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02622.hp1 HG02615.hp1 HG02622.hp1	a0010 a0017 a0010 a0017	a0010c0013 a0017c0030 a0010c0013 a0017c0030	a0010c0013t0001 a0017c0030t0001 a0010c0013t0001 a0017c0030t0001	a0010c0013t0001g0003 a0017c0030t0001g0002 a0010c0013t0001g0003 a0017c0030t0001g0002	2	188	0.0106	12	c.44+ others(27): Show c.44+1862_44+1863insATATATATTTTT	BLTP3B	ENSG00000111647.13	transcript	ENST00000279907.12	protein_coding	1/20			chr12	TogoVar
BLVRB_chr19_40442768_40470745	40448597	C C	CAACAACA others(5): Show CAACAACAACAAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18986.hp2 HG02559.hp2 NA18986.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0001 a0001c0002t0001 a0001c0003t0001	a0001c0002t0001g0177 a0001c0003t0001g0126 a0001c0002t0001g0177 a0001c0003t0001g0126	2	362	0.0055	12	c.464 others(27): Show c.464-552_464-551insATTGTTGTTGTT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	4/4			chr19	TogoVar
BLVRB_chr19_40442768_40470745	40448608	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18979.hp2 NA18963.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0001g0209 a0001c0001t0001g0213	2	362	0.0055	12	c.464 others(27): Show c.464-574_464-563dupATATATATATAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	4/4			chr19	TogoVar
BLVRB_chr19_40442768_40470745	40450842	G G	GTATCTAT others(5): Show GTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	362	0.0028	12	c.463 others(27): Show c.463+510_463+521dupGATAGATAGATA	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	4/4			chr19	TogoVar
BLVRB_chr19_40442768_40470745	40457657	T T	TATAAATA others(5): Show TATAAATAAATAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	362	0.0028	12	c.334 others(27): Show c.334+486_334+497dupTTATTTATTTAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	3/4			chr19	TogoVar
BLVRB_chr19_40442768_40470745	40460245	A A	AATATATA others(5): Show AATATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG02738.hp2 NA18959.hp1 others(3): Show HG00323.hp2 HG02738.hp2 NA18959.hp1 NA18968.hp1 NA18986.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0163 a0001c0001t0002g0184 a0001c0002t0001g0129 others(3): Show a0001c0001t0001g0163 a0001c0001t0002g0184 a0001c0002t0001g0129 a0001c0002t0001g0145 a0001c0002t0001g0177 a0001c0002t0001g0178	6	362	0.0166	12	c.80- others(27): Show c.80-1701_80-1700insATATATATATAT	BLVRB	ENSG00000090013.11	transcript	ENST00000263368.9	protein_coding	1/4			chr19	TogoVar
BLZF1_chr1_169363195_169393305	169375393	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01515.hp1 HG01517.hp1 others(5): Show HG01109.hp1 HG01515.hp1 HG01517.hp1 HG01891.hp1 HG02559.hp2 HG02895.hp2 HG02897.hp1 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0135 a0001c0001t0002g0012 a0001c0001t0002g0089 a0001c0001t0001g0135 a0001c0001t0002g0012 a0001c0001t0002g0089	8	366	0.0219	12	c.29- others(27): Show c.29-1120_29-1109dupATATATATATAT	BLZF1	ENSG00000117475.14	transcript	ENST00000367808.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
BMAL1_chr11_13272790_13392266	13288394	T T	TCTTTTTT others(5): Show TCTTTTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA19088.hp2 HG00621.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0067 a0001c0001t0001g0055 a0001c0001t0001g0067	2	314	0.0064	12	c.-26 others(33): Show c.-263+10471_-263+10472insCTTTTTTCTTTC	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19			chr11	TogoVar
BMAL1_chr11_13272790_13392266	13290559	A A	ATGTTATT others(5): Show ATGTTATTATTAT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG04199.hp2 HG02723.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0193 a0001c0001t0002g0007 a0001c0001t0001g0193 a0001c0001t0002g0007	2	314	0.0064	12	c.-26 others(33): Show c.-263+12637_-263+12638insGTTATTATTATT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13314229	C C	CCACACAC others(5): Show CCACACACACACA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00673.hp1 HG01257.hp2 others(14): Show HG00558.hp1 HG00673.hp1 HG01257.hp2 HG02129.hp2 HG02155.hp1 HG02809.hp2 HG02818.hp2 HG03831.hp2 NA18522.hp1 NA18939.hp2 NA18968.hp1 NA18971.hp2 NA18979.hp2 NA19004.hp1 NA19004.hp2 NA19043.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0026 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0041 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0082 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0162 a0001c0001t0001g0234 a0001c0001t0001g0235	17	314	0.0541	12	c.-19 others(31): Show c.-190+4202_-190+4213dupACACACACACAC	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13325657	T T	TTGTGTGT others(5): Show TTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01175.hp1 HG02895.hp1 others(6): Show HG01099.hp1 HG01175.hp1 HG02895.hp1 HG02897.hp2 NA18953.hp1 NA18969.hp1 NA19000.hp2 NA19082.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0099 others(6): Show a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0099 a0001c0001t0001g0151 a0001c0001t0001g0187 a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0218 a0001c0001t0001g0240	9	314	0.0287	12	c.-18 others(29): Show c.-189-729_-189-718dupTGTGTGTGTGTG	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13339430	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18939.hp1 NA18981.hp2 HG02027.hp1 NA18939.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0225 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0225	3	314	0.0096	12	c.-13 others(33): Show c.-134-10499_-134-10488dupCACACACACACA	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	3/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13363127	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	314	0.0032	12	c.460 others(29): Show c.460-2344_460-2333dupATATATATATAT	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL1_chr11_13272790_13392266	13365282	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	314	0.0032	12	c.460 others(27): Show c.460-190_460-179dupCACACACACACA	BMAL1	ENSG00000133794.20	transcript	ENST00000403290.6	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
BMAL2_chr12_27327836_27430286	27420019	G G	GCACACAC others(5): Show GCACACACACACA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02896.hp2 NA19002.hp1 HG00738.hp1 HG02896.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0001 a0001c0001t0017	a0001c0001t0001g0261 a0001c0001t0017g0155 a0001c0001t0017g0212 a0001c0001t0001g0261 a0001c0001t0017g0155 a0001c0001t0017g0212	3	310	0.0097	12	c.177 others(29): Show c.1775-358_1775-347dupCACACACACACA	BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMAL2_chr12_27327836_27430286	27420019	G G	GCGCGCGC others(5): Show GCGCGCGCGCACA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03239.hp1 HG03831.hp2 others(2): Show HG02280.hp2 HG03239.hp1 HG03831.hp2 HG03834.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0029 a0001c0001t0009 a0001c0001t0029	a0001c0001t0009g0231 a0001c0001t0009g0232 a0001c0001t0009g0234 others(2): Show a0001c0001t0009g0231 a0001c0001t0009g0232 a0001c0001t0009g0234 a0001c0001t0009g0236 a0001c0001t0029g0152	5	310	0.0161	12	c.177 others(29): Show c.1775-376_1775-375insGCGCGCGCACAC	BMAL2	ENSG00000029153.15	transcript	ENST00000266503.10	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
BMERB1_chr16_15429588_15593259	15444123	G G	GTTTTTTT others(5): Show GTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02257.hp1 HG02257.hp2 others(11): Show HG01496.hp1 HG02257.hp1 HG02257.hp2 HG02559.hp1 HG02895.hp2 HG02897.hp1 HG03195.hp2 HG03239.hp1 HG03516.hp1 HG03704.hp2 HG03831.hp1 NA18522.hp2 NA18964.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0004t0010	a0001c0001t0001g0031 a0001c0001t0001g0117 a0001c0001t0001g0122 others(11): Show a0001c0001t0001g0031 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0004g0185 a0001c0001t0005g0011 a0001c0001t0005g0078 a0001c0001t0005g0119 a0001c0001t0005g0121 a0001c0002t0001g0013 a0001c0002t0001g0100 a0001c0002t0003g0054 a0001c0004t0010g0116 a0001c0004t0010g0118 a0001c0004t0010g0120	14	291	0.0481	12	c.106 others(29): Show c.106+9380_106+9391dupTTTTTTTTTTTT	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMERB1_chr16_15429588_15593259	15452323	G G	GGAGGGAG others(5): Show GGAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(209): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp1 HG04184.hp2 NA18747.hp1 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19240.hp1 NA20129.hp1 NA20752.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0005 others(5): Show a0001c0001 a0001c0002 a0001c0005 a0001c0008 a0002c0003 a0003c0007 a0004c0006 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(27): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0002t0001 a0001c0002t0003 a0001c0002t0011 a0001c0002t0017 a0001c0002t0021 a0001c0005t0001 a0001c0008t0003 a0002c0003t0001 a0002c0003t0002 a0002c0003t0007 a0003c0007t0001 a0004c0006t0001 a0005c0009t0004	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 others(209): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0031 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0060 a0001c0001t0001g0067 a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0202 a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0279 a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0053 a0001c0001t0002g0063 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0096 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0130 a0001c0001t0002g0142 a0001c0001t0002g0168 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0186 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0194 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0209 a0001c0001t0002g0226 a0001c0001t0002g0230 a0001c0001t0002g0262 a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0010 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0043 a0001c0001t0003g0098 a0001c0001t0003g0101 a0001c0001t0003g0141 a0001c0001t0003g0165 a0001c0001t0003g0173 a0001c0001t0003g0193 a0001c0001t0003g0203 a0001c0001t0003g0248 a0001c0001t0003g0268 a0001c0001t0004g0148 a0001c0001t0004g0185 a0001c0001t0004g0195 a0001c0001t0004g0196 a0001c0001t0004g0205 a0001c0001t0004g0207 a0001c0001t0004g0208 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0222 a0001c0001t0004g0271 a0001c0001t0006g0004 a0001c0001t0007g0077 a0001c0001t0007g0084 a0001c0001t0007g0181 a0001c0001t0007g0182 a0001c0001t0007g0191 a0001c0001t0007g0201 a0001c0001t0008g0099 a0001c0001t0008g0166 a0001c0001t0008g0192 a0001c0001t0008g0270 a0001c0001t0008g0272 a0001c0001t0008g0280 a0001c0001t0011g0006 a0001c0001t0011g0062 a0001c0001t0011g0134 a0001c0001t0011g0187 a0001c0001t0012g0188 a0001c0001t0012g0211 a0001c0001t0012g0212 a0001c0001t0013g0264 a0001c0001t0013g0265 a0001c0001t0014g0204 a0001c0001t0014g0206 a0001c0001t0015g0009 a0001c0001t0016g0040 a0001c0001t0018g0109 a0001c0001t0020g0176 a0001c0001t0022g0034 a0001c0001t0023g0277 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0042 a0001c0002t0001g0047 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0071 a0001c0002t0001g0090 a0001c0002t0001g0092 a0001c0002t0001g0100 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0108 a0001c0002t0001g0133 a0001c0002t0001g0138 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0149 a0001c0002t0001g0152 a0001c0002t0001g0156 a0001c0002t0001g0157 a0001c0002t0001g0159 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0171 a0001c0002t0001g0175 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0210 a0001c0002t0001g0225 a0001c0002t0001g0234 a0001c0002t0001g0236 a0001c0002t0001g0238 a0001c0002t0001g0246 a0001c0002t0001g0247 a0001c0002t0001g0252 a0001c0002t0001g0273 a0001c0002t0003g0054 a0001c0002t0003g0094 a0001c0002t0003g0151 a0001c0002t0003g0153 a0001c0002t0011g0091 a0001c0002t0017g0164 a0001c0002t0021g0155 a0001c0005t0001g0081 a0001c0005t0001g0082 a0001c0008t0003g0003 a0002c0003t0001g0083 a0002c0003t0002g0080 a0002c0003t0007g0113 a0003c0007t0001g0229 a0004c0006t0001g0154 a0005c0009t0004g0269	212	291	0.7285	12	c.106 others(31): Show c.106+17568_106+17579dupGGAGGGAGAGAG	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMERB1_chr16_15429588_15593259	15517747	T T	TGTGGGTG others(5): Show TGTGGGTGTGCGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02572.hp2 HG02717.hp2 others(3): Show HG02145.hp1 HG02572.hp2 HG02717.hp2 HG03041.hp2 HG03098.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0005g0005	6	291	0.0206	12	c.230 others(29): Show c.230+2319_230+2320insGTGGGTGTGCGG	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	2/5			chr16	TogoVar
BMERB1_chr16_15429588_15593259	15519074	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG03710.hp2 NA18969.hp1 NA20300.hp1 others(1): Show HG03710.hp2 NA18969.hp1 NA20300.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001	a0001c0001t0001g0257 a0001c0001t0003g0254 a0001c0001t0005g0289 others(1): Show a0001c0001t0001g0257 a0001c0001t0003g0254 a0001c0001t0005g0289 a0001c0002t0001g0159	4	291	0.0138	12	c.230 others(29): Show c.230+3669_230+3680dupACACACACACAC	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMERB1_chr16_15429588_15593259	15529015	G G	GTGTTTGT others(5): Show GTGTTTGTTTGTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA20129.hp2 HG02886.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0001 a0001c0001t0005 a0001c0002t0001	a0001c0001t0005g0005 a0001c0002t0001g0030 a0001c0001t0005g0005 a0001c0002t0001g0030	2	291	0.0069	12	c.230 others(31): Show c.230+13606_230+13617dupTTTGTTTGTTTG	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMERB1_chr16_15429588_15593259	15591594	A A	AACACACA others(5): Show AACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG02129.hp1 HG02735.hp1 others(3): Show HG00642.hp2 HG02129.hp1 HG02735.hp1 NA18963.hp1 NA19079.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0135 a0001c0001t0001g0137 others(3): Show a0001c0001t0001g0041 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0170 a0001c0001t0001g0259	6	291	0.0206	12	c.47 others(23): Show c.4765_*4766insACACACACACAC	BMERB1	ENSG00000166780.11	transcript	ENST00000300006.9	protein_coding		3336		chr16	TogoVar
BMF_chr15_40082890_40113879	40083334	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 HG04199.hp1 NA20752.hp1 HG02602.hp1 HG04199.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0299 a0001c0001t0002g0377 a0001c0001t0007g0066 a0001c0001t0002g0299 a0001c0001t0002g0377 a0001c0001t0007g0066	3	414	0.0073	12	c.84 others(23): Show c.8452_*8453insACACACACACAC	BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding		4555		chr15	TogoVar
BMF_chr15_40082890_40113879	40103574	A A	AAGCGCCC others(5): Show AAGCGCCCGGCTG	intron_variant intron_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	414	0.0024	12	c.453 others(27): Show c.453+594_453+605dupCAGCCGGGCGCT	BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding	4/4			chr15	TogoVar
BMF_chr15_40082890_40113879	40106517	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01175.hp2 HG01361.hp1 others(8): Show HG01070.hp1 HG01175.hp2 HG01361.hp1 HG01884.hp1 HG02293.hp2 HG02602.hp1 NA18984.hp1 NA19075.hp2 NA19083.hp1 NA19083.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0023 a0001c0001t0035	a0001c0001t0001g0178 a0001c0001t0001g0253 a0001c0001t0001g0256 others(8): Show a0001c0001t0001g0178 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0296 a0001c0001t0002g0255 a0001c0001t0002g0377 a0001c0001t0004g0254 a0001c0001t0010g0152 a0001c0001t0010g0204 a0001c0001t0023g0340 a0001c0001t0035g0121	11	414	0.0266	12	c.-5- others(25): Show c.-5-438_-5-427dupGTGTGTGTGTGT	BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding	2/4			chr15	TogoVar
BMF_chr15_40082890_40113879	40107533	A A	AGTGTGTG others(5): Show AGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0113 a0001c0001t0018g0113	1	414	0.0024	12	c.-6+ others(25): Show c.-6+714_-6+725dupACACACACACAC	BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding	2/4			chr15	TogoVar
BMF_chr15_40082890_40113879	40108219	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03704.hp2 NA18957.hp2 others(1): Show HG02258.hp1 HG03704.hp2 NA18957.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0033 a0001c0001t0003g0032 a0001c0001t0003g0034 others(1): Show a0001c0001t0002g0033 a0001c0001t0003g0032 a0001c0001t0003g0034 a0001c0001t0003g0035	4	414	0.0097	12	c.-6+ others(23): Show c.-6+28_-6+39dupGTGTGTGTGTGT	BMF	ENSG00000104081.14	transcript	ENST00000354670.9	protein_coding	2/4			chr15	TogoVar
BMP1_chr8_22160372_22206482	22165882	C C	CGTGCGTG others(5): Show CGTGCGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	418	0.0024	12	c.148 others(27): Show c.148+332_148+333insCGTGTGTGTGTG	BMP1	ENSG00000168487.20	transcript	ENST00000306349.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22206482	22165882	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00673.hp2 HG00738.hp2 others(37): Show HG00639.hp1 HG00673.hp2 HG00738.hp2 HG01081.hp2 HG01934.hp2 HG02015.hp1 HG02080.hp1 HG02132.hp2 HG02155.hp1 HG02257.hp1 HG02300.hp1 HG02572.hp2 HG02647.hp1 HG02683.hp1 HG03041.hp2 HG03195.hp1 HG03491.hp1 HG03579.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp1 NA18951.hp1 NA18956.hp1 NA18956.hp2 NA18968.hp1 NA18971.hp2 NA18981.hp1 NA18981.hp2 NA18984.hp1 NA18989.hp2 NA19007.hp2 NA19011.hp1 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19080.hp1 NA19080.hp2 NA20752.hp2	a0001 a0006 a0012 a0001 a0006 a0012	a0001c0001 a0001c0002 a0006c0010 others(1): Show a0001c0001 a0001c0002 a0006c0010 a0012c0009	a0001c0001t0001 a0001c0002t0001 a0006c0010t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0006c0010t0001 a0012c0009t0001	a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 others(37): Show a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0002t0001g0092 a0001c0002t0001g0101 a0001c0002t0001g0105 a0001c0002t0001g0112 a0001c0002t0001g0123 a0001c0002t0001g0129 a0006c0010t0001g0118 a0012c0009t0001g0122	40	418	0.0957	12	c.148 others(27): Show c.148+362_148+373dupGTGTGTGTGTGT	BMP1	ENSG00000168487.20	transcript	ENST00000306349.13	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22206482	22183591	A A	AATTATTA others(5): Show AATTATTATTATT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0013 a0013	a0013c0006 a0013c0006	a0013c0006t0001 a0013c0006t0001	a0013c0006t0001g0040 a0013c0006t0001g0040	1	418	0.0024	12	c.107 others(31): Show c.1077+3130_1077+3141dupATTATTATTATT	BMP1	ENSG00000168487.20	transcript	ENST00000306349.13	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22206482	22189433	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp2 HG02895.hp1 others(4): Show HG02615.hp2 HG02647.hp2 HG02895.hp1 HG02897.hp1 HG04204.hp2 HG06807.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0001 a0001c0002t0003	a0001c0001t0001g0150 a0001c0001t0001g0291 a0001c0002t0001g0185 others(4): Show a0001c0001t0001g0150 a0001c0001t0001g0291 a0001c0002t0001g0185 a0001c0002t0001g0344 a0001c0002t0001g0345 a0001c0002t0001g0346 a0001c0002t0003g0299	7	418	0.0168	12	c.107 others(31): Show c.1078-2598_1078-2587dupCACACACACACA	BMP1	ENSG00000168487.20	transcript	ENST00000306349.13	protein_coding	8/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22217326	22165882	C C	CGTGCGTG others(5): Show CGTGCGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0008 a0001c0007t0001g0008	1	408	0.0025	12	c.148 others(27): Show c.148+332_148+333insCGTGTGTGTGTG	BMP1	ENSG00000168487.20	transcript	ENST00000306385.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22217326	22165882	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00673.hp2 HG00738.hp2 others(28): Show HG00639.hp1 HG00673.hp2 HG00738.hp2 HG01081.hp2 HG01934.hp2 HG02015.hp1 HG02080.hp1 HG02132.hp2 HG02155.hp1 HG02257.hp1 HG02300.hp1 HG02572.hp2 HG02647.hp1 HG02683.hp1 HG03041.hp2 HG03195.hp1 HG03491.hp1 HG03579.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp1 NA18951.hp1 NA18968.hp1 NA18971.hp2 NA18984.hp1 NA19007.hp2 NA19011.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA20752.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0002c0004 a0002c0009 a0008c0021	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0005t0002 a0002c0004t0001 a0002c0009t0001 a0008c0021t0001	a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 others(28): Show a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0002t0001g0090 a0001c0002t0001g0094 a0001c0002t0001g0108 a0001c0003t0001g0098 a0001c0003t0001g0109 a0001c0003t0001g0114 a0001c0005t0001g0091 a0001c0005t0002g0101 a0002c0004t0001g0106 a0002c0009t0001g0103 a0008c0021t0001g0104	31	408	0.0760	12	c.148 others(27): Show c.148+362_148+373dupGTGTGTGTGTGT	BMP1	ENSG00000168487.20	transcript	ENST00000306385.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22217326	22183591	A A	AATTATTA others(5): Show AATTATTATTATT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0001 a0016c0018t0001	a0016c0018t0001g0034 a0016c0018t0001g0034	1	408	0.0025	12	c.107 others(31): Show c.1077+3130_1077+3141dupATTATTATTATT	BMP1	ENSG00000168487.20	transcript	ENST00000306385.10	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22217326	22189433	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02647.hp2 HG02895.hp1 others(4): Show HG02615.hp2 HG02647.hp2 HG02895.hp1 HG02897.hp1 HG04204.hp2 HG06807.hp2 NA18998.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0010 a0001c0001 a0001c0002 a0002c0010	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0002c0010t0001	a0001c0001t0001g0135 a0001c0001t0001g0281 a0001c0002t0001g0171 others(4): Show a0001c0001t0001g0135 a0001c0001t0001g0281 a0001c0002t0001g0171 a0001c0002t0001g0291 a0001c0002t0002g0340 a0001c0002t0002g0341 a0002c0010t0001g0342	7	408	0.0172	12	c.107 others(31): Show c.1078-2598_1078-2587dupCACACACACACA	BMP1	ENSG00000168487.20	transcript	ENST00000306385.10	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22217326	22210466	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp2 HG00621.hp1 others(28): Show HG00558.hp1 HG00597.hp2 HG00621.hp1 HG00741.hp1 HG01884.hp1 HG02071.hp2 HG02080.hp2 HG02486.hp1 HG02559.hp1 HG02630.hp1 HG02647.hp2 HG02886.hp1 HG03139.hp1 HG03688.hp2 NA18522.hp2 NA18939.hp2 NA18946.hp1 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18959.hp2 NA18963.hp1 NA18975.hp1 NA18975.hp2 NA18983.hp2 NA18984.hp2 NA18997.hp1 NA19012.hp2 NA19064.hp2 NA19074.hp2 NA19076.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0001c0003 a0001c0012 others(4): Show a0001c0001 a0001c0003 a0001c0012 a0002c0004 a0002c0010 a0002c0031 a0014c0026	a0001c0001t0001 a0001c0003t0001 a0001c0012t0001 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0012t0001 a0002c0004t0001 a0002c0004t0009 a0002c0010t0001 a0002c0031t0001 a0014c0026t0001	a0001c0001t0001g0379 a0001c0003t0001g0069 a0001c0003t0001g0145 others(28): Show a0001c0001t0001g0379 a0001c0003t0001g0069 a0001c0003t0001g0145 a0001c0003t0001g0267 a0001c0003t0001g0279 a0001c0012t0001g0365 a0002c0004t0001g0021 a0002c0004t0001g0024 a0002c0004t0001g0048 a0002c0004t0001g0049 a0002c0004t0001g0065 a0002c0004t0001g0067 a0002c0004t0001g0198 a0002c0004t0001g0229 a0002c0004t0001g0230 a0002c0004t0001g0233 a0002c0004t0001g0247 a0002c0004t0001g0257 a0002c0004t0001g0299 a0002c0004t0001g0309 a0002c0004t0001g0316 a0002c0004t0001g0320 a0002c0004t0001g0321 a0002c0004t0001g0350 a0002c0004t0009g0259 a0002c0010t0001g0050 a0002c0010t0001g0301 a0002c0010t0001g0342 a0002c0010t0001g0399 a0002c0031t0001g0213 a0014c0026t0001g0215	31	408	0.0760	12	c.282 others(29): Show c.2826+772_2826+773insACACACACACAC	BMP1	ENSG00000168487.20	transcript	ENST00000306385.10	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22217326	22210468	T T	TCACACAC others(5): Show TCACACACACACA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	408	0.0025	12	c.282 others(29): Show c.2826+781_2826+782insCACACACACACA	BMP1	ENSG00000168487.20	transcript	ENST00000306385.10	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22217326	22210468	T T	TCTCACAC others(5): Show TCTCACACACACA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG01081.hp1 others(18): Show HG00323.hp1 HG00639.hp2 HG01081.hp1 HG01123.hp1 HG01928.hp1 HG01943.hp1 HG01993.hp1 HG02148.hp1 HG02148.hp2 HG04115.hp2 NA18940.hp2 NA18942.hp1 NA18944.hp2 NA18959.hp1 NA18964.hp2 NA18974.hp2 NA18998.hp1 NA19002.hp1 NA19054.hp1 NA19056.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0036 others(1): Show a0001c0001 a0001c0002 a0001c0036 a0002c0015	a0001c0001t0001 a0001c0002t0001 a0001c0036t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0036t0001 a0002c0015t0001	a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0054 others(18): Show a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0054 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0146 a0001c0001t0001g0158 a0001c0001t0001g0160 a0001c0001t0001g0178 a0001c0001t0001g0238 a0001c0001t0001g0268 a0001c0001t0001g0277 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0336 a0001c0001t0001g0354 a0001c0001t0001g0395 a0001c0002t0001g0183 a0001c0036t0001g0120 a0002c0015t0001g0027	21	408	0.0515	12	c.282 others(29): Show c.2826+774_2826+775insTCACACACACAC	BMP1	ENSG00000168487.20	transcript	ENST00000306385.10	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP1_chr8_22160372_22217326	22210468	T T	TCTCTCAC others(5): Show TCTCTCACACACA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01258.hp1 HG01884.hp2 others(1): Show HG01169.hp2 HG01258.hp1 HG01884.hp2 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0200 a0001c0001t0001g0286 a0001c0001t0002g0144 others(1): Show a0001c0001t0001g0200 a0001c0001t0001g0286 a0001c0001t0002g0144 a0001c0001t0002g0250	4	408	0.0098	12	c.282 others(29): Show c.2826+774_2826+775insTCTCACACACAC	BMP1	ENSG00000168487.20	transcript	ENST00000306385.10	protein_coding	19/19		INFO_REALIGN_3_PRIME	chr8	TogoVar
BMP2K_chr4_78771350_78921365	78772054	G G	GACACACA others(5): Show GACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	204	0.0049	12	c.-44 others(23): Show c.-4490_-4489insACACACACACAC	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding		4295		chr4	TogoVar
BMP2K_chr4_78771350_78921365	78786405	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0005 a0005c0004t0005	a0005c0004t0005g0028 a0005c0004t0005g0028	1	204	0.0049	12	c.178 others(29): Show c.178+9720_178+9731dupGTGTGTGTGTGT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP2K_chr4_78771350_78921365	78829777	T T	TTTCTCTT others(5): Show TTTCTCTTTTCTC	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0081 a0001c0001t0001g0081	1	204	0.0049	12	c.297 others(29): Show c.297+3626_297+3627insCTTTTCTCTTCT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP2K_chr4_78771350_78921365	78829782	T T	TTTCTCTT others(5): Show TTTCTCTTTTCTC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	204	0.0049	12	c.297 others(29): Show c.297+3631_297+3632insCTTTTCTCTTCT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP2K_chr4_78771350_78921365	78829783	T T	TTCTTTTC others(5): Show TTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19240.hp1 HG02486.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0055 a0001c0001t0003g0056	2	204	0.0098	12	c.297 others(29): Show c.297+3636_297+3637insTTTCTCTTTTCT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP2K_chr4_78771350_78921365	78829787	T T	TTTCTCTT others(5): Show TTTCTCTTTTCTC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01952.hp1 HG02698.hp1 others(1): Show HG01358.hp1 HG01952.hp1 HG02698.hp1 HG03927.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0003 a0001c0001t0018 a0004c0003t0001 a0001c0001t0003 a0001c0001t0018 a0004c0003t0001	a0001c0001t0003g0002 a0001c0001t0003g0018 a0001c0001t0018g0010 others(1): Show a0001c0001t0003g0002 a0001c0001t0003g0018 a0001c0001t0018g0010 a0004c0003t0001g0019	4	204	0.0196	12	c.297 others(29): Show c.297+3639_297+3640insTTCTCTTCTCTT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP2K_chr4_78771350_78921365	78872303	C C	CTTTTTTT others(5): Show CTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0008 a0008	a0008c0014 a0008c0014	a0008c0014t0024 a0008c0014t0024	a0008c0014t0024g0110 a0008c0014t0024g0110	1	204	0.0049	12	c.160 others(29): Show c.1609-296_1609-285dupTTTTTTTTTTTT	BMP2K	ENSG00000138756.19	transcript	ENST00000502613.3	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr4	TogoVar
BMP2_chr20_6762686_6785246	6769612	G G	GGTGTGTG others(5): Show GGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00597.hp2 others(16): Show HG00280.hp2 HG00438.hp2 HG00597.hp2 HG01928.hp2 HG02080.hp1 HG02135.hp1 HG02280.hp2 HG02809.hp1 NA18948.hp1 NA18950.hp1 NA18955.hp2 NA18964.hp2 NA18992.hp2 NA19002.hp1 NA19077.hp2 NA19083.hp2 NA19088.hp2 NA19090.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0012 a0001c0001 a0005c0012	a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0012 a0005c0012t0001	a0001c0001t0001g0007 a0001c0001t0001g0124 a0001c0001t0001g0125 others(4): Show a0001c0001t0001g0007 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0004g0052 a0001c0001t0004g0126 a0001c0001t0012g0007 a0005c0012t0001g0007	19	464	0.0410	12	c.-7- others(25): Show c.-7-483_-7-472dupGTGTGTGTGTGT	BMP2	ENSG00000125845.7	transcript	ENST00000378827.5	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar

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